Apchg 2019

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13th Asia Pacific Conference

on Human Genetics
Advancing Translational Medicine
and Collaborations in Genomics
November 7-9, 2019 | Makati Shangri-La Manila, Philippines
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13th Asia Pacific Conference on Human Genetics
About the Cover
The world has witnessed unprecedented

breakthroughs in the science of genomics. These
advances have brought to the limelight the new and
emerging field of genomic medicine. The successful
delivery of genomics for biomedical innovations,
more precise medical treatment, better
stratification of patient populations and more
efficient, cost-effective use of healthcare resources
is only possible through meaningful collaborations
globally. The images seen in the cover speak about
such dynamic and vibrant cooperation amongst
scientists, researchers, academic and research
institutions to translate these discoveries in
genomics for the benefit of the people.
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M E S S AGE
My warmest greetings to the organizers and participants of the 13th Asia Pacific
Conference on Human Genetics.
Our progress in medicine and genomics requires a solid understanding of human

genetics. I am thus pleased to know that this conference brings together scientists,
educators, researchers and students to discuss trends and developments on the
field, further promoting collaboration in the Asia Pacific region.
May this occasion create solutions that will lead to better scientific knowledge and
practices in the academe, industry and healthcare settings. I look forward to the
outcomes of this event that will improve the clinical and medical applications of
genomics to improve our quality of life.
Together, let us explore more opportunities in the scientific community as we build

a more equitable, inclusive and progressive future for all.
I wish you a successful event.
Rodrigo Roa Duterte

The President of the Philippines
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ME S S AG E
On behalf of the Department of Science and Technology (DOST), I would like to

congratulate the organizers for the conduct of the 13th Asia Pacific Conference on
Human Genetics.
With the theme “Advancing Translational Medicine and Collaborations in

Genomics”, the conference aims to bring together a community of scientists,
researchers, faculty, and students from the Asia Pacific region and the world. In line
with the 2017-2023 Harmonized National Research and Development Agenda, it is
hoped that this conference will bring about greater collaboration in the Asia Pacific
region to address the gaps in translating genomics to clinical practice.
To all the participants, I strongly encourage you to take this opportunity to share
knowledge and gain new insights on OMICs for health research. The DOST
commends the conference organizers for their dedication in furthering scientific
development in the country for bringing science closer to the people in the Asia
Pacific region, especially the Filipino people.
Fortunato T. de la Peña
Secretary, Department of Science and Techology
Republic of the Philippines
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M E S S AGE
On behalf of the Department of Science and Technology – Philippine Council

for Health Research and Development (DOST-PCHRD), I gladly welcome all the
delegates of the 13th Asia Pacific Conference on Human Genetics (APCHG) with
the theme “Advancing Translational Medicine and Collaborations in Genomics.”
The Philippine Council for Health Research and Development’s mission to foster
healthier and more productive lives among Filipinos through health research
and development, specifically in the area of OMICs for Health, is in line with the
conference theme. Through this meeting, studies of the Filipino research community,
as well as the rest of the Asia Pacific region and the world, will be highlighted
and disseminated. At the same time, this will inspire young people to explore
opportunities for research in genetics. This will surely address gaps in translating
discoveries in genomics to clinical practice by strengthening collaborations in the
Asia Pacific region.
Together, let us achieve better health services and care for our fellowmen.
All the best for a fruitful and memorable 13th APCHG!
Jaime C. Montoya, MD, PhD

Executive Director, Philippine Council for Health Research and Developemnt
Department of Science and Technology
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ME S S AG E
On behalf of the University of the Philippines, I congratulate the Institute of Human

Genetics, National Institutes of Health, University of the Philippines Manila for
organizing the 13th Asia Pacific Conference on Human Genetics with the theme
“Advancing Translational Medicine and Collaborations in Genomics.”
The University of the Philippines, mandated to lead in research and public service,
is committed to serving the nation and the world through our pool of faculty
and researchers. After the Philippines hosted the APCHG-HUGO Pacific joint
conference in 2008, the feasibility of setting up a Genome Center in the University
was studied and the proposal for the establishment of the Philippine Genome
Center was approved in 2009. The PGC opened its doors with the launch of the
DNA Sequencing Core Facility in 2013, followed by the launch of the Core Facility
for Bioinformatics in 2014. The Shared Genomics Core Laboratory was inaugurated
this year. Part of the mission of the PGC is to have a deeper understanding and
application of the advanced knowledge and emerging technologies in genomics and
bioinformatics in health and medicine for the benefit of Filipinos and the rest of
humanity.
The APCHG 2019 will be a vital platform for local and foreign experts to share
experiences and exchange knowledge with colleagues in the Asia Pacific Region and
different parts of the world. This conference is also an excellent opportunity for us
to promote academic collaboration with experts from foreign academic centers and
medical research institutions. I hope that the well-crafted scientific program will
further inspire and ignite interest among the participants so that they will be able
to utilize the innovative genomic tools to help them in their practice, research, and
mentorship in the field of genomics.
I wish everyone a fruitful exchange of information, insights, and ideas.
Mabuhay po kayo!
Danilo L. Concepcion
President, University of the Philippines
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ME S S AGE S
On behalf of the organizers of the 13th Asia Pacific Conference on Human Genetics, I would like to welcome all the
distinguished faculty, scientists, researchers, and students from the Asia Pacific region and beyond to Manila. It is a
great honor to host another conference of the Asia Pacific Society of Human Genetics.
Developments in the field of genetics and genomics have significantly improved our current understanding of human
disease in the country and all over the world. The theme of this conference ‘Advancing Translational Medicine
and Collaborations in Genomics’ aims to address gaps in translating discoveries in genomics to clinical practice by
strengthening collaborations in the Asia Pacific region.
Recognizing the presence of key resource persons at the main conference, the Institute of Human Genetics, National
Institutes of Health Philippines, worked with various groups to organize preconference workshops for the further
academic enrichment of the participants making their long travel to Manila truly worthwhile. We thank the Wellcome
Trust for hosting the Wellcome Genome Campus Advanced Course on next generation sequencing analysis for
genetic diseases; the Professional Society of Genetic Counselors in Asia for organizing the 3rd Genetic Counseling
Preconference Workshop; and the Newborn Screening Reference Center for organizing the Thalassemia Workshop
for Newborn Screening Implementers and the 4th ASEAN Congress on Medical Biotechnology and Molecular
Biosciences on Emerging Issues on Hemoglobinopathies in the Asia Pacific Region.
We value the importance of training the next generation of geneticists and genetic counselors. There will also
be iGNiTE Sessions (Genomic Networking and Training with the Experts) during the second and third day of the
conference where students and trainees can discuss undiagnosed cases with the experts.
We value the role of advocacy in our highly technical field. Immediately after the main conference, the Volunteer
Youth Leaders for Health (VYLH) Philippines will hold a national congress on ‘PADAYON: Empowering the Next
Generation of Volunteer Youth Leaders for Health in the Era of Genomics’. VYLH has been the valuable partner
of the Institute of Human Genetics and the Newborn Screening Reference Center in increasing awareness among
college students. To those of you who will stay for this postconference to share your wise words on voluntarism,
please accept my appreciation of supporting the youth.
My special acknowledgement is extended to the staff of the Institute of Human Genetics and the Newborn Screening
Reference Center as they have been the workforce in the preparations of all the pre-, post- and main conferences.
Let this conference not only deepen our understanding and appreciation of genetic disorders but also strengthen
our commitment and advocacy to safeguard the health of our people through more relevant and excellent
application of genomics.
Carmencita D. Padilla, MD, MAHPS

President Emeritus, Asia Pacific Society of Human Genetics
Overall Chair, 13th Asia Pacific Conference on Human Genetics 2019
Chancellor, University of the Philippines Manila
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ME S S AG E
As the President of the Asia Pacific Society of Human Genetics, I extend a

warm welcome to all our invited speakers and delegates of the 13th Asia Pacific
Conference on Human Genetics.
It has been 25 years since the first Asia Pacific Conference on Human Genetics in
Bangkok, Thailand and almost a decade since it was held in the Philippines. In line
with the theme, Advancing Translational Medicine and Collaborations in Genomics,
the presentations in this year’s conference aim to coordinate the use of new
knowledge in genomics into clinical practice and to incorporate clinical observations
and questions into generating further research in the field of genetics and genomics.
This is only possible through meaningful collaborations among colleagues in the
region and worldwide, as well as multidisciplinary collaborations among scientists,
clinical geneticists, genetic counselors and students. I hope you find the next days
opportunities to learn and meet new friends who share the same interest in the
study of human genetics and genomics. Everyone is also encouraged to consider
joining the Asia Pacific Society of Human Genetics.
I am forever grateful to the members of the Local Organizing Committee for their
dedication and hard work as well as to the members of the Executive Committee
of the Asia Pacific Society of Human Genetics and the International Advisory
Committee for their guidance and support to put together this extraordinary
conference. Thank you to our sponsors for their invaluable partnership.
Eva Maria C. Cutiongco-de la Paz, MD

President, Asia Pacific Society of Human Genetics
Overall Co-Chair, 13th Asia Pacific Conference on Human Genetics 2019
Executive Director, National Institutes of Health, University of the Philippines Manila
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Conference Organizers
Local Organizing Committee International Advisory

Committee
Carmencita D. Padilla
Overall Chair
Joy Y. Lee
Australia
Eva Maria C. Cutiongco-de la Paz
Overall Co-Chair
Brian Hon-Yin Chung
Hong Kong
Mary Anne D. Chiong
Scientific
Sultana MH Faradz
Indonesia
Sylvia C. Estrada
Ways and Means
Yoshihide Hayashizaki
Japan
Maria Melanie Liberty B. Alcausin
Registration
Charles Lee
South Korea
April Grace D. Berboso
Physical Arrangements
Meow-Keong Thong
Malaysia
Catherine Lynn T. Silao
Exhibits
Poh-San Lai
Singapore
Mary Ann R. Abacan
Social Events
Yin-Hsiu Chien
Taiwan
Kristin Grace H. Guerrero-Gonzalez
Awards
Thanyachai Sura
Thailand
Barbra Charina V. Cavan
Monette R. Faner Dung Vu Chi
Documentation Vietnam
Conchita G. Abarquez
Publicity
Mercy Y. Laurino
USA
Zando F. Escultura
Lead Designer
Leniza G. de Castro-Hamoy
Cheryll J. Magbanua-Calalo
Michelle E. Abadingo
Ebner Bon G. Maceda
Ma-Am Joy R. Tumulak
Rufus Thomas Y. Adducul
Secretariat
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The Asia Pacific Society of Human Genetics (APSHG) is a non-profit organization,

founded in 2006, comprising persons involved or interested in the study of human
genetics in the Asia Pacific Region. The membership which include scientists,
clinical geneticists, genetic counselors and students, has steadily increased over the
past years and it welcomes members from all the major countries in the Asia-Pacific
region.
The objectives of the Society are: Past Presidents

1. to promote research in basic and applied human yy Pornswan Wasant, Thailand (2006-2008)
and medical genetics; yy Carmencita Padilla, Philippines (2008-2010)
2. to integrate professional and public education in yy Stephen Lam, Hong Kong (2010-2012)
all areas of human genetics; yy Meow-Keong Thong, Malaysia (2012-2015)
3. to provide a forum where scientists can share yy Lai Poh-San, Singapore (2015-2017)
their research findings as well as increase
or spread knowledge and understanding Some of the events held by the APSHG include
of human genetics among the various setting up a Working Group on Consolidating
professionals including health professionals, Newborn Screening, training workshops on
health policy makers, legislators and the birth defects surveillance and dysmorphology
general public. and co-hosting the Federation of Asia Oceania
Biochemistry and Molecular Biology conference.
APSHG was registered in Singapore on February The APSHG held its first Summer School and
17, 2006 after the inaugural meeting on November Bioinformatics Course in Hong Kong in 2016, and an
12, 2005 in Bangkok, Thailand. The APSHG was Autumn School of Clinical Genetics in Singapore in
accepted as Full Member of the International 2018.
Federation of Human Genetics Societies (IFHGS)
on August 6, 2006 in Brisbane, Australia during Executive Committee
the 11th International Congress of Human Genetics President: Eva Maria Cutiongco-de la Paz,
(ICHG). Philippines
President-Elect: Thanyachai Sura, Thailand
The Founding Members are: Immediate Past President: Lai Poh-San, Singapore
yy Hong Kong (China) - Chen Zhu & Stephen Lam Secretary: Brian Chung, Hong Kong
yy Indonesia - Sangkot Marzuki & Herawati Sudoyo Treasurer: Breana Cham, Singapore
yy Malaysia - M Nizam Isa & Thong Meow-Keong Auditor: Seema Kapoo, India
yy Philippines - Carmencita Padilla & Eva Maria
Cutiongco-de la Paz Board Members:
yy Singapore - Lai Poh-San & Ivy Ng Mercy Laurino, USA
yy Taiwan (ROC) - Chen Yuan-Tsong & Paul Hwu Sultana Faradz, Indonesia
Wuh-Liang Duangrurdee Wattanasirichaigoon, Thailand
yy Thailand - Suthat Fucharoen & Pornswan Wasant Yin-Hsiu Chien, Taiwan
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Institutional Sponsors
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University of the Philippines Department of Science and Technology
Platinum
Institute of Human Genetics Newborn Screening Reference Newborn Screening Center – Visayas
Center
Gold
Newborn Screening Center – Central Newborn Screening Center – Southern Newborn Screening Center – Mindanao
Luzon Luzon
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Corporate Sponsors
Platinum
Perkin Elmer
Gold
Illumina Genzyme Reckitt Benckiser
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Minor Sponsors
3Billion
Baebies
Biomarin
Bio-Rad
Cegat
Blueprint Genetics
Devyser
Diamed
DNA Genotek
Gen QA
Invitae
Lifeline
MGI
MNG Laboratories
Molave
Progeny
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Special thanks to
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Office of International Linkages

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Tourism Promotions Board Rainphil and Unilab Newborn Screening Foundation
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Pre-Conferences
Hemoglobinopathies for NBS Program Implementers

4-5 November 2019
Hemoglobinopathies, as a group of disorders, is the second most

common disorder among those detected by newborn screening
since the implementation of the Expanded Newborn Screening
(ENBS) in 2014. There has been a drastic increase in the number
of patients who confirmed positive for Hemoglobinopathies
since PhilHealth started fully covering ENBS on May 1, 2019. As
part of the efforts to increase the capacity of the NBS program
implementers in addressing the needs of the program in light of
these developments, the Newborn Screening Reference Center
(NSRC) is organizing the Workshop on Hemoglobinopathies for
NBS program implementers.
The objectives of the workshop are as follows:

1. To review the basic concepts of Hemoglobinopathies;
2. To review the challenges encountered in screening and confirmatory
technologies, management and treatment;
3. To present interesting and controversial cases in the different Newborn
Screening Centers; and
4. To review algorithms and discuss possible modifications based on data
presented.
Expected participants of the said workshop includes: Newborn Screening Center

Key Personnel; Newborn Screening Continuity Clinic Follow-up Heads and Nurses;
Genetic Counsellors; hematologists; and DOH-Center for Health Development NBS
Nurse Coordinators.
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Program 07:30 AM - 08:00 AM Registration

08:00 AM - 8.30 AM Welcome and Opening Remarks
Monday Carmencita Padilla, MD, MAHPS
Chancellor, University of the Philippines Manila
November 4,
2019 Workshop objectives
Noel Juban, MD, MSc
Director, Newborn Screening Reference Center
08:30 AM - 09:00 AM Basics of Hemoglobinopathy Newborn Screening - A Review with Updates
Bradford Therrell, MS, PhD (USA)
09:00 AM - 09:30 AM Challenges in Detecting Alpha Thalassemias Through Newborn Screening
Carolyn Hoppe (USA)
09:30 AM - 09:45 AM Open Forum
09:45 AM – 10:15 AM Coffee Break & Picture Taking
10:15 AM – 11:00 AM The Philippines Hemoglobinopathy Newborn Screening Program and Its
Challenges – Education, Screening, Follow up and Treatment
Reynaldo de Castro
Chair, Experts Committee for Hemoglobinopathies
11:00 AM - 11:30 AM Presentation of NBS results
NBS Results
Charity Jomento, Newborn Screening Reference Center
Confirmatory Results
Reynaldo de Castro, Institute of Human Genetics
Molecular Data
Catherine Lynn Silao, Institute of Human Genetics
Open Forum
11:30 AM - 12:00 NN Evaluation of Hemoglobinopathy Phenotypes when Reviewing HPLC
Chromatograms
Marco Flamini (USA)
12:00 NN - 01:30 PM Lunch
01:30 PM - 03:00 PM Interpreting Results
Carolyn Hoppe
Mr. Marco Flamini
Open Forum
03:00 PM - 04:00 PM Presentation of Interesting Cases
Reactors: Bradford Therrell, Carolyn Hoppe, Marco Falamini
Maria Paz Virginia K. Otayza (NSC-Northern Luzon)

Bernadette C. Halili-Mendoza (NSC-Central Luzon)
Alma M. Panganiban-Andal (NSC-Southern Luzon)
Anna Lea G. Elizaga (NSC-NIH)
J Edgar Winston C. Posecion (NSC-Visayas)
Liwayway Reyes (NSC-Central Visayas)
Conchita G. Abarquez (NSC-Mindanao)
Tuesday 08:30 AM - 08:45 AM Recap of Day 1

08:45 AM - 10:00 AM Workshop: Interpretation of Unknowns
November 5,
10:00 AM - 10:30 AM Tea Break
2019 10:30 AM - 12:30 PM Discussion of Algorithms
12:30 PM - 01:00 PM Summary
Closing Remarks
01:00 PM Lunch
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Pre-Conferences
Wellcome Genome Campus Advanced Course: Next Generation

Sequencing Analysis for Genetic Diseases
5-6 November 2019
Use of NGS technologies encompassing gene panels, whole exome

sequencing (WES) and whole genome sequencing (WGS) in human
genomics are increasingly becoming accessible for research and
clinical diagnostics in Asia. Despite the growing body of data being
generated, analyzing these data remains a challenge in labs with
limited capacity among scientists in the region.
This workshop aims to equip beginners with a working toolset

to analyze data generated from NGS for identifying candidate
causal variants and will provide an overview of NGS genomic
study approaches and analysis pipelines for the discovery and
validation of monogenic disease-causing variants. Participants will
be introduced to the key electronic resources and open access
website tools that can be harnessed to assess the potential
pathogenicity of variants. Case studies will be incorporated to
demonstrate key steps in research and potential utility in clinical
diagnostics.
Target Audience
The workshop is aimed at researchers and clinicians/healthcare professionals in the

field of human genomics who use or plan to use NGS approaches in their research
or clinical work.
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Alice Matimba
08:00 AM - 08:15 AM Welcome and Introductions
Tuesday Alice Matimba
November 5, Eva Maria Cutiongco - de la Paz
2019 08:15 AM - 09:00 AM Genetics Basics
09:00 AM - 10:30 AM Genomes, Genes and Genome Browsers
Jane Loveland
Ben Moore
11:00 AM - 12:00 PM Reference Variation Datasets
Ben Moore
Chumpol Ng amphiw
12:00 PM - 01:00 PM NGS Overview
Poh San Lai
Q&A
01:00 PM - 02:00 PM Lunch
02:00 PM - 03:00 PM Overview - Variant Analysis and Workflow Qc
Christian Gilissen
03:00 PM - 04:00 PM Mapping, Variant Calling, Identification De Novo & Inherited Variants,
CNVs
Christian Gilissen
Poh San Lai
04:00 PM - 04:30 PM Tea Break
04:30 PM - 05:15 PM Variant Annotation
Ben Moore
Chumpol Ng amphiw
05:15 PM - 06:00 PM Variant Filtering Strategies and Prioritization
Christian Gilissen
Poh San Lai
End of Day 1
Wednesday 07:30 AM - 08:15 AM Recap/Day review

November 6, 08:15 AM - 09:00 AM Clinical Significance and Validity/Utility
Jennifer Posey
2019 09:00 AM - 09:45 AM Case Study Exercises
Part 1
09:45 AM - 10:30 AM Case Study Exercises
Part 2
11:00 AM - 11:30 AM Case Study Exercises Continued
11:30 AM - 12:30 PM Case Study Presentations/Discussions
12:30 PM - 01:00 PM Functional Characterization & Validation, model systems
01:00 PM - 02:00 PM Lunch
02:00 PM - 02:30 PM Limitations of Genome Analysis Methods
02:30 PM - 03:30 PM Ethical Considerations
Eva Maria Cutiongco – de la Paz
03:30 PM - 04:00 PM Tea Break
04:00 PM - 04:30 PM International Networks for Causal Mutation Discovery Guidelines
and Other Resources
Jennifer Posey
04:30 PM - 05:00 PM Recap of Course, Wrap Up and Close
Alice Matimba
Poh San Lai
End of Course
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Pre-Conferences
3rd Genetic Counseling Preconference Workshop

6 November 2019
The genetic counseling preconference workshop will bring together

clinical and research genetic counselors, genetic counseling
students and other health care providers interested in the genetic
counseling profession. This workshop will promote ongoing
collaboration for genetic counselor professional development
and enhance genetic counseling training, and an opportunity to
increase awareness and effectiveness on the provision of clinical
genetic counseling services in Asia.
Attendees:
yy Genetic counselors and genetic counseling students
yy Medical doctors, nurses and researchers interested in the practice of genetic
counseling
Aims:
1. Advance the genetic counseling profession in the Asian region.
2. Provide education and enhance community engagement among genetic
counseling practitioners.
3. Opportunity to engage with colleagues and obtain professional development for
genetic counselors.
Objectives:
1. Illustrate the importance and complexities when empowering patients with a
genetic condition and their families.
2. Describe the development of the genetic counseling profession across the globe.
3. Identify and integrate counseling techniques in challenging psychosocial genetic
counseling sessions.
4. Understand the logistics when ordering genetic testing and the various
components of a genetic test result.
5. Highlight genetic counselor led research and the role of a laboratory-based
genetic counselor.
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Coffee, Tea & Light Breakfast
08:00 AM - 08:15 AM Opening Ceremonies
Wednesday Mercy Laurino
November 6, Genetic Counselor
2019 President, Professional Society of Genetic Counselors in Asia (PSGCA)
Welcome Remarks
Eva Maria Cutiongco - de la Paz
Clinical Geneticist
President, Asia Pacific Society of Human Genetics
08:15 AM - 09:00 AM Caring for Rare Disorders
Cynthia Magdaraog
President and Founder, Philippine Society for Orphan Disorders
09:00 AM - 10:00 AM The Global State of Genetic Counseling: Diversity of the Profession,
Training and Roles
Kelly Ormond
Genetic Counselor
Co - Program Director, Stanford Genetic Counseling Training Program
10:00 AM - 10:30 AM Morning Coffee/Tea Break
10:30 AM - 11:00 AM The Important Role of a Laboratory Genetic Counselor in an Academic
Institution
Chinmayee Nagaraj
Genetic Counselor
Cincinnati Children’s Hospital
11:00 AM - 11:30 AM Invitae: Genetic Testing Simplified
Sam Martin
Genetic Counselor
Regional Manager – Asia, Invitae
11:30 AM - 12:00 PM Improving Health Outcomes for Thalassemia Patients through
Community Collaboration: Establishing Initial Data
Saahil Kejriwal
Genetic Counselor
University of Washington Institute for Public Health Genomics
12:00 PM - 01:30 PM Lunch
Role Play: Genetic Counseling Session

Facilitators:
Peter James Abad
Genetic Counselor, PSGCA
Juliana Lee
01:30 PM - 03:00 PM Challenging Genetic Counseling Case Presentations
Facilitators:
Yoyo Chu
Jennifer Thompson
Genetic Counselor, Global Health Genetics
03:00 PM - 03:15 PM Afternoon Coffee/Tea Break
03:15 PM - 04:00 PM General Assembly: Professional Society of Genetic Counselors
in Asia Members
04:00 PM - 04:30 PM Progress and Future Directions
PSGCA – keeping up the momentum!
Mercy Laurino
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Pre-Conferences
4th ASEAN Congress on Medical Biotechnology and Molecular

Biosciences: Emerging Issues on Hemoglobinopathies in the Asia
Pacific Region
6-7 November 2019
The theme of the 4th ASEAN Congress on Medical Biotechnology

and Molecular Biosciences (ACMBMB) is “Emerging Issues on
Hemoglobinopathies in the Asia Pacific Region.” The congress will
bring together an outstanding assembly of experts and participants
from all over Asia and the world to discuss a very relevant group of
hemoglobin disorders that affect millions of people worldwide.

8.00 AM - 08:15 AM Welcome and Opening Remarks
Carmencita Padilla (Philippines)
Wednesday 08:15 AM – 09:00 AM Chair: Carmencita Padilla (Philippines)
November 6, Co-Chair: Sylvia Estrada (Philippines)
2019
Keynote Address
Global Globin: 2020 and beyond, the challenges ahead
Zilfalil Alwi (Malaysia)
09:00 AM – 09:30 AM Burden of Thalassemias in the World
Suthat Fucharoen (Thailand)
09:30 AM – 10:00 AM Coffee Break & Picture taking
ASEAN Congress on Molecular Biotechnology and Molecular Biosciences (ACMBMB) Session
Chair: Hai Yang Law (Singapore)
Co - Chair: Leslie Michelle Dalmacio (Philippines)
10:00 AM – 10:20 AM Updates on Stem Cell Therapy for Inherited Genetic Disorders
Gerard Pals (Netherlands)
10:20 AM – 10:40 AM Precision Medicine in Cancers
Catherine Lynn Silao (Philippines)
10:40 AM - 11:00 AM Emerging Diagnostic Tools
Leslie Michelle Dalmacio (Philippines)
11:00 AM – 11:30 AM Open Forum
11:30 AM – 1:00 PM Luncheon Symposium Industry Sponsored (Bio-Rad and Lifeline)
Assessing Cutoffs for HbA in Newborns
Supachai Ekwattanakit (Thailand)
Screening Programs around the World
Marco Flamini (USA)
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Newborn Screening Session

Chair: Catherine Lynn Silao (Philippines)
Co - Chair: Conchita Abarquez (Philippines)
01:00 PM – 01:20 PM Newborn Screening of Hemoglobinopathies (CLSI)
Bradford Therrell (USA)
01:20 PM – 01:40 PM Newborn Screening of Thalassemias: Challenges in Diagnosis and
Treatment
Carolyn Hoppe (USA)
01:40 PM – 02:00 PM Issues in Genetic Counseling of Thalassemias
Ma-Am Joy Tumulak (Philippines)
02:00 PM – 02:20 AM Living with Thalassemia: Promoting Patient Advocacy Programs
Meghan Foe (USA)
Plenary Symposium: Thalassaemia Programs
Chair: Bradford Therrell (USA)
Co - Chair: Ernesto Yuzon (Philippines)
02:20 PM–03:30 PM Reynaldo de Castro, Jr. (Philippines)
Zarina Abdul Latiff (Malaysia)
Sri Mulatsih (Indonesia)
Hai Yang Law (Singapore)
Mas Rina Wati Binti haji Abdul Hamid (Brunei)
Nguyen Hoang Nam (Vietnam)
03:30 PM–04:00 PM Open Forum
Tea Break
Malaysian Society of Human Genetics Session
Chair: Suthat Fucharoen (Thailand)
Co - Chair: Zilfalil Bin Alwi (Malaysia)
04:00 PM – 04:10 PM EduVariome HVP Malaysia: Promoting Knowledge and Awareness on
Thalassemia Among Students
Nik Norliza Nik Hassan (Malaysia)
04:10 PM – 04:20 PM Telomerase & Cancer: Potential influence of TERT & TERC genes in
Chronic Myeloid Leukaemia patients
Sarina Sulong (Malaysia)
04:20 PM – 04:30 PM Genetics of neonatal jaundice in Malaysian infants
Surini Yusoff (Malaysia)
04:30 PM – 04:40 The potential of amniotic membrane in cells therapy: Experience from
angiogenic and osteogenic differentiated cells
Azlina Ahmad (Malaysia)
04:40 PM – 05:00 PM Open Forum
04:50 PM – 05:00 PM Summary and Closing for Day 1
Carmencita D Padilla (Philippines)
Catherine Lynn Silao (Philippines)
Day 2 is integrated with Asia Pacific Conference on Human Genetics. There are 2 simultaneous sessions
dedicated to Hemoglobinopathies
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Post-Conferences
4th Volunteer Youth Leaders for Health-Philippines National

Leadership Congress and 10th Year Anniversary
PADAYON: Empowering the Next Generation of Volunteer Youth Leaders for Health in
the Era of Genomics
10-11 November 2019
The Volunteer Youth Leaders for Health-Philippines (VYLH-Philippines) National

Leadership Congress is a special national gathering of volunteer youth leaders
which aims to strengthen the network, facilitate the exchange of experiences among
volunteers, and update the members on the network’s advocacies and other health
concerns. The event also provides an avenue for recommissioning and recognition
of volunteers, election of national officers and development of national plans. The
previous editions of the VYLH-Philippines National Leadership Congress were held
in 2011, 2012 and 2013. In 2013, the Congress was held as a pre-conference event to
the 6th International Conference on Birth Defects and Disabilities in the Developing
World held in Mactan, Cebu.
Program 08:00 AM - 10:00 AM Opening Ceremonies
Welcome Remarks
Sunday Rufus Thomas Adducul, I3, Congress Head, VYLH
November 10,
Message
2019 Carmencita Padilla, Founding Adviser
Acknowledgement of Partners
VYLH Video Summary: “VYLH Through The Years”
State of a Network Address

Christian Emmanuel Enriquez, K4, National President, VYLH
SESSION 1: Reduction of Birth Defects and Preterm Births in the Genomic Era
10:00 AM - 10:15 AM 1.1 The Genetics of Birth Defects and Preterm Births
Eva Cutiongco-de la Paz, Executive Director, National Institutes of Health,
UP Manila
10:15 AM - 10:30 AM 1.2 Preconception Health in the Prevention of Birth Defects and
Preterm Birth
Salimah Walani, Vice President of Global Programs, March of Dimes
10:45 AM - 11:00 AM 1.3 VYLH and Preconception Health: The Experience of Kabilin
Kalusugan for LB Nanays
Jeanne Ruth Basas, Kabilin, VYLH
11:00 AM - 11:15 AM 1.4 Folic Acid PH and World BDDay: Revolutionizing Advocacy
Promotion Through Social Media
Ryan John Pascual, Pioneer, VYLH
11:15 AM - 11:30 AM 1.5 Next Steps in the VYLH Advocacy on Birth Defect Prevention and
Preconception Health Promotion
Rufus Thomas Adducul, I3, VYLH
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Program Book
11:30 AM - 11:45 AM Reaction

Barbara Cavan, Clinical Geneticist, Cluster Adviser, VYLH Visayas
11:45 AM - 12:00 PM Open Forum
12:00 PM - 12:15 PM Launching of Preconception Health Promotion as the 4th Primary
Advocacy
12:15 PM - 1:15 PM LUNCH
SESSION 2: ENBS: Opening the Doors for Youth Participation in Genomics
01:15 PM - 01:30 PM Icebreaker
01:30 PM - 01:45 PM 2.1 ENBS in the Philippines: What’s new?
Mary Ann Abacan, Cluster Adviser, VYLH NCR
01:45 PM - 02:00 PM 2.2 VYLH Best Practices in Advocating NBS and ENBS
John Paul Oira, K4, VYLH
Floyd P. Edrea, Pioneer, VYLH
02:00 PM - 02:15 PM 2.3 Next Steps for the VYLH ENBS Advocacy
Christian Emmanuel Enriquez, K4, VYLH
02:15 PM - 02:30 PM Reaction
Conchita Abarquez, Cluster Adviser, VLYH Mindanao
02:30 PM - 02:45 PM Open Forum
SESSION 3: A Decade of Caring for the Rare
03:00 PM - 03:15 PM Icebreaker
03:15 PM - 03:30 PM 3.1 Understanding the ABC’s of Rare Disease and the Law
Carmencita Padilla, Founding Adviser, VYLH
03:30 PM - 03:45 PM 3.2 VYLH Journey in Advocating for Rare Disease Law
Edbert Jasper Jover, Genetic Counselor, NSC Mindanao
03:45 PM - 04:00 PM 3.3 Advocacy Opportunities Beyond the Rare Disease Law
Karen Panol, Newborn Screening Reference Center
04:00 PM - 04:15 PM
Reaction
Cynthia Magdaraog, President, Philippine Society for Orphan Disorders

05:00 PM - 06:00 PM Preparation for the Fellowship and Cultural Night
06:00 PM - 06:30 PM Cocktail Dinner
Video Messages from Volunteers
06:30 PM - 09:00 PM FELLOWSHIP AND CULTURAL NIGHT with
Recognition of Outstanding Volunteers and Partners
Renewal of Commitment
Monday SESSION 4: VYLH Gearing Towards Global Health Impact

November 11, 08:00 AM - 08:30 AM 4.1 Sustainable Development Goals
Jules Guiang, Founder and National Convenor, 2030 Youth Force in the
2019 Philippines Inc
08:30 AM - 09:00 AM 4.2 Mental Health
Raymond John Naguit, National Chairperson Youth for Mental Health
Coalition
09:00 AM - 09:30 AM 4.3 Climate Change and Health
Javan Lev Poblador, Director for Design and Creatives, Climate Educate
Project
10:00 AM - 12:00 PM Turn-over and Transition
Orientation of Plans and Transitions
Presentation of Operational Manual Outline
Election Guidelines and Election Proper
Turn-Over Ceremonies
Cluster Plan Presentations (for the next two years)
12:00 PM - 01:00 PM LUNCH
02:00 PM Departures
25
Program at a Glance
Day Day Day

1 November 7, 2019 2 November 8, 2019 3 November 9, 2019
07:30 AM - 08:30 AM 07:30 AM - 08:30 AM 07:30 AM - 08:30 AM

Registration iGNiTE Sessions: Genomic Networking and Training iGNiTE Sessions: Genomic Networking and
with the Experts (Undiagnosed Interesting Cases) Training with the Experts (Skeletal Dysplasias)
08:30 AM - 09:30 AM 08:30 AM - 10:00 AM 08:30 AM - 09:15 AM
Opening Ceremonies Simultaneous Symposia Plenary Session 6
9. Elucidating the Genetics of Complex Diseases: Comprehensive Application of Multi - omic
Where Are We Now? Approaches for the Genetic Elucidation of
10. Understanding Future Trends of Metagenomics, “Rare Diseases”
Proteomics and Metabolomics
11. Solving the Brain Enigma: The Value of Genomics
in Neuropsychiatric Disorders
12. Disorders of Sexual Development: Integrating
Clinical and Genetic Approaches
9:30 AM - 10:00 AM 10:00 AM - 10:30 AM 9:15 AM - 10:00 AM
Opening of Exhibits Coffee Break Plenary 7
Coffee Break Visit to Exhibits Gearing Up for the Phenomics Era
10:00 AM - 11:00 AM 10:30 AM - 12:00 PM 10:00 AM - 11:00 AM
Keynote Plenary Simultaneous Symposia Coffee Break
Two Tales of Translational Genomics: Pediatric 13. Improving the Landscape of LSD Care Through Visit to Posters and Exhibits
Genetics and Inherited Breast and Ovarian Cancer Diagnosis and Therapeutics (Sanofi Genzyme
Session)
14. OMICS Technologies for Optimized and
Personalized Medicine (DOST- PCHRD Session)
15. Illumina Genomics Session
16. The Emerging Role of Enhancers in Gene
Regulation (RIKEN Session)
17. Inventing the Future: MD - PhD’s Researches on
Spotlight
11:00 AM - 12:00 PM 12:00 PM - 12:30 PM 11:00 AM - 11:45 AM
Plenary Session 2 Visit to Exhibits Closing Plenary
Organs on Chip: Advancing Therapies for Rare and Clinical and Ethical Implications of CRISPR
Complex Rare Diseases and Tools for Precision Therapies
Medicine
12:00 PM - 1:00 PM 12:30 PM - 1:30 PM 12:00 PM - 1:00 PM
Perkin Elmer Luncheon Symposium Sanofi Genzyme Luncheon Symposium Mead Johnson Luncheon Symposium
01:00 PM - 02:00 PM 01:30 PM - 02:30 PM 01:00 PM - 01:30 PM
Poster Session 1 Poster Session 2 Closing Ceremonies
Visit to Exhibits Visit to Exhibits
02:00 PM - 03:30 PM 02:30 PM - 03:30 PM
Simultaneous Symposia Global Perspectives in Genomics and Medicine: An
1. Genetic Risk Assessment and Counselling in the APSHG - HUGO Plenary Session
Era of Genomics Precision Medicine: Making Sense of DNA Variants
2. Revolutionizing Newborn Screening: New Oncogenomics: Closing the Cancer Gap
Developments and New Dilemmas
3. Prenatal Genetics: How Genetic Technologies
Are Shaping Reproductive Decision - Making
4. ACMBMB Hemoglobinopathies: Advances in
Diagnosis and Innovative Therapeutics
03:30 PM - 04:00 PM 03:30 PM - 04:15 PM
Coffee Break Plenary Session 4
Visit to Exhibits Rare are Common: How Rare Diseases Reveal
Molecular Pathways for Common Disorders
04:00 PM - 05:30 PM 04:15 PM - 05:00 PM
Simultaneous Symposia Plenary Session 5
5. Advances in the Diagnosis and Therapy of Precision Public Health for Infectious Diseases in
Inherited Metabolic Diseases Asia
6. Discerning the Phenotypes of Genetic Disorders
Through Next Generation Sequencing
7. Patterns and Predictions of Genetic Migration in
Asia
8. ACMBMB Hemoglobinopathies
06:00 PM - 07:30 PM 05:00 PM - 07:00 PM
APSHG Biennial Meeting (Members Only) Poster Session 3
Coffee Break and Visit to Exhibits
07:00 PM - 09:00 PM
Fellowship Night
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Program Book
APCHG Conference
Day 1
November 7, 2019
07:30 AM - 08:30 AM Registration
08:30 AM - 09:30 AM Opening Ceremonies
Opening of Exhibits
9:30 AM - 10:00 AM
Coffee Break
10:00 AM - 11:00 AM Keynote Plenary (Rizal Ballroom ABC)
Chair: Carmencita Padilla
Two Tales of Translational Genomics: Pediatric Genetics and Inherited Breast

and Ovarian Cancer
Mary-Claire King (USA)
11:00 AM - 12:00 PM Plenary Session 2 (Rizal Ballroom ABC)
Chair: Lai Poh San
Organs on Chip: Advancing Therapies for Rare and Complex Diseases and Tools
for Precision Medicine
Danilo Tagle (USA)
12:00 PM - 1:00 PM Luncheon Symposium (Industry Sponsored: Perkin Elmer) (Rizal Ballroom ABC)
Newborn Screening Pilot for Duchenne muscular dystrophy (DMD) using GSP
CK-MM kit as first tier and NGS for confirmatory testing
Veronica Wiley (Australia)
01:00 PM-02:00 PM Poster Session 1
Visit to Exhibits
Simultaneous Symposia (SS)
02:00 PM-03:30 PM SS 1: Genetic Risk Assessment and Counselling in the Era of Genomics
(Rizal Ballroom A)
Chair: Felicitas Lacbawan
Moderator: Peter James Abad
27
02:00 PM - 02:20 PM A: Genetic Counselling for Cancer: When Somatic Tumor Testing and Germline
Mutations Meet
Mercy Laurino (USA)
02:20 PM - 02:40 PM B: Facilitating Cascade Family Testing: Challenges And Prospects in an Under
Resource Region
02:40 PM - 03:00 PM Breana Cham (Singapore)
C: Common Ethical Issues in Genetics and Genomics: A Clinic Based Experience
Stephen Lam (Hong Kong)
03:00 PM - 03:10 PM D: Establishing A Statewide Genetic Counselors’ Association Through an
Iterative Process Free Paper
Kunal Sanghavi (USA)
03:10 PM - 03:20 PM E: Reclassification of Variants of Unknown Significant (VUS): Impact on Clinical
Management and Genetic Counseling Free Paper
Rifhan Azwani Mazlan (Malaysia)
02:00 PM - 03:30 PM SS 2:Revolutionizing Newborn Screening: New Developments and New
Dilemmas (Rizal Ballroom B)
Chair: Meow-Keong Thong
Moderator: Leniza de Castro-Hamoy
02:00 PM - 02:20 PM A: Genomic Sequencing of Newborns
02:20 PM - 02:40 PM B: Newborn Screening Beyond Metabolic Disorders: Successes and Challenges
in Introducing New Tests
02:40 PM - 03:00 PM C: Newborn Screening for LSDs: Current Status and Future Directions
Yin-Hsiu Chien (Taiwan)
03:00 PM - 03:10 PM D: Cystic Fibrosis in Asia, an Underestimated Problem Free Paper
03:10 PM - 03:20 PM E: Newborn Screening for Lysosomal Storage Disorders: Comparing
Performance of Tandem Mass Spectrometry and Digital Microfluidics
Platforms Free Paper
02:00 PM - 03:30 PM SS 3: Prenatal Genetics: How Genetic Technologies Are Shaping Reproductive
Decision-Making (Rizal Ballroom C)
Chair: Benjamin Roa
Moderator: April Grace Berboso
02:00 PM – 02:20 PM A: Cytogenomic Array and Prenatal Applications: Diagnostic and Counselling
Issues
Brian Chung (Hong Kong)
02:20 PM - 02:40 PM B: Prenatal Genetic Screening: Current Guidelines and Recommendations
Juliana Lee (Malaysia)
02:40 PM – 03:00 PM C: What Not to Expect When You Are Expecting: Causes of Discordant NIPT
Results
Kathleen Leppig (USA)
03:00 PM - 03:10 PM D: Clinical Implementation of Chromosomal Microarray as Aa Primary Test for
Prenatal Diagnosis in Hong Kong Free Paper
Chung Claudia Ching Yan (Hong Kong)
03:10 PM - 03:20 PM E: Experiences of Chromosome Analysis Confirmation of NIPT for Numerical
Chromosome Abnormality in Indonesia Free Paper
Hannie Kartapradja (Indonesia)
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Program Book
02:00 PM - 03:30 PM SS 4: ACMBMB Hemoglobinopathies: Advances in Diagnosis and Innovative

Therapeutics (Pasay AB)
Chair: Carolyn Hoppe
Moderator: Catherine Lynn Silao
02:00 PM - 02:20 PM A: Novel Screening for Thalassemia by NGS
Chen Ping (China)
02:20 PM - 02:40 PM B: Diagnosis and Classification of Non-transfusion Dependent Thalassemias
02:40 PM - 03:00 PM C: Gene Therapy for Thalassemia: Discoveries in the New Millennium
03:00 PM - 03:20 PM D: Global Globin 2020: Asian Perspective
Coffee Break
03:30 PM - 04:00 PM
Visit to Exhibits
04:00 PM - 05:30 PM SS 5: Advances in the Diagnosis and Therapy of Inherited Metabolic Diseases
(Rizal Ballroom A)
Chair: Veronica Wiley
Moderator: Mary Ann Abacan
4:00 PM - 4:20 PM A: Inherited Small Molecule Disorders: Current and Future Therapies
Joy Lee (Australia)
4:20 PM - 4:40 PM B: Treatable Inherited Disorders Revisited
MK Thong (Malaysia)
4:40 PM - 5:00 PM C: Broadening the Phenotypes of Inherited Metabolic Diseases: New
Discoveries Through WES
John Christodoulou (Australia)
5:00 PM - 5:20 PM D: Autologous Transplantation with Genetically Edited Stem Cells for IEM:
Pitfalls and Possibilities
4:00 PM - 5:30 PM SS 6: Discerning the Phenotypes of Genetic Disorders Through Next
Generation Sequencing (Rizal Ballroom B)
Chair: Yin-Hsiu Chien
Moderator: Maria Melanie Liberty Alcausin
4:00 PM-4:20 PM A: Whole Genome Sequencing in Severe Intellectual Disability
Christian Gilissen (Netherlands)
4:20 PM-4:40 PM B: Next Generation Sequencing: Efficient Tool for the Diagnosis of Rare Genetic
Syndromes
Lai Poh San (Singapore)
4:40 PM-5:00 PM C: Targeted Sequencing for Skeletal Dysplasia: Paving the Way for Gene
Discoveries
David Sillence (Australia)
5:00 PM-5:20 PM D: Pre and Postanalytical Challenges of NGS: Time for Solutions
Felicitas Lacbawan (USA)
5:20 PM-5:30 PM Open Forum
29
4:00 PM-5:30 PM SS 7: Patterns and Predictions of Genetic Migration in Asia

Chair: Maria Corazon de Ungria
Moderator: Kristin Grace Guerrero-Gonzalez
4:00 PM-4:20 PM A: Patterns of Genetic Admixture Across the Indonesian Archipelago
Herawati Sudoyo (Indonesia)
4:20 PM-4:40 PM B: A Filipino Genomes Research Program: Representing the Underrepresented
in Genomics Research
Frederick Delfin (Philippines)
4:40 PM-5:00 PM C: Population Genetic Structure in Malaysian Sub-Ethnic Groups
5:00 PM-5:20 PM D: Population Genetics in China in the Context of Precision Medicine
Xu Shuhua (China)
4:00 PM-5:30 PM SS 8: ACMBMB Hemoglobinopathies (Pasay AB)
Chair: Suthat Fucharoen
Moderator: Leslie Michelle Dalmacio
4:00 PM-4:20 PM A: Stem Cell-based Therapies in Thalassemias
4:20 PM-4:40 PM B: Point of Care Testing for Hemoglobinopathies with Focus on Thalassemias
Carolyn Hoppe (USA)
4:40 PM-4:50 PM C: Vienna Stripassays as an Efficient Tool for the Detection of α and β
Thalassemia Mutations Free Paper
Robin Sandra Roch (Singapore)
4:50 PM-5:00 PM D: Alpha Beta Globin Gene Cluster Haplotypes of Thalassemia Patients in
Indonesia – Are they useful for population biomarkers? Free Paper
Ita Margaretha Nainggolan (Indonesia)
5:00 PM-5:10 PM E: Diagnostic Yield for Further Investigation of Cases with Presence of HbH
Inclusion Bodies Free Paper
Wendy Meow Hong Low (Singapore)
6:00 PM-7:30 PM APSHG Biennial Meeting (Members only) (Rizal A)
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Program Book
APCHG Conference
Day 2
November 8, 2019
07:30 AM - 08:30 AM iGNiTE Sessions: Genomic Networking and Training with the Experts

(Undiagnosed Interesting Cases) (Rizal Ballroom A)
Brian Chung (Hong Kong) & Eva Maria Cutiongco-de la Paz (Philippines)
Simultaneous Symposia (SS)
08:30 AM - 10:00 AM SS 9: Elucidating the Genetics of Complex Diseases: Where Are We Now? (Rizal
Ballroom A)
Chair: Joy Lee
Moderator: Leniza de Castro-Hamoy
08:30 AM - 08:50 AM A: Genetic Testing for Companion Diagnostic Applications in Cancer
Benjamin Roa (USA)
08:50 AM - 09:10 AM B: Integrating Multi-Omics Data for Diabetes Mellitus: Outcomes and
Challenges
Mark Seielstad (USA)
09:10 AM - 09:30 AM C: The Promise of Precision Medicine: Molecular Profiling of Neuroendocrine
Tumors and Its Clinical Potential
Thanyachai Sura (Thailand)
09:30 AM - 09:50 AM D: Modeling the Aging Process Using Tissue Chips In Space
Danilo Tagle (USA)
08:30 AM - 10:00 AM SS 10: Understanding Future Trends of Metagenomics, Proteomics and
Metabolomics (Rizal Ballroom B)
Chair: Charles Lee
Moderator: Barbra Charina Cavan
08:30 AM - 08:50 AM A: Diagnostic Metagenomics: Applications in the Diagnosis of Dengue Infection
Martin Hibberd (UK)
08:50 AM - 09:10 AM B: Asian Microbiome Project: Strains, Functions and Dynamics
09:10 AM - 09:20 AM C: miRNAs-C19M Regulate the Proliferation, Invasion and Migration in SKBR3
Cell Lines Free Paper
Andres Felipe Aristizabal Pachon (Colombia)
09:20 AM - 09:30 AM D: SINEUPs: a new antisense, long non-coding RNA-based platform to increase
endogenous protein levels for therapy Free Paper
Stefano Gustincich (Italy)
09:30 AM - 09:40 AM E: Preliminary Investigation on the Role of Canonical and Novel, Non-hotspot
KRAS Mutation in Metabolic Reprogramming Free Paper
Joelle Noriko Galang (Philippines)
31
8:30 AM - 10:00 AM SS 11: Solving the Brain Enigma: The Value of Genomics in Neuropsychiatric
Disorders (Rizal Ballroom C)
Chair: Stephen Lam
Moderator: Mary Anne Chiong
08:30 AM - 08:50 AM A: What Can Peripheral Gene Expression Tell Us About Autism Spectrum
Disorders (ASD)?
Richard Ebstein (Israel)
08:50 AM - 09:10 AM B: Solving the Mystery of the Genetic Cause of X-Linked Dystonia-
Parkinsonism: An Integrative Genomics for Rare Neurologic Diseases
Aloysius Domingo (USA)
09:10 AM - 09:30 AM C: Regulation of Neurofibromin 2 by MicroRNAs: Roles in Nervous System
Tumors and Other Malignancies
Reynaldo Garcia (Philippines)
09:30 AM - 09:50 AM D: Brain-on-a-Chip: Human Induced Pluripotent Stem Cells (hIPSCs) as An Ex-
vivo Tool for Genetic Classification and Personalized Medicine
Hans van Bokhoven (Netherlands)
08:30 AM - 10:00 AM SS 12: Disorders of Sexual Development: Integrating Clinical and Genetic
Approaches (Pasay AB)
Chair: Mercy Laurino
Moderator: Sylvia Estrada
08:30 AM - 08:50 AM A: Evaluation of Disorders of Sexual Development: Existing Practices and Novel
Gene Breakthroughs
Dung Vu Chi (Vietnam)
08:50 AM - 09:10 AM B: Differences of Sex Development (DSD): Pivotal Roles of Laboratory
Genomics in Diagnosis, Management, Medical Education, and Research
Inaamarillo (USA)
09:10 AM - 09:30 AM C: Gender Assignment and Counseling for Disorders of Sexual Development
Sultana Faradz (Indonesia)
09:30 AM - 09:40 AM D: Hormonal and Genotypic Profiles of Individuals Carrying Mutations at
SRD5A2 Gene Free Paper
Nanis Marzuki (Indonesia)
09:40 AM - 09:50 AM E: AR Gene Mutation Analysis of Undervirilized 46, XY Males in Indonesian
Population Free Paper
Nurin Aisyiyah Listyasari (Indonesia)
10:00 AM - 10:30 AM Coffee Break
Visit to Exhibits
10:30 AM - 12:00 PM SS 13: Improving the Landscape of LSD Care through diagnosis and
therapeutics (Sanofi Genzyme sponsored symposium) (Rizal Ballroom A)
Chair: Mary Anne Chiong
Moderator: April Grace Dion-Berboso
32
Program Book
10:30 AM - 10:40 AM A: Taiwan Experience of a Nationwide NBS Program for Gaucher Disease
10:40 AM - 10:50 AM B: How to Improve Gaucher Disease Diagnosis: Signs and Symptoms
10:50 AM - 11:10 AM C: Diagnosis and Treatment of Gaucher Disease
Damayanti Rusli Sjarif (Indonesia)
11:10 AM - 11:30 AM D: How to Improve MPS 1 Diagnosis
Ratna Puri (India)
11:30 AM - 11:50 AM E: Screening and Treatment of MPS in Vietnam
10:30 AM - 12:00 PM SS 14: OMICS Technologies for Optimized and Personalized Medicine (DOST-
PCHRD Sponsored Symposium) (Rizal Ballroom B)
Chair: Barbra Cavan
Moderator: Maria Melanie Liberty Alcausin
10:30 AM - 10:50 AM A: Leptospirosis: Mechanistic Insights and Potential Molecular Prognosticators
Jose Nevado Jr. (Philippines)
10:50 AM - 11:10 AM B: Genetic Susceptibility to SLE Among Filipinos
Michael ee (Philippines)
11:10 AM - 11:30 AM C: Genetic Susceptibility to Cardiovascular Disease Among Filipinos
Eva Maria Cutiongco-de la Paz (Philippines)
11:30 AM - 11:50 AM D: Vitamin D Receptor Mutations and Fragility Fractures
Cynthia Saloma (Philippines)
10:30 AM - 12:00 PM SS 15: Illumina Genomics Session (Rizal Ballroom C)
Chair: Mark Seielstad
Moderator: Conchita Abarquez
10:30 AM - 10:50 AM A: Looking for Disease Genetic Markers Among Epigenetic Profiles
George Anene-Nzelu
10:50 AM - 11:10 AM B: Polygenic Risk Scores and Complex Disease
Peter Coleman
11:10 AM - 11:30 AM C: Polygenic Risk Scores and Breast Cancer
Jingmei Li
11:30 AM - 11:50 AM D: Accurate and Accelerated Analysis Solutions for Illumina NGS Data
Yue Ying Tan
10:30 AM - 12:00 PM SS 16: The Emerging Role of Enhancers in Gene Regulation (RIKEN Sponsored
Symposium) (Pasay A)
Chair: Catherine Lynn Silao
Moderator: Monette Faner
10:30 AM - 10:45 AM A: Overview of the Enhancerome Discovered in the FANTOM
Yoshihide Hayashizaki
10:45 AM - 11:30 AM B: Novel NET-CAGE Technology Reveals the Dynamics and Topology of Human
Cis-Regulatory Elements
Yasuhiro Murakawa
11:30 AM - 12:00 PM C: Variation and Evolution of Shh Enhancers
Toshihiko Shiroishi
33
10:30 AM - 12:00 PM SS 17: Inventing the future: MD-PhDs’ researches on spotlight (PCHRD
sponsored symposium) (Pasay B)
Moderator: Leslie Michelle Dalmacio
10:30 AM - 10:40 AM A: Identification of Circulating Leptospira Among Humans and Animals in
Cabanatuan, Iloilo, Philippines
Pia Regina Fatima Zamora
10:40 AM - 10:50 AM B: Characterization of Epithelial Ovarian Cancer Patients in a Philippine
Tertiary Hospital
Ryan Cristian Lintao
10:50 AM - 11:00 AM C: Circulating MicroRNAs as Biomarkers for Hepatic Fibrosis Progression in
Schistosomiasis
Ian Kim Tabios
11:00 AM - 11:10 AM D: Metagenomic Profiling of Gut Microbiome Among the Risk Groups of
Atherosclerotic Coronary Artery Disease
Mark Joseph Abaca
11:10 AM - 11:20 AM E: Gene expression Analyses of CIDEC and S100A4 in Metastatic Human
Papillary Thyroid Carcinoma
Charles Patrick Uy
11:20 AM - 11:30 AM F: Identification of Alpha Globin Gene Mutations in Filipino Newborns
Diagnosed with Alpha Thalassemia
Mark John Girasol
11:30 AM - 11:40 AM G: Role of Hypoxia-induced Factor 1A (HIF1A) on Intermittent Hypoxia-induced
Adipose Tissue Dysfunction in Type 2 Diabetes Mellitus
Josept Mari Poblete
12:00 PM - 12:30 PM Visit to Exhibits
12:30 PM - 01:30 PM Luncheon Symposium (Industry Sponsored: Sanofi Genzyme) (Rizal Ballroom
ABC)
Common and Uncommon Symptoms , Diagnosis and Management Challenges

in Pompe Disease
Ratna Puri (India)
Revisiting Current Consensus on the Diagnosis and Treatment of Pompe Disease

Kanya Suphapeetiporn (Thailand)
01:30 PM - 02:30 PM Poster session 2
Visit to Exhibits
Global Perspectives in Genomics and Medicine (APSHG-HUGO Plenary
Session) (Rizal Ballroom ABC)
Chair: Eva Maria Cutiongco-de la Paz
02:30 PM - 03:00 PM Precision Medicine: Making Sense of DNA Variants

Charles Lee (South Korea)
03:00 PM - 03:30 PM Oncogenomics: Closing the Cancer Gap

Edison Liu (Singapore)
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Program Book
03:30 PM - 04:15 PM Plenary Session 4

(Rizal Ballroom ABC)
Chair: Thanyachai Sura
Rare Are Common: How Rare Diseases Reveal Molecular Pathways for Common
Disorders
Bruno Reversade (Singapore)
04:15 PM - 05:00 PM Plenary Session 5 (Rizal Ballroom ABC)
Chair: Sultana Faradz
Precision Public Health for Infectious Diseases in Asia

Martin Hibberd (UK)
Poster Session 3
05:00 PM - 07:00 PM
Coffee Break and Visit to Exhibits
Fellowship Night
07:00 PM - 09:00 PM
35
APCHG Conference
Day 3
November 9, 2019
07:30 AM - 08:30 AM iGNiTE Sessions: Genomic Networking and Training with the Experts (Skeletal

Dysplasias) (Rizal Ballroom A)
David Sillence (Australia) and Maria Melanie Liberty B. Alcausin (Philippines)
08:30 AM - 09:15 AM Plenary Session 6
Chair: Brian Chung
Comprehensive Application of Multi-omic Approaches for the Genetic

Elucidation of Rare Diseases
9:15 AM - 10:00 AM Plenary Session 7 (Rizal Ballroom ABC)
Chair: Meow-Keong Thong
Gearing Up for the Phenomics Era

Li Jin (China)
10:00 AM - 11:00 AM Poster Session 3
Coffee Break
Visit to Posters and Exhibits
11:00 AM - 11:45 AM Closing Plenary (Rizal Ballroom ABC)
Chair: Mercy Laurino
Clinical and Ethical Implications of CRISPR Therapies

Kelly E. Ormond (USA)
12:00 PM - 1:00 PM Luncheon Symposium (Industry Sponsored: Reckitt Benckiser)
The Value of Nutrition in IEM Disorders from the Philippines ENBS Program
Mary Anne D. Chiong (Philippines)
01:00 PM - 01:30 PM Closing Ceremonies
36
Program Book
Venue Map
Lower Level 1 Level 1
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EX
PASIG
ROOM C PASIG
ROOM B
37
Conference Details
Conference Venue Commercial Exhibits before. All presentations will be

uploaded in the official computers.
All sessions will be held at the The commercial exhibits will be Use of personal computers will not
Makati Shangri-La Manila, Makati, held throughout the conference be allowed. Conference technical
Philippines. Makati Shangri-La, at the Gallery and the Makati A/B personnel will be present to provide
Manila is a renowned five-star luxury Function Rooms, Ground Floor, assistance.
hotel in Makati City. The hotel is Makati Shangri-La Manila. Corporate
within walking distance from some of and Institutional Sponsors will be The Secretariat’s Room is located at
the popular shopping malls in Manila. participating. The exhibits will be the Mandaluyong Function Room,
This hotel in Makati is located just open to all delegates. Ground Floor, Makati Shangri-La
20 minutes away from the airport Manila will be open as follows:
and is a luxurious sanctuary for both Arrival
business and leisure travelers. For Wednesday, November 6, 2019
culture lovers, visit the old city of International delegates will arrive 07:00 AM - 05:00 PM
Intramuros or Ayala Museum to learn at the Ninoy Aquino International
more about Filipino culture and Airport in Pasay, Metro Manila. For Thursday, November 7, 2019
history. the local delegates, domestic flights, 07:00A M – 05:00 PM
land or sea routes to Manila are
Conference Secretariat available depending on the place of Friday, November 8, 2019
origin. 07:00 AM – 05:00 PM
Institute of Human Genetics
National Institutes of Health Transfer Saturday, November 9, 2019
University of the Philippines Manila 07:00 AM – 11:00 AM
Pedro Gil Street, Ermita 1000, There are various options for getting
Manila around the city. Airport transfer Information and Assistance Desk
Philippines may be arranged directly with the For further assistance and additional
hotel. Alternatives include metered information, you may proceed
Telefax +63 2 8310 3957 taxis, transportation network vehicle to the Secretariat’s Room or you
Email: secretariat@apchg2019.org services (TNVS) and other public may approach any member of the
Website: http://www.apchg2019.org utility vehicles. Conference Secretariat.
Language Speaker’s Preview Room Internet
The official language of the Speakers are requested to All rooms at the Makati Shangri-La
convention is English. submit their presentations to the Manila have Wi-Fi access.
Secretariat at the Mandaluyong
Scientific Poster Exhibits Function Room (Ground Floor,
Makati Shangri-la Manila) at least
Posters will be on display at the 4 hours prior to their talk. For
Manila A/B Function Rooms. speakers giving talks at 8-10 AM,
slides should be submitted the night
38
Program Book
Visit to the Poster Exhibits Schedule
Posters will be displayed at the Wednesday, November 6

Manila A/B Function Rooms. 03:00 PM – 05:00 PM
Presenters are requested to be Setting up of posters
present by their posters during the
assigned sessions for discussions Thursday, November 7
with the delegates. 07:00 AM – 07:45 AM
Setting up of posters
The poster registration booth will
be at the foyer of the Manila A/B 01:00 PM – 02:00 PM
Function Rooms. Presenters will be Poster Session 1
given their poster board assignments
and mounting materials at the Friday, November 8
booth. Presenters can mount their 01:30 PM – 02:30 PM
posters starting November 6, 3 Poster Session 2
PM. All posters must be mounted
before the Opening of the Exhibits 05:00 PM – 07:00 PM
on November 7, 9 AM. Conference Poster Session 3
organizers will be available to assist
the presenters. Saturday, November 9
10:00 AM – 11:00 AM
The presenter will be responsible Visit to Posters
for mounting and dismounting the
poster to and from the assigned 02:00 PM – 03:00 PM
board. All posters must be taken Removal of posters
down by November 9, 3pm.
39
General Information
Language Business and Banking Hours Electricity
Official Languages: Filipino and Banks are open from 9:00AM The standard electricity is 220V
English to 3:00PM, Monday to Friday with a frequency of 60Hz. Plugs are
with automated teller machines flat blade 2-pin type. Most hotels
Filipino is the national language. (ATM) available 24 hours. Business provide 110V outlets.
English is also widely spoken and establishments, such as malls and
extensively used in most business supermarkets, usually operate from Liability Disclaimer
establishments. 10:00AM to 9:00PM daily.
The Local Organizing Committee
Currency Credit Cards shall not be liable for personal
accidents and injuries nor for loss or
The local currency is the Philippine Major credit cards such Visa, damage to personal belongings of
Peso (₱). MasterCard, American Express, and the delegates and/or accompanying
Diners Club are accepted in key persons.
Coins are in 1, 5, 10, 25 centavos, ₱1, business establishments.
₱5, ₱10, while banknotes are in ₱20, Insurance
₱50, ₱100, ₱200, ₱500, ₱1000. Local Climate
Currency converter site: http://www. Delegates are advised to take their
xe.com/currency converter Makati’s weather is relatively own insurance for travel, personal
moderate, with its coolest months property and health.
Visa from December to February and
its hottest from March to May. The
Nationals from countries listed temperature ranges from 23º C to Social Program
below who are traveling to the 31º C.
Philippines for business and tourism Opening Ceremonies
purposes are allowed to enter the Local Time November 7, 2019
Philippines without visas for a stay Thursday 08:30 AM – 09:30 AM
not exceeding thirty (30) days, Local Philippine time is Greenwich
provided they hold valid tickets meridian time plus 8 hours, with no Fellowship Night
for their return journey to port of daylight savings time. November 8, 2019
origin or next port of destination and Friday 07:00 PM – 09:00 PM
their passports valid for a period of Dialing Codes
at least six (6) months beyond the Closing Ceremonies
contemplated period of stay. The country code for the Philippines November 9, 2019
is +63, while for Metro Manila the Saturday 01:00 PM – 01:30 PM
For a list of countries that do not area code is +632.
require a visa prior to entry in the
Philippines, you can visit the foreign
affairs website at https://www.dfa.gov.
ph/list-of-countries-for-21-day-visa.
40
Program Book
Keynote Plenary Speaker
Mary-Claire King (USA)

American Cancer Society Professor,
Department of Medicine and the Department of Genomics
University of Washington
Mary-Claire King, PhD, is an American Cancer Society professor in the Department of Medicine
and the Department of Genome Sciences at the University of Washington in Seattle, Washington.
She was the first to show that breast cancer is inherited in some families, as the result of mutations
in the gene that she named BRCA1. In addition to inherited breast and ovarian cancer, her research
interests include the genetic bases of schizophrenia, the genetic causes of congenital disorders in
children, and human genetic diversity and evolution. She pioneered the use of DNA sequencing for
human rights investigations, developing the approach of sequencing mitochondrial DNA preserved
in human remains, then applying this method to the identification of kidnapped children in Argentina
and subsequently to cases of human rights violations on six continents.
Dr. King grew up in Chicago. She received her BA cum laude in Mathematics from Carleton College
in Northfield, Minnesota; her PhD in Genetics from the University of California at Berkeley; and
her postdoctoral training at UC San Francisco. Her PhD dissertation with Allan Wilson was the
demonstration that protein-coding sequences of humans and chimpanzees are 99% identical. She
was Professor at UC Berkeley from 1976-1995 and at the University of Washington in Seattle since
1995.
Dr. King has served on multiple councils and study sections of the N.I.H. and the U.S. National
Academy of Sciences. She was consultant to the Commission on the Disappearance of Persons of
the Republic of Argentina and carried out DNA identifications for the United Nations War Crimes
Tribunals. She is past president of the American Society of Human Genetics and a past member of
the Council of the National Academy of Sciences.
In addition to the National Academy of Sciences, Dr. King has been elected to the American
Academy of Arts and Sciences, the National Academy of Medicine (formerly IOM), the American
Philosophical Society, and as a foreign member of the French Academy of Sciences. She has received
19 honorary doctoral degrees, from Harvard, Yale, Columbia, Princeton, Brown, Rockefeller, Leuven
(Belgium), Tel Aviv (Israel), and Ben Gurion (Israel) Universities; the University of Michigan; the State
University of New York; Rensselaer Polytechnic Institute; Hong Kong University; the University of
British Columbia; and Carleton, Smith, Bard, Dartmouth and Williams Colleges. Her awards include
the Gruber Foundation Prize in Genetics, the Dan David Prize, the Shaw Prize, the Lasker Foundation
Special Achievement Award for Medical Research, and the United States National Medal of Science.
41
Plenary Session Speakers

Chair of Genomic Medicine, Department of Pediatrics
University of Melbourne
John Christodoulou is the Chair of Genomic Medicine, Department of

Paediatrics, University of Melbourne, the Co-Leader of the Brain and
Mitochondrial Research Group, and Director of the Genetics Research
Theme, at the Murdoch Children’s Research Institute in Melbourne,
Australia. He graduated from the University of Sydney, and has formal
qualifications in paediatrics, medical genetics and genetic pathology.
His research interests include Rett syndrome and mitochondrial disorders, and he has a major
research interest in the application of next generation sequencing (NGS) technologies in rare genetic
disorders. He is the Co-Lead of the Australian Genomics Health Alliance, focusing on bringing NGS
diagnostics into mainstream clinical practice in Australia.
John is a former Past President of the Human Genetics Society of Australasia. In 2010 he became a
Member of the General Division of the Order of Australia (AM) and in 2017 became a Fellow of the
Australian Academy of Health & Medical Sciences.
Martin Hibberd (UK)

Professor, Emerging Infectious Diseases
London School of Hygiene and Tropical Medicine
Dr Martin Hibberd BSc(Hons) PhD is Professor of Emerging Infectious

Diseases at the London School of Hygiene and Tropical Medicine
and has adjunct positions at the University of the Philippines Manila,
Institute of Human Genetics, National Institutes of Health and the
Genome Institute of Singapore (where he was previously associate
director from 2003 to 2016). He also has visiting positions at the Philippine
Genome Centre and the National University of Singapore.
He graduated from Brunel University in 1985 in Applied Biology and received his Doctorate from
King’s College, London in 1994. He has a broad scientific background spanning both microbial and
human determinants of infectious and inflammatory diseases. His current research interests utilize
genomic applications to cover both pathogen and host aspects of infectious disease. He has over 190
publications in journals, with an impact factor averaging 9, with more than 14,000 citations in total
and an h-index of 60.
42
Program Book
Li Jin (China)
Vice President
Fudan University
Dr. Li Jin is the Vice President of Fudan University and Director

of Human Phenome Institute Fudan University. He systematically
investigated the genetic diversity of human population, including
genetic structure, population differentiation, migration route,
population mixing and environmental adaptation of East Asians. He also
studied the complex evolutionary relationship among gene-phenotype-
environment and the evolutionary mechanisms underlying the human phenome.
He received his doctoral degree in genetics from the University of Texas and is an academician of
the Chinese Academy of Sciences. He is an external member of Max-Planck Society and served as a
board member of Human Genome Organization (HUGO). He is a co-organizer of the Pan-Asian SNP
Program, a co-founder and board member of International Human Phenome Consortium (IHPC), and
a co-founder of CAS-MPG Partner Institute of Computational Biology, National Center of Human
Genome at Shanghai, and Fudan Taizhou Institute of Health Sciences.
He has been awarded the Chen Award for Distinguished Academic Achievement by HUGO, the
Ho Leung Ho Lee Foundation Award for Science and Technology Achievement, Second Prize for
National Natural Science Award (twice) among others. He serves as editorial board member for nine
international academic journals, and he is the Vice President of the Chinese Anthropological Society
and Genetics Society of China.
Charles Lee (South Korea)

President
Human Genome Organization
Dr. Lee is responsible for the scientific direction and coordination

of The Jackson Laboratory (JAX) for Genomic Medicine. He joined
JAX Genomic Medicine from Harvard Medical School and Brigham
and Women’s Hospital. He is best known for his discovery that copy
number variation - a state in which cells have an abnormal number of DNA
sections, sometimes associated with susceptibility or resistance to disease - is
widespread and significant in the human genome. This discovery, and his subsequent research, has
provided tools that clinicians use to help them make accurate diagnoses for hundreds of thousands
of genetic tests every year on conditions such as autism, birth defects and cancer. Throughout
his career, Dr. Lee has received numerous accolades and awards for his research into the human
genome, including an Award from the American Association for Cancer Research and the 2008
Ho-Am Prize in Medicine. He is an elected fellow of the American Association for the Advancement
of Science (AAAS), a 2014 Thompson Reuters Citation Laureate and is currently president of the
Human Genome Organization (HUGO). In addition to his responsibilities at JAX Genomic Medicine,
Dr. Lee is a distinguished professor at EWHA Womans University in Seoul, South Korea and an
adjunct professor at Xi’An Jiaotong University, Xi’An, China.
43
Edison Liu (Singapore)

President and CEO
The Jackson Laboratory
Dr. Edison T. Liu is the President and CEO of The Jackson Laboratory.
Previously, he was the Founding Executive Director of the Genome
Institute of Singapore, President of the Human Genome Organization,
Chairman of the Health Sciences Authority (FDA equivalent) of
Singapore; and was Scientific Director of the National Cancer
Institute’s Division of Clinical Sciences, where he led intramural clinical
translational programs. His research focuses on the genomics of human breast cancer, and on
understanding the systems logic of cancer using breast cancer as the model system. He has published
over 300 articles and books.
Dr. Liu has received numerous awards, including the AACR Rosenthal Award and the Brinker
International Award, both for breast cancer research; the Public Service Medal from Singapore
for his contributions to resolving the SARS crisis; and the Chen Award for Distinguished Academic
Achievement in Human Genetics. He was elected to the American Society of Clinical Investigation,
as a foreign member of the European Molecular Biology Organization, and as a Fellow of the
American Association for the Advancement of Science (AAAS).
Kelly Ormond (USA)

Professor, Department of Genetics and Stanford Center for Biomedical Ethics
Stanford University
Kelly Ormond is a Professor in the Department of Genetics and

Stanford Center for Biomedical Ethics at Stanford University and a
licensed genetic counselor. She received her Master of Science in
genetic counseling from Northwestern University and a post-doctoral
fellowship certificate in Clinical Medical Ethics at the University of
Chicago in 2001. Since 2007, she has served as the Inaugural Program
Director for Stanford’s MS in Genetic Counseling. In the past several years, she has seen patients
for adult neurogenetics indications (primarily dementia) and for personalized genome testing pre and
post counseling in research and clinical settings and serves as a member and consultant for Stanford
Hospital’s ethics committee. Her research interests focus on the impact of genetics on perceptions of
disabilities, ethical issues including informed consent and return of results, the incorporation of new
technologies into clinical practice, and the general integration of genetics into primary care.
44
Program Book
Bruno Reversade (Singapore)

Research Director
Agency for Science, Technology and Research (A*STAR) Singapore
Bruno is a developmental biologist and human geneticist. His team

studies monogenic, fully penetrant and unique genetic traits as a means
to understand complex and common diseases. Combining the power
of Mendelian genetics, patient-derived organoids and animal modeling
in zebrafish, Xenopus and mice, his team has resolved various human
disorders affecting embryogenesis, metabolism, ageing, cognition
and familial cancers. Some of these discoveries have been licensed and are being developed
for therapeutic purposes. Bruno is a Research Director at A*STAR in Singapore, a Fellow of the
Branco Weiss (Switzerland) and National Research (Singapore) Foundations, the first EMBO Young
Investigator based outside Europe, and a distinguished Professor of Genetics at KOÇ University
(Turkey) and Amsterdam UMC (Netherlands).
Danilo Tagle (USA)

Associate Director for Special Initiatives
National Center for Advancing Translational Sciences
National Institutes of Health, USA
Danilo Tagle is the Associate Director for Special Initiatives at NCATS.

He recently served as acting deputy director of NCATS. He was
involved in the highly collaborative effort toward the positional cloning
of genes for Huntington’s disease, ataxia-telangiectasia and Niemann-
Pick disease type C. He has served on numerous committees and advisory
boards, such as The Collaborative Center for X-linked Dystonia-Parkinsonism, and the editorial
boards of the journals Gene and the International Journal of Biotechnology. He obtained his Ph.D.
in molecular biology and genetics from Wayne State University School of Medicine in 1990, and was
an NIH National Research Service Award postdoctoral fellow in human genetics in the laboratory of
Francis S. Collins, M.D., Ph.D. at the University of Michigan. Amongst his many honors and awards are
the 2019 Roscoe O. Brady Award for Innovation and Accomplishment, 2019 NIH Director’s Award, and
the 2019 Henry Heimlich Award for Innovative Medicine. He has authored more than 150 scientific
publications.
45
Simultaneous Symposium Speakers
Zilfalil Bin Alwi (Malaysia)
Professor Dr Zilfalil Bin Alwi is a Senior Consultant Pediatrician & Clinical Geneticist
at Hospital Universiti Sains Malaysia (USM), Kota Bharu, Kelantan. He received his
specialist training in Pediatrics from the same University and obtained his PhD in
Pharmacogenetics at University of Aston, United Kingdom. His research interests
include population genomics (genetic diversity of the Malay ethnic group) and genome
wide studies on diseases common to the local population. Prof Zilfalil is the Founder and Head of the Malaysian
Node of the Human Variome Project (MyHVP). He is a member of the Board of Directors of Human Variome
Project (HVP) International and is the Joint Chairman for Global Globin 2020 Challenge (GG2020). He served
as the Director of USM Human Genome Center from 2005 to 2009. Prof Zilfalil is the Chief Editor of several
journals including the Malaysian Journal of Pediatrics and Child Health and GENETIK, the official bulletin of
the Genetics Society of Malaysia. He is a council member of the College of Pediatrics, Academy of Medicine
of Malaysia and fellow of this Academy. He is also the founding president of the Malaysian Society of Human
Genetics.
Ina Amarillo (USA)
Dr. Ina Amarillo is Associate Professor of Pathology and Immunology and Associate
Molecular Director of Cytogenetics and Molecular Pathology Lab of the Division of
Laboratory and Genomic Medicine at Washington University School of Medicine in St
Louis (WUSM). She earned her undergraduate and Master’s degrees in the Philippines
(plant and human cytogenetics research, respectively), and PhD from Florida State
University (plant molecular cytogenetics research). She extended her postdoctoral
training in molecular biology (NYU), human cytogenetics (Columbia), clinical cytogenetics (UCLA) and clinical
molecular genetics (WUSM) and joined WUSM in 2013. She is ABMGG board-certified in Clinical Cytogenetics
and board-eligible in Clinical Molecular Genetics. Her clinical diagnostic expertise role involves genetics and
genomics testing of cancer and non-cancer (constitutional) patient cases at various resolutions (karyotype,
FISH, CMA, sequencing). Dr. Amarillo is also involved in teaching graduate and medical students, residents
and fellows from various disciplines. Her research interests include genetics and genomics of cancer and
constitutional disorders. She is also heavily involved in research, education and advocacy of differences of sex
development (DSD/intersex) and gender-expansive and transgender (GET) populations.
George Anene-Nzelu (Singapore)
Dr. George Anene-Nzelu is a Senior Research Fellow at the Cardiovascular Research

Institute, Department of Medicine, National University of Singapore (NUS). He
completed his medical degree in Havana Cuba and his PhD from the National University
of Singapore. He works with Prof Roger Foo in the lab of Heart failure epigenomics and
molecular epigenetics. His research focuses on understanding the role of 3D chromatin
organization in heart failure particularly through enhancer-promoter interactions. The
Foo lab was the first to publish an epigenomic map of the failing human heart in 2012. Recently, his lab has
found a long noncoding RNA, called Singheart, which regulates key cardiac gene expression. The lab is now
deep diving into the epigenome of heart failure, using advanced technology such as single cell transcriptomics
and Crispr-genome editing to explore frontiers, with continuing aspirations to discover novel avenues for
therapies or biomarkers. Roger is also a strong advocate for the clinical application of genomics and leads the
BMRC Rare Disease research programme, SUREkids. SUREkids aims to develop a clinical pipeline for whole
exome sequencing for babies in Singapore.
46
Program Book
Breana Cham (Singapore)
Ms. Breana Cham is a Principal Genetic Counsellor with the Genetics Service at the KK
Women’s and Children’s Hospital. She graduated from the University of Melbourne in
2007 with a Master of Health Sciences (Genetic Counselling). She is the first formally
trained genetic counsellor in Singapore and has been in clinical practice since 2007.
Her main areas of interest include the genetic basis of rare disease, metabolic genetics,
cardiogenetics and genetic counselling practice in the genomics era. Through her
clinical work, she has counselled many individuals and their family members to facilitate understanding of
genetic conditions and decision-making regarding genetic testing in the light of a positive family history. Breana
is also actively involved in genetics education for healthcare professionals, advocating for greater professional
recognition of the genetic counselling profession, appropriate use of genetic technologies and equipping the
next generation of genetics professionals.
Ping Chen (China)
Professor Ping Chen is Vice Director of Thalassemia Research Institute and Life
Sciences Institute, Guangxi Medical University, Director of National Key Clinical
Department of Endemic Diseases, the First Affiliated Hospital, Guangxi Medical
University and Director of Guangxi Key Laboratory of Thalassemia Research. She
received her Doctor of Medicine from Sun Yat-Sen Medical University, and PhD from
Guangxi Medical University. She was further trained at the Thalassemia Research Center of Mahidol University,
Thailand, and the First Department of Medicine, University of Athens School of Medicine, Greece. Her unit is
the center for prevention and treatment of thalassemia. Her research interests are molecular diagnosis and
prenatal diagnosis. She has received many awards including National Song Qing Ling Pediatrics Medical Award,
The First Award of Guangxi Scientific and Technological Progress.
Dr. Yin-Hsiu Chien is Clinical Professor at the Department of Pediatrics at the National
Taiwan University in Taipei, Taiwan, and Attending Physician of the Department of
Medical Genetics and Pediatrics at the National Taiwan University Hospital. She
graduated from Chang-Gung Medical School, undertook pediatric residency training
at the National Taiwan University Hospital, and obtained her PhD from the National
Taiwan University. Dr Chien has made diverse contributions in the field of inborn errors
of metabolism and immunodeficiency, publishing over 50 original research articles in the last 5 years. She is
Director of the Newborn Screening Center at the National Taiwan University Hospital, which routinely screens
around one-third of newborns in Taiwan. Her team, led by Dr Wuh-Liang Hwu, is devoted to the diagnosis and
treatment of lysosomal storage diseases, neurotransmitters deficiency, and neuromuscular disorders. Dr Chien’s
current work focuses on early diagnosis and improvement of treatment for Pompe Disease, AADC Deficiency,
Spinal Muscular Atrophy, and other Lysosomal Storage Diseases.
Brian Chung (Hong Kong)
Dr. Brian Chung is a Clinical Geneticist at Queen Mary Hospital and Duchess of Kent
Children’s Hospital in Hong Kong and HKU-SZ Hospital in Shenzhen, China. He is an
Associate Professor of Pediatrics & Adolescent Medicine at the Centre for Genomic
Sciences, LKS Faculty of Medicine, University of Hong Kong. His research is focused on
the clinical applications of whole genome technologies and the study of rare genetic
diseases. He is currently the Secretary of the Asia Pacific Society of Human Genetics.
47
Peter Coleman
Dr. Coleman is Senior Segment Marketing Manager Genetic Health, Illumina Asia
Pacific Japan. After completing his Bachelor of Applied Biology, Peter spent three
years working in a bovine cloning and embryology laboratory before moving into
human embryology at the Melbourne IVF as an embryologist. He transferred from
the Embryology Laboratory to the Genetics Laboratory, and in the years that followed
became the manager of the Pre-Implantation Genetics Laboratory. For the last 3 years
Dr. Coleman has worked at Illumina as Segment Marketing Manager for Reproductive Health and Genetic
Disease Testing covering Asia Pacific Japan.
Eva Maria Cutiongco-de la Paz (Philippines)
Dr. Eva Maria C. Cutiongco-de la Paz is Professor of Pediatrics and Genetics and is
the current Executive Director of the National Institutes of Health, University of the
Philippines Manila. She also heads the Section of Genetics, Department of Pediatrics,
PGH. She finished her Doctor of Medicine from the UP College of Medicine and
completed Pediatrics at the Philippine General Hospital. She had her research
fellowship in Molecular Genetics at the International Center for Medical Research
at the Kobe University Graduate School of Medicine in Japan and took her subspecialty training in Clinical
Genetics at The Hospital for Sick Children, University of Toronto, Canada. Dr Cutiongco-de la Paz is the
current President of the Asia Pacific Society of Human Genetics and a council member of the Human Genome
Organization (HUGO). Her research interests include genetics of monogenic and complex genetic conditions in
the Filipino population such as birth defects, cardiovascular disease, cancer and diabetes mellitus.
Dr. Leslie Michelle M. Dalmacio is a Professor of Biochemistry and Molecular Biology at

the University of the Philippines Manila. She is also the UP Manila Assistant to the Vice
Chancellor for Academic Affairs and Coordinator of the MD-PhD (Molecular Medicine)
program of the UP College of Medicine. She has a Master of Science degree in
Biochemistry and a PhD in Molecular Biology and Biotechnology (minor in Microbiology)
from the University of the Philippines. Dr. Dalmacio is also a Diplomate of the Philippine
Academy of Microbiology (PAM). She had research fellowships on microbial diversity at the Marine Biological
Laboratory in Woods Hole, Massachusetts and at Michigan State University, USA, and on infectious diseases
at Novartis Pharma through the Next Generation Scientist Program. Her researches and publications deal with
viruses, the microbiome, probiotics, drug discovery, and immunoglobulin Y diagnostics. She was awarded as one
of the Outstanding Young Scientists of the Philippine National Academy of Science and Technology (NAST) in
2012 for her work on hepatitis viruses, probiotics, and the microbiome.
Frederick Delfin (Philippines)
Mr. Delfin has been with the DNA Analysis Laboratory, Natural Sciences Research
Institute (NSRI), University of the Philippines Diliman (UPD) for over 20 years. Mr. Delfin’s
BSc Biology degree was from the University of the Philippines Baguio and his MSc degree
from the Molecular Biology and Biotechnology Program, National Institute of Molecular
Biology and Biotechnology, University of the Philippines Diliman. Mr. Delfin’s doctoral
fellowship training was at the Max Planck Institute for Evolutionary Anthropology,
Leipzig, Germany, through the International Max Planck Research School for Human Origins. For the formalities
of the doctorate programme, Mr. Delfin is affiliated with Leiden University Medical Center, the Netherlands. Mr.
Delfin’s early research focus was primarily on forensic genetics. Recently, Mr. Delfin focuses on human (Filipino)
population genetics, evolutionary genetics and molecular anthropology. Mr. Delfin is the Program Leader of a
Filipino Genomes Research Program at the DNA Analysis Laboratory NSRI-UPD.
48
Program Book
Aloysius Domingo (USA)
Dr. Aloysius Domingo is a clinician-scientist with a special interest on the molecular genetic
mechanisms surrounding neurologic movement disorders, including X-linked Dystonia
Parkinsonism (XDP). He graduated as an MD from the University of the Philippines Manila
and trained at the Philippine General Hospital. He then pursued graduate studies leading to a
PhD in Molecular Life Sciences at the Graduate School of the University of Lübeck and at the
Institute of Neurogenetics, through a scholarship for young academics from the German Academic Exchange Service.
His work on the genetic mechanisms surrounding XDP received the Oppenheim Prize for Dystonia, awarded by the
German Dystonia Foundation, and the Mahlon deLong Young Investigator Award from the Dystonia Medical Research
Foundation. He is currently a postdoctoral research fellow at the Center for Genomic Medicine and an investigator for
the Collaborative Center for X-linked Dystonia-Parkinsonism at the Massachusetts General Hospital, in Boston, USA.
Dr. Vu, Chi Dung is the Director of the Center for Rare Disease and Newborn Screening,
Vietnam National Children’s Hospital which is one of the best pediatric hospitals in
Vietnam. He has extensive clinical experience in medical genetics, inherited metabolic
disease and molecular endocrinology. He trained at the Hospital Pediatrics of St.
Anthony, Catholic University of Lille, France and worked as a research fellow at the
Department of Pediatrics, Saint Louis University, USA and as a fellow at Royal Children’s
Hospital, Melbourne, Australia. He has received several awards including the Pfizer Overseas Fellowship, Asian
Investigator Award in Japan, ICIEM award in USA and Award for Excellent Study in Korea.
Richard Ebstein (Israel)
Professor Richard P. Ebstein is currently a Professor in the China Center for Behavioral
Economics and Finance, Southwestern University of Finance and Economics (SWUFE),
Chengdu, China. He received his M.S. and Ph.D. at Yale University in Biology. He trained
in Neurochemistry with Menek Goldstein at NYU. He was a Professor in the Psychology
Department at the National University of Singapore and a Professor (now Emeritus)
in the Psychology Department at the Hebrew University in Jerusalem. His research
revolves around human behavior genetics, with the overarching goal of providing molecular insights into the role
of genes as a partial contributor to all facets of human behavior. Major research areas include neuroeconomics,
the genetics of social behavior, personality genetics, ageing and autism. He is currently a member of the China
Center for Behavioral Economics (SWUFE), an interdisciplinary team which aims to bring together genomics,
neuroscience, and behavioral and experimental economics to seek a deeper understanding of decision making
at the neural and molecular levels. He has published over 400 peer reviewed articles. The total citations for his
published papers stand at 27,645 and he has an overall H-index of 88 (i10-index 323).
Dr. Supachai Ekwattanakit, PhD, MD is an adult hematologist working at Thalassemia Center,

Faculty of Medicine Siriraj Hospital, Mahidol University in Bangkok, Thailand. Dr. Supachai
received his PhD in Immunology from Mahidol University in 2010, under The Royal Golden
Jubilee Ph.D. Program from The Thailand Research Fund. During his training, he did research
on epigenetic regulation of globin gene expression at MRC Molecular Haematology Unit,
Weatherall Institute of Molecular Medicine, University of Oxford, UK. Later on, he finished
his medical degree (1st honors) from Faculty of Medicine Siriraj Hospital, Mahidol University in 2012 and subsequently
completed hematology training at Siriraj Hospital. He worked at Division of Hematology, Department of Medicine,
Faculty of Medicine Siriraj Hospital in 2015 before joining Thalassemia Center in 2018. Dr. Supachai’s research
interests include hemolytic anemia including thalassemia syndrome and long-term complications in adult patients. He
is currently a member and the deputy editor of Thalassemia Foundation of Thailand.
49
Sultana Faradz (Indonesia)
Dr. Sultana M. H. Faradz, is a Professor of Medical Genetics and Director of Center for
Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia.
She has been trained in Medical Genetics in Japan, Australia, the Netherlands and
Canada. She obtained her PhD on Medical Genetics at the University of New South
Wales, Sydney Australia, during which she did her course on Clinical Genetics at Sydney
Children Hospital. She initiated the MSc program on Genetic Counseling in 2006. Her
prominent research is on Fragile X syndrome in collaboration with MIND Institute UC Davis USA and DSD in
collaboration with Murdoch Children Research Institute/ University of Melbourne Australia.
Dr. Suthat Fuchareon is Professor Emeritus at the Institute of Molecular Biosciences,

and Director of the Thalassemia Research Center, Mahidol University, Nakornpathom,
Thailand. Dr. Fuchareon is internationally recognized for his work on thalassemia in
Thailand and Southeast Asia. His scientific interests encompass the spectrum of
basic, translational, clinical and epidemiological research. Work from the Thalassemia
Research Center at Mahidol University has set the standard for defining the molecular
genetics, genomics, and genotypic/phenotypic correlations of thalassemic syndromes. His many publications
include clinical trials on the use of inducers of fetal hemoglobin and iron chelation, the use of MRI imaging for
assessment of iron overload, as well as landmark epidemiologic studies defining the genetic diversity and public
health burden of these diseases.
Reynaldo Garcia (Philippines)
Dr. Reynaldo Garcia is a Professor of Molecular Biology and Biotechnology at the

University of the Philippines Diliman. He obtained his PhD in Molecular Biology from
the Australian National University and his life science-MBA (MPhil in Bioscience
Enterprise) from the University of Cambridge in England. He took up postdoctoral
fellowships in France (Hopital de la Pitie-Salpetriere in Paris), New Zealand (University
of Otago Medical School), the United States (Case Western Reserve University School
of Medicine), and England (University College London), before being appointed Senior Scientist at Cancer
Research UK’s Beatson Institute in Scotland. Dr. Garcia moved back to the Philippines in 2010. Apart from
teaching undergraduate and graduate courses, Dr. Garcia runs the multi-awarded Disease Molecular Biology
and Epigenetics Laboratory at the National Institute of Molecular Biology and Biotechnology. His laboratory
also runs a service unit providing an extensive suite of cell-based orthogonal assays and high-content imaging
for drug discovery.
Christian Gilissen (Netherlands)
Dr. Christian Gilissen obtained his PhD in 2012 at the department of Human genetics
of the Radboud University Medical Center on the topic of “Disease gene identification
through Next Generation Sequencing.” In 2015 he started his own research group
on genome bioinformatics and currently holds a position as an Associate Professor,
Department of Human Genetics at the Radboud University Medical Center in Nijmegen.
In addition, he holds a part-time position as the head of bioinformatics within the
genome diagnostics division. His research focuses on development and application of bioinformatics methods
to identify the genetic causes of intellectual disabilities and on understanding the mutational mechanisms
behind de novo mutations in humans. His work was rewarded with several prizes from the Dutch and European
society of human genetics.
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Yoshihide Hayashizaki (Japan)
Dr. Yoshihide Hayashizaki obtained his MD and PhD from Osaka University Medical
School in 1982 and joined RIKEN in 1992. While conducting basic research, he worked
for approximately ten years as a physician. In 1995, he started one of the first original
omics program in Japan, and more than 20 years since then, he has led OMICs
sciences. In 2000, he launched FANTOM (Functional Annotation of the Mammalian
Genome), a large international research consortium and his group generated large-scale
transcriptome data including promotome and enhancerome analysis and transcriptional networks. Currently,
the consortium involves over 500 researchers from 20 different nations. In 2013, he started RIKEN Preventive
Medicine and Diagnosis Innovation Program (PMI). The mission of PMI is to lead the transformation of medical
care to a new era enhanced with omics science, bringing greater personalized medicine and a higher standard
of care. Dr. Hayashizaki is the Director of the Preventive Medicine and Diagnosis Innovation Program, RIKEN
Cluster for Science and Technology Hub.
Carolyn Hoppe (USA)
Dr. Carolyn Hoppe recently transitioned from an academic career in Pediatric

Hematology-Oncology to join Global Blood Therapeutics. In her role as Medical
Director, she is pursuing her interests in conducting clinical trials focused on the
development of new therapies for sickle cell disease. During her 23-year tenure at
UCSF Benioff Children’s Hospital Oakland, Dr. Hoppe led clinical research for sickle
cell disease. As the director of the Hemoglobinopathy Reference Laboratory, she established a nationally
recognized resource for the diagnosis of hemoglobin disorders, providing confirmatory testing for the
California State Newborn Screening program, the National Marrow Donor Program, cord blood programs and
clinical referrals from across the country and globally. Dr. Hoppe drafted the American College of Medical
Genetics (ACMG) newborn screening reference sheets for primary care providers and co-chaired the
Clinical and Laboratory Standards Institute (CLSI) committee in writing the updated Newborn Screening for
Hemoglobinopathies document.
Felicitas Lacbawan (USA)
Dr. Felicitas L. Lacbawan is the Vice President and Executive Medical Director of
the Advanced Diagnostics - Genetics, Genomics, R&D and Bioinformatics at Quest
Diagnostics. She is board certified in Molecular Genetic Pathology (MGP), Clinical
Genetics, Anatomic Pathology, and Clinical Pathology. She served as a faculty member
in various medical institutions and was the Section Head of Molecular Pathology at
the Robert J Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic.
She held various clinical, research and academic leadership positions at the NHGRI-NIH, Children’s National
Medical Center, George Washington University School of Medicine and Health Sciences, SUNY-Downstate
College of Medicine, and the Lombardi Cancer Center, Georgetown University Medical Center. She was a
recipient of the Interagency Personnel Agreement between CNMC and NHGRI-NIH. She is a special volunteer
of the Undiagnosed Disease Program at NIH. Her research and scholarly work are on clinical molecular genetics
and molecular pathology, including neurologic, developmental, connective tissue and vascular disorders,
chromosomal anomalies, pharmacogenomics, cancer, laboratory proficiency, test verification, and GGTR-
UM. She served on expert panels in national and international meetings, committees and working groups of
professional societies, regulatory and government organizations and the healthcare industry including the CAP,
ACMGG, CDC, Roche Molecular Center of Excellence, CLSI, and NCI-NIH Think Tank.
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Lai Poh San (Singapore)
Professor Poh-San Lai heads the Human Molecular Genetics Lab of the Dept of
Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore
(NUS). Her main interests are in neuromuscular disorders, congenital diseases and
undiagnosed disorders. Her other interests are in behavior genetics and exploring
psychosocial, lifestyle and biological determinants related to various traits. She set up
the first laboratory in the country for molecular diagnosis in pediatric disorders such
as Duchenne muscular dystrophy, retinoblastoma, spinal muscular atrophy and was awarded the Singapore
National Youth Award for Science and Technology in 1998 for this work. She currently serves on a number of
international consortiums, advisory committees, editorial journal boards and societies. She is President of the
Biomedical Research & Experimental Therapeutics Society of Singapore, immediate Past President of Asia-
Pacific Society of Human Genetics, Deputy Chair of the NUS Institutional Biosafety Committee and co-Chair
of the Working Group on Gene Modifying Technologies. She has also served as Director of HUGO (Human
Genome Organization) and as member of the Scientific Advisory Board for health program at the Philippine
Genome Center.
Stephen Lam (Hong Kong)
Dr. Stephen Lam is a Fellow of Hong Kong College of Paediatricians, Fellow of Royal
College of Physicians (Edinburgh), and Fellow of Hong Kong Academy of Medicine.
He was the Consultant Clinical Geneticist, and Head of Clinical Genetic Service,
Department of Health, Hong Kong (1990-2015). He is an Honorary Professor of the
Faculty of Medicine in the Chinese University of Hong Kong since 2012. He was
the founding Chairman of the Hong Kong Society of Medical Genetics in 1987; Past
President of the Asia Pacific Society of Human Genetics (2011-12), and the Past President of the International
Federation of Human Genetic Societies (2012-14). He has published more than 100 articles and edited two
books. He serves as editor of several international journals. Since July 2016, he is the Director of Clinical
Genetics Service and Honorary Consultant in Clinical Genetics in the Hong Kong Sanatorium and Hospital in
Hong Kong.
Mercy Y. Laurino (USA)
Dr. Mercy Laurino is a licensed and board-certified Genetic Counselor. She received
her MS degree in genetic counseling from the University of Colorado Health Sciences
Center and her PhD in Public Health Genetics from the University of Washington
Institute for Public Health Genetics. In 2011, Dr. Laurino helped launch the genetic
counseling training program in the Philippines and continues to collaborate with
medical geneticists and genetic counselors in the Asia-Pacific region. Her clinical and
research interests include hereditary cancer predisposition syndromes, public health genetics, and the return
of research results. Dr. Laurino is a Clinical Assistant Professor at the University of the Philippines Manila –
Philippine General Hospital MS Genetic Counseling Program and manages the Seattle Cancer Care Alliance
Genetic Counseling Services and Cancer Prevention Programs. She was the recipient of the 2016 International
Leader award from the National Society of Genetic Counselors and founding president of the Professional
Society of Genetic Counselors in Asia.
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Dr. Hai Yang Law is Associate Professor and Deputy Director of National Thalassaemia
Registry (NTR) and Chief Scientific Officer and Laboratory Director of DNA Diagnostic
and Research Lab at the KK Women’s and Children’s Hospital, Singapore. She is also the
Senior Director, Research, Pediatric Academic Clinical Program, under SingHealth and
Duke NUS Graduate Medical School, Singapore. She received her D Phil degree from
Oxford University in Human Genetics. Having established the DNA Diagnostic Lab in 1992
to study the spectrum of mutations causing thalassemia in local population, her research interest remains to
be understanding the prevalence of thalassemia and related hemoglobinopathies and other common genetic
conditions in local population and developing diagnostic tests for these conditions.
Joy Lee (Australia)
Dr. Joy Yaplito-Lee obtained her Doctor of Medicine degree from the College of
Medicine, University of the Philippines Manila. She completed her pediatric residency
at the Department of Pediatrics, Philippine General Hospital. She undertook her
fellowship in Biochemical Genetics at The Children’s Hospital in Westmead, Sydney
and the Victorian Clinical Genetics Services, Murdoch Children’s Research Institute,
Melbourne, Australia. She first started her career in Metabolic Genetics at the Institute
of Human Genetics, National Institutes of Health Philippines. Currently, she is a Metabolic Consultant at the
Department of Metabolic Medicine, The Royal Children’s Hospital, Melbourne, Australia. She is a Fellow of the
Royal Australian College of Physicians, and a Clinical Senior Lecturer at the University of Melbourne.
Juliana Lee (Malaysia)
Ms. Lee is a Genetic Counselor certified by the Human Genetics Society of Australasia
(HGSA) and Licensed Counselor with the Malaysian Board of Counsellors. As a pioneer
genetic counselor in Malaysia since 2004, she has managed numerous cases that ranged
from pediatric genetics, reproductive genetics, inborn error metabolism, rare diseases
to hereditary cancer. Throughout her career, she has made significant contributions to
the development of genetic counseling practice in Malaysia and across Southeast Asia.
She is also the current Secretary of Genetic Counselling Society Malaysia (GCSM) and Vice-President of the
Professional Society of Genetic Counselors in Asia (PSGCA).
Kathleen Leppig (USA)
Dr. Kathleen Leppig is the Chief of Genetics Service at the Group Health Cooperative
in Seattle, Washington, USA. She is concurrently a Clinical Associate Professor at the
Department of Pathology, University Washington Seattle. She is board certified in
Clinical Genetics and Cytogenetics by the American Board of Medical Genetics and
a Fellow of the American Academy of Pediatrics and American College of Medical
Genetics. Dr. Leppig has published a number of articles in international refereed
journals and serves as peer reviewer for the American Journal of Medical Genetics and Genetics in Medicine.
53
Jingmei Li (Singapore)
Dr Jingmei Li is a Senior Research Scientist at the Genome Institute of Singapore. Her

passion is to use genetics and epidemiology to improve women’s health. Her current
projects focus on breast cancer prevention, detection, treatment and support. A
“genomic miner” would be a perfect term to describe Dr Jingmei Li’s early scientific
pursuits in human genetics. Comparing large groups of people with certain diseases
and people who do not, she identifies genetic markers that can predispose one to such
diseases. She is a recipient of numerous scientific awards including a UNESCO-L’Oréal International Fellowship,
a National Research Foundation Singapore Fellowship and a Singapore National Academy of Science Young
Scientist Award. She has spoken at events organized by TEDx, Asia-Europe Foundation, HSBC Women Leaders
Forum and Disney.
Yasuhiro Murakawa (Japan)
Systems biologist Yasuhiro Murakawa is the Team Leader of the RIKEN-IFOM Joint
Laboratory for Cancer Genomics. He graduated from Kyoto University School
of Medicine in 2008. He then worked as a medical doctor at the Department of
Hematology and Oncology in Kyoto University Hospital. Motivated to understand
complex biological systems in health and disease using the state-of-the-art technologies,
he moved to Berlin to join the Berlin Institute for Medical Systems Biology at the Max
Delbrueck Center for Molecular Medicine in Germany. He obtained his PhD from Free University of Berlin in
2014. He has been a principal investigator at RIKEN from 2015 and jointly affiliated to RIKEN (Japan) and IFOM
(Italy) from 2018. He studies gene regulatory network by developing original technologies including Native
Elongating Transcript Cap Analysis of Gene Expression (NET-CAGE), which allows for identification of active
enhancers at high-nucleotide resolution with high sensitivity.
Jose B. Nevado, Jr. (Philippines)
Dr. Nevado is a Research Professor of the Institute of Human Genetics, National

Institutes of Health-University of the Philippines Manila, and a Professor at the UP
College of Medicine. He completed his training as a medical doctor-internist and as a
PhD in molecular biology from the University of the Philippines, as well being a research
fellow in the National Heart, Lung and Blood Institute of the US National Institutes of
Health. At present, he is involved in researches that investigate the molecular aspect of
common medical diseases, such as cardiovascular diseases, diabetes mellitus, sepsis and leptospirosis. Focusing
on genomics and gene expression studies, his group hopes to arrive at mechanistic understanding of conditions,
and produce useful applications, such as diagnostics, prognostics, therapeutics and monitoring aids. As a
personal statement, he advocates translational studies, biomedical education, and the generation of intellectual
property portfolio that can impact the worldwide community.
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Dr. Padilla is Professor of Pediatrics at the College of Medicine and currently

Chancellor of the University of the Philippines Manila. She is the Founding Director
of the Institute of Human Genetics and the Newborn Screening Reference Center at
the National Institutes of Health. Recognizing her varied contributions to the academic
growth of genetics in the Philippines, she was conferred Academician of the National
Academy of Science and Technology. She is a pioneer in genetics in the Philippines and
the Asia Pacific region. She is responsible for setting up the clinical genetic services and the various genetic
laboratories now housed at the Institute of Human Genetics – National Institutes of Health and for setting up
the national newborn screening services in the Philippines. She is part of the pioneering group that established
the Asia Pacific Society for Human Genetics and served as president in 2008-2010. She is Council member of
the Human Genome Organization and country representative to the Inter-Academy Partnership for Health. She
has been a recipient of international and national awards. Dr Padilla has more than 120 publications. In the area
of policy making, she is responsible for the Newborn Screening Act of 2004 (Republic Act 9288) and the Rare
Disease Act (Republic Act 10747).
Dr. Gerard Pals studied biochemistry in Utrecht and got a PhD in genetics at the VU
University in Amsterdam (1986). He was professor in molecular genetics at the Wayne
State University and consulting scientist at Henry Ford Hospital (Detroit, Michigan,
USA). In 1989 he established the laboratory for DNA and protein diagnostics in the
AZVU University Hospital (now Amsterdam University Medical Center) and he was
Laboratory Director until 2007. This laboratory is the National and International
Reference Center for the Diagnostics of Inherited Diseases. From 2007 until his retirement in 2016, Dr. Pals was
head of the Center for Connective Tissue Research. He is still actively involved in research and supervision
of MSc and PhD students. His current research is focused on developing medication for rare diseases. In
Indonesia, he is presently a consultant for genetic test development at Prodia, Jakarta. Dr. Pals published more
than 300 peer-reviewed papers in international journals, with an H-index 57.
Ratna Dua Puri (India)
Dr. Ratna Dua Puri obtained her M.D. Pediatrics degree from Armed Forces Medical
College, Pune and D.M. Medical Genetics from Sanjay Gandhi Institute of Medical
Sciences, Lucknow. Presently, she is a Senior Consultant and Vice Chairperson at the
Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi. She received the
Dharam Vira Award of Excellence for Senior Officer in 2010, and “Young Investigators
Award” at the International Congress of Inborn Errors of Metabolism held in Tokyo,
Japan in 2006. Dr. Puri represented India for deliberations at the Joint World Health Organization and MOD
Meeting on Management of Birth Defects and Hemoglobin Disorders in Geneva in May 2006. She has multiple
publications and chapters to her credit and is involved in several research projects. She is a member of the
Editorial Board of the Indian Journal of Pediatrics, past Secretary of the Delhi Society for Prenatal Diagnosis
& Therapy (DESPAT), Treasurer of Society of Fetal Medicine, Joint Treasurer of the Indian Society of Inborn
Errors of Metabolism, and has been the Secretary of the Genetics sub specialty chapter of the Indian Academy
of Pediatrics. She is a member of the Task Force on Birth Defect Registry in India and Lysosomal Storage
Disorders task force.
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Benjamin Roa (USA)
Dr. Benjamin B. Roa is the Senior Vice President for Technology Development and
Senior Laboratory Director at Myriad Genetic Laboratories in Salt Lake City, Utah.
His professional interests include the development and delivery of molecular genetic
tests for clinical diagnostic, prognostic, and therapy selection applications with a
focus on oncology. Prior to joining Myriad Genetics he was an Assistant Professor in
the Department of Molecular and Human Genetics and the Lab Director of the DNA
Diagnostic Laboratory at Baylor College of Medicine in Houston, Texas. He obtained his BS Biology from the
University of the Philippines, his PhD in Molecular Biology and Biochemistry from Northwestern University,
and completed postdoctoral training at Baylor College of Medicine. He is board certified in Clinical Molecular
Genetics by the American Board of Medical Genetics and Genomics, and is a Fellow of the American College
of Medical Genetics. He has authored over 70 scientific publications.
Cynthia Saloma (Philippines)
Dr. Cynthia Palmes-Saloma is a Professor of Molecular Biology and Biotechnology at the

National Institute of Molecular Biology and Biotechnology (NIMBB) in the University
of the Philippines Diliman. She currently serves as the Excecutive Director of the
Philippine Genome Center, University of the Philippines System. Dr. Palmes-Saloma
received her Ph.D. in Physiology in 1998 and her MS in Medical Science in 1995 from
Osaka University, Japan. She was a Junior Research Fellow of the Japan Society for
the Promotion of Science (JSPS) while pursuing her PhD degree. She joined NIMBB in 1998 and started the
Neurobiology Research Group which has now evolved into the Laboratory of Molecular and Cell Biology
(LMCB). She served as past President of the Philippine Society for Biochemisty and Molecular Biology, the
Philippine Society for Cell Biology as well as the Outstanding Young Scientists’ Inc.-Philippine Academy of
Young Scientists. She started the PGC DNA Sequencing Core Laboratory in 2012 and was appointed as PGC
Executive Director in 2017.
Mark Seielstad (USA)
Dr. Mark Seielstad was educated at Stanford University, receiving Bachelor’s degrees
in Biological Sciences (Hons.) and Classical Studies in 1992; and a PhD in Biology from
Harvard University in 1998. Previously, Prof Seielstad served on the faculty of Harvard
University’s School of Public Health. Also, from 2002 – 2008, he led the Human
Genetics group at the Genome Institute of Singapore and served on the faculty of the
National University of Singapore. He is Professor of Laboratory Medicine, Epidemiology
and Biostatistics, and of Global Health Sciences, Institute for Human Genetics, University of California San
Francisco. Professor Seielstad’s research focuses on the identification of genetic variation contributing to
complex human diseases, such as Type 2 Diabetes and autoimmunity.
Toshihiko Shiroishi (Japan)
Dr. Toshihiko Shiroishi is a Professor of Mammalian Genetics Laboratory at the National

Institute of Genetics, Mishima, Japan since 1998. His research interest is in the genetic
control of pattern formation during mouse early embryogenesis. In particular, he is
working on the anteroposterior axis formation in limb development using many mutant
mice. His interest is also in regulation of Sonic hedgehog (Shh) gene expression by
chromosome dynamics of long-range enhancers, and biological role of enhancer
mutations on congenital malformation. Since April 2019, Dr. Shiroishi has been appointed as Director of RIKEN
BioResource Research Center (BRC), Tsukuba, Japan.
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David Sillence (Australia)
Dr. David Sillence is an Emeritus Professor in Genomic Medicine at the University of

Sydney and a consultant in diagnosis and management of Genetic Skeletal Dysplasias
including Osteogenesis Imperfecta throughout the lifespan. David wrote his doctorate
on genetic skeletal dysplasias and has collaborated extensively in the development
of molecular diagnostics and investigation. He is co-author of the Sillence-Kozlowski
skeletal dysplasia radiology collection. David has been a member of the International
Nomenclature Committee for Constitutional Disorders of the Skeleton since 1982 and co-author of many of
its reports including the first phenotype and genotype tabulation of genetic skeletal dysplasias. In addition he
has had an abiding interest in teaching, training and research as well as clinical services for people with genetic
skeletal dysplasias. He has been a pioneer in multidisciplinary care for patients with Genetic Skeletal Dysplasias
as well as in Genetic Medicine generally.
Damayanti Rusli Sjarif (Indonesia)
Dr. Damayanti Sjarif is a Pediatrician, specializing in pediatric nutrition, inborn errors of

metabolism, and clinical genetics. She graduated from Faculty of Medicine, Universitas
Indonesia in 1983 and completed her pediatric residency training in 1992. She then
pursued her PhD in Utrecht Universiteit, while being trained in clinical metabolic
disease in Wilhelmina Kinderziekenhuis Utrecht The Netherlands and medical genetics
in Utrecht Clinical Genetic Center. She is now the Chair of Human Genetic Research
Center in Indonesia Medical Education and Research Institute, Faculty of Medicine Universitas Indonesia. She
is also principal investigator in various genetic project related to rare diseases in Indonesia, while developing
genetic laboratories for Indonesia. She has also built a system while working with the Indonesian government to
provide easy access for orphan drugs and orphan food.
Herawati Sudoyo (Indonesia)
Dr. Herawati Sudoyo is the Deputy Director for Fundamental Research of the Eijkman
Institute for Molecular Biology in Jakarta, Indonesia. She is also the Chairperson for
Medical Commission of the Indonesian Academy of Sciences. She received a medical
degree from University of Indonesia and obtained her PhD in Biochemistry/Molecular
Biology from Monash University, Melbourne, Australia. She is Principal Investigator of
Human Genome Diversity and Disease. Her work on the Indonesian Genome Diversity
Project (IGDP) and its association with disease susceptibility contributed to our knowledge on population
structure, distribution of mutations underlie inherited disorders, history of our origin and also admixture of
different of ancestors genetic backgrounds. Herawati is also the Head of Forensic DNA Laboratory for human
and wildlife identification. Herawati is one of the founders of Asia Pacific Society of Human Genetics, and
also the founding member of the Indonesian Biorisk Association. She is involved on the development of the
Indonesian Code of Conduct on Biosecurity for Indonesia. She earned numerous awards for her contribution in
science in Indonesia, including Australian Alumni Award for Scientific Research and Innovation, Habibie Award
for Medical Science and Technology, Toray Award, Third World Academy of Sciences (TWAS) Award, and
others related to her effort to promote women in science.
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Thanyachai Sura (Thailand)
Dr. Thanyachai Sura is currently the President of Medical Genetics and Genomics
Association in Thailand and works at the Medical Genetics and Molecular Medicine
Unit at the Department of Medicine of the Ramathibodi Hospital, Mahidol University
in Bangkok, Thailand. He became a diplomate of the Thai Board of Internal Medicine,
Faculty of Medicine at the same institution in 1987. He received further training in
molecular medicine at the John Radcliffe Hospital in Headington, Oxford University,
England and received a certificate in Medical Genetics and Molecular Medicine from the Oxford University
in 1990. He became a member of the Royal College of Physicians in London in 1991. Dr. Sura’s main research
interest is in molecular medicine and genetics and he has published over 70 articles in national and
international peer-reviewed medical journals, including the Human Genetics, Science, Nature, Journal of
Clinical Neuromuscular Disease, Journal of Human Genetics, PLoS One and Journal of the Medical Association
of Thailand. His published research papers cover a range of topics, among which include molecular studies on
the enzyme paraoxonase, descriptive studies on fragile X syndrome at the Ramathibodi Hospital, and several
papers on clinical genetic diseases such as Duchenne muscular Dystrophy as well as Familial cancers and
Multiple Endocrine Neoplasia.
Yue Ying Tan (Singapore)
Ms. Yue Ying graduated from the National University of Singapore and has been with
Illumina since August 2012 where she joined us from The Institute of Molecular and
Cell Biology in Singapore, A*STAR. During that time, she has accumulated a long list of
achievements in both pre- and post-sales support of bioinformatics within Asia Pacific
Japan. Ms. Yue Ying shows values of her work through outcome, with several key
successful customer enablement projects across various applications including cancer
research, genetic disease research, metagenomics, mitochondrial analysis and viral pathogen detection to name
a few. She is passionate about driving customer success through Illumina informatics solutions scaling from
small targeted assays to human Whole Genome Sequencing and has been piloting a number of initiatives to
upskill our customers in the region. Ms. Yue Ying also leads the interactions with the sales channel partners in
the region on all things bioinformatics.
Michael Tee (Philippines)
Dr. Michael Tee is the current convener of the APLAR Special Interest Group in
Genetics. He is an Associate Professor of Physiology and Rheumatology at the
College of Medicine, University of the Philippines Manila where he also serves as
the Vice Chancellor for Planning and Development. He has a Master Degree in
Health Professions Education and a Master Degree in Business Administration from
the University of the Philippines. Dr. Tee and his research group has done genomic
researches in systemic lupus erythematosus, a nationwide project funded by the Department of Science and
Technology of the Republic of the Philippines. Their group is responsible for defining the normative value for
the determination of sarcopenia among Filipinos in 2016. His interest in ensuring access and equity in health
care delivery fuels his works on biosimilars and pharmacoeconomics. Currently, Dr. Tee is collaborating with
University of California Davis to develop an innovative strategy for early detection of diseases in humans,
animals and plant – a One Health Concept. Dr. Tee was among the 10 Abbvie Best Abstract awardees in the
18th Asia Pacific League of Associations for Rheumatology (APLAR) Congress in Shanghai.
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Dr. Therrell is an international newborn screening (NBS) consultant and Director of

the National Newborn Screening and Global Resource Center in Austin, Texas. He
has been active in NBS for over 45 years including, initiating and hosting the 1st U.S.
National NBS Symposium in 1981, supervising the largest NBS laboratory in the world
at the Texas Department of Health for 28+ years and was Professor of Pediatrics at the
University of Texas Health Science Center at San Antonio and Director, US National
NBS and Genetics Resource Center for more than thirteen years. Dr. Therrell is actively involved in providing
expert advice to NBS programs internationally. He has reviewed over 45 state NBS programs for the U.S.
Health Resources and Services Administration and has completed over 25 missions as an expert NBS project
reviewer for the International Atomic Energy Agency. He is a Founding Member and Past President of the
International Society for Neonatal Screening.
Meow-Keong Thong (Malaysia)
Dr THONG Meow-Keong is a Professor of Paediatrics and Consultant Clinical

Geneticist at the University of Malaya Medical Centre. He was a Fulbright scholar and
an Australasian board-certified Clinical Geneticist. He established the first Genetics
Clinic in 1995 at the Genetics & Metabolism Unit at the Department of Paediatrics,
Faculty of Medicine, University of Malaya. He was a Founding Member and Past
President of the Asia-Pacific Society of Human Genetics. He is the current President of
the College of Paediatrics, Academy of Medicine of Malaysia; Vice-President of the Medical Genetics Society
of Malaysia and Advisor to the Malaysian Rare Disorders Society. His current research interests included
rare diseases, undiagnosed genetic disorders and inborn errors of metabolism. He has published extensively
including 3 books and 15 book chapters, co-wrote 3 monographs and presented over 150 conference
proceedings. He had won research awards and worked with the Ministry of Health Malaysia and WHO in
developing a counseling module and management guidelines on inherited conditions, respectively.
Hans Van Bokhoven (Netherlands)
Dr. Hans van Bokhoven heads the Molecular Neurogenetics Unit, Human Genetics
Department, Radboudumc Nijmegen. His research aims to reveal the genetic
underpinnings and biological mechanisms underlying (neuro)developmental disorders
by using a multi-level strategy that combines clinical genetics, functional genomics
and molecular & cellular neurobiological approaches, such as the generation and
characterization of in vitro (keratinocytes, hiPSC-derived human neural cells) and in
vivo model organisms. He received his MSc in Agricultural Sciences (Engineer) and PhD in Molecular Biology
from Wageningen University, Netherlands. He is a Principal Investigator of Radboud Institute for Molecular Life
Sciences, Donders Centre for Neuroscience, and Radboudumc, Professor of Molecular Neurogenetics, and a
Member of Academia Europae. He has published 290 articles with >15,000 total citations and an H-index of 70.
He is the coordinator of large EU collaborative projects such as the Euro-MRX, GENCODYS, and IMPACT.
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Dr. Veronica Wiley is a Clinical Associate Professor and Director of the NSW Newborn
Screening Programme, NSW Australia. She is a Clinical Scientist with over 40 years of
experience in paediatric biochemistry especially screening, detection, diagnosis and
monitoring of inborn errors using various techniques that include immunoassay, mass
spectrometry, enzyme assays and various DNA variant analyses. She has particular
interests in data storage and tandem mass spectrometry. A/Prof Wiley is President of
the Australasian Society for Inborn Errors of Metabolism and immediate past President of the International
Society for Neonatal Screening (ISNS) and currently the Chair of the Program Development Committee. She
is an active member of several other professional societies including the AACB, HGSA and the RCPA; she has
been awarded fellowship of the HGSA and RCPA; is a member of committees for HGSA, ASIEM and ISNS. She
is requested to provide presentations on a large number of topics associated with newborn screening.
Shuhua Xu (China)
Dr. Shuhua Xu is Professor of Human Population Genetics and Principal Investigator

of Population Genomics Group at the CAS-MPG Partner Institute for Computational
Biology. He is currently holding the position of a Distinguished Professorship in Chinese
Academy of Sciences and a Distinguished Adjunct Professorship at Shanghai Tech
University. He received his PhD at Fudan University, China. The Population Genomics
Group led by Dr. Xu is using computational approaches and developing new methods
to dissect genetic architecture of human populations, quantitatively characterize their admixture features, and
reveal their migration history and adaptive divergence. Dr. Xu has authored many scientific papers published in
Science, Nature Genetics, PNAS, Genome Biology, American Journal of Human Genetics, Genome Research,
Molecular Biology and Evolution, etc. Dr. Xu serves as Editorial Board member of several international peer-
reviewed journals such as Hereditas, Human Genomics, Molecular Genetics and Genomics, Scientific Reports,
BMC Genetics (Section Editor).
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Chen Travel Awards

November 7-9, 2019
Best wishes for a successful meeting!

Alice and Yuan-Tsong Chen, Chenzyme Foundation
The Chenzyme Foundation is dedicated primarily to support medical research, education,

and patient care. The Chen Student Travel Award, funded with a generous donation from
Professor Yuan-Tsong Chen and Alice Chen through the Chenzyme Foundation, is given
in recognition to students and young scientists with outstanding research work at the
conference of the Asia Pacific Society of Human Genetics. A maximum of 10 awardees will
be chosen from abstract submitted for oral and poster presentation attaining appropriate
level of merit. In case of insufficient numbers of submission which attain appropriate level
of merit, the remaining awards will be used for the next conference. A monetary award of
US$500 will be given to each award recipient to assist towards his/her travel expenses in
attending the conference.
Eligibility
In order to be considered for the Chen Travel Awards, one must

yy Be registered to the 13th Asia Pacific Conference on Human Genetics;
yy Has an abstract for presentation (oral or poster); and
yy Commit to attend the awarding ceremony of the conference.
The awarding ceremony will be during the Closing Ceremonies on November 9, 2019.
61
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nucleic acid isolation, NGS library preparation, QC, and analysis;
encompassing all steps except sequencing. Designed to simplify
targeted NGS, PerkinElmer’s end-to-end workflow has been
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Stop by our booth learn how to simplify your NGS!
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1 | SAMPLE COLLECTION
7 | RESULT ANALYSIS
2 | DNA EXTRACTION
6 | SEQUENCING
3 | DNA QC
5 | LIBRARY QC
4 | LIBRARY PREP
Other workflows include:

• DNA-seq • mRNA-seq
• miRNA-seq • Combined mRNA/miRNA seq
66
Program Book
There’s nothing more personal

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Comprehensive solutions to change how disease will be

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Illumina technology is pioneering genetic disease research, helping to advance breakthroughs in genetic health.
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of one’s genetic health. We now have the ability to sequence at an unprecedented scale. Collectively, this will
give us a much deeper understanding of genetics than ever before. We will begin to truly unlock the power of
the genome.
Please attend the Illumina Sponsored Symposium on 8th November 2019

www.illumina.com
67
68
Program Book
69
70
Program Book
71
www.genqa.org
info@genqa.org
Collaboration between CEQAS and UK NEQAS Molecular Genetics

Members of consortium
Provider of External Quality Assessment (Proficiency Testing) for:
Variant Sample Handling:

Molecular Genetic Molecular
Classification and DNA extraction &
Disorders Pathology
Interpretation quantification
Technical:
Newborn Preimplantation Haematological
Next Generation
Screening Genetic Testing Neoplasms
Sequencing
Prenatal (including Individual Competency

Constitutional Clinical
Non-Invasive) Assessment
Postnatal Testing Genetics
Testing (G-TACT / Tissue-i)
**Come and visit us at the GenQA stand**

*Registration for all 2020 EQAs opens in September 2019*
Why choose GenQA?
>90 individual EQAs

>80 countries participate
End-to-end testing
(sample reception to genetic counselling)
ISO Accredited EQA provider
Extensive experience of working in clinical
diagnostic genetics laboratories New EQAs for 2020
GenQA is part of UK NEQAS
Our EQAs Disorders of Sexual Development

Based on real clinical cases Epilepsy Disorders
Validated samples Renal Disorders
Assessed by expert professionals Respiratory Disorders
Marking based on professional guidelines Osteogenesis Imperfecta
SCID newborn screening (TREC detection)
TP53 variant detection
CLL IGH mutation status
Somatic variant classification
NGS copy number variant (CNV)
Individual assessment for CNVs
For further details of all our EQAs go to

www.genqa.org/EQA
For further information email info@genqa.org
72
Program Book
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Department of Science and Technology

Philippine Council for Health Research and
Development
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Program Book
OF THE
VER ITY
PHI PIN

S
LIP
World Expert Lecture Series

I
ES
N
U
190 8
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Special thanks to
76

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C H

13th Asia Pacific Conference

November 7-9, 2019 | Makati Shangri-La Manila, Philippines

About the Cover

The world has witnessed unprecedented

Our progress in medicine and genomics requires a solid understanding of human

Together, let us explore more opportunities in the scientific community as we build

I wish you a successful event.

Rodrigo Roa Duterte

On behalf of the Department of Science and Technology (DOST), I would like to

With the theme “Advancing Translational Medicine and Collaborations in

On behalf of the Department of Science and Technology – Philippine Council

All the best for a fruitful and memorable 13th APCHG!

Jaime C. Montoya, MD, PhD

On behalf of the University of the Philippines, I congratulate the Institute of Human

I wish everyone a fruitful exchange of information, insights, and ideas.

Carmencita D. Padilla, MD, MAHPS

As the President of the Asia Pacific Society of Human Genetics, I extend a

Eva Maria C. Cutiongco-de la Paz, MD

Local Organizing Committee International Advisory

The Asia Pacific Society of Human Genetics (APSHG) is a non-profit organization,

The objectives of the Society are: Past Presidents

University of the Philippines Department of Science and Technology

Illumina Genzyme Reckitt Benckiser

Office of International Linkages

World Expert Lecture Series

University of the Philippines

Tourism Promotions Board Rainphil and Unilab Newborn Screening Foundation

Hemoglobinopathies for NBS Program Implementers

Hemoglobinopathies, as a group of disorders, is the second most

The objectives of the workshop are as follows:

Expected participants of the said workshop includes: Newborn Screening Center

Program 07:30 AM - 08:00 AM Registration

09:45 AM – 10:15 AM Coffee Break & Picture Taking

Maria Paz Virginia K. Otayza (NSC-Northern Luzon)

Tuesday 08:30 AM - 08:45 AM Recap of Day 1

Wellcome Genome Campus Advanced Course: Next Generation

Use of NGS technologies encompassing gene panels, whole exome

This workshop aims to equip beginners with a working toolset

The workshop is aimed at researchers and clinicians/healthcare professionals in the

Program 07:30 AM - 08:00 AM Registration

Wednesday 07:30 AM - 08:15 AM Recap/Day review

3rd Genetic Counseling Preconference Workshop

The genetic counseling preconference workshop will bring together

Program 07:30 AM - 08:00 AM Registration

Role Play: Genetic Counseling Session

4th ASEAN Congress on Medical Biotechnology and Molecular

The theme of the 4th ASEAN Congress on Medical Biotechnology

Program 07:00 AM - 08:00 AM Registration

Newborn Screening Session

4th Volunteer Youth Leaders for Health-Philippines National

10-11 November 2019

The Volunteer Youth Leaders for Health-Philippines (VYLH-Philippines) National

Program 08:00 AM - 10:00 AM Opening Ceremonies

State of a Network Address

11:30 AM - 11:45 AM Reaction

04:15 PM - 04:30 PM Open Forum

Monday SESSION 4: VYLH Gearing Towards Global Health Impact

Day Day Day

07:30 AM - 08:30 AM 07:30 AM - 08:30 AM 07:30 AM - 08:30 AM

07:30 AM - 08:30 AM Registration

08:30 AM - 09:30 AM Opening Ceremonies

Two Tales of Translational Genomics: Pediatric Genetics and Inherited Breast