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Neurogenetics

:
My study experiences in Kobe University
toward becoming one of global leaders

Dian Kesumapramudya Nurputra MD PhD

Department of Community Medicine & Social Health Care Science
Division of Epidemiology
Kobe University Graduate School of Medicine

antara = betwee n ) Between Asia continent and Australia Continent.INDONESIA is an archipelagic country ( 群島国) Located : at South East Asia NUSANTARA ( Nusa = continent 大陸 . Hindian and Pasific ocean 6 hours from Osaka (KIX) to Bali (Ngurah Rai International Airport) .

pathophysiology. number of pediatrician < • Number of neuropediatrician << • Number of neuropediatrician which are experts in genetics <<<< To date. comprises of diagnosis. treatment and rehabilitation .Background • In Indonesia. global developments in medicine is using Genetic based medicine paradigm.

My previous works at Papua at Jogjakarta .

My previous works • • Full time clinical practice performing pediatrician Full time medical service and medical education teaching My Condition:  Difficulties in accessing and improving myself with most updated knowledge  Time is mostly consumed to do medical service without any improvement  Fascility of research in basic science is less established. incontrast to epidemiology .

new understanding of disease new better medicine for my society Need world-class level of research fasility Need world-class level of knowledge .My Dream • Upgrade my medical knowledge to the level of the world • To make myself useful by contributing and finding something new.

Journey to the Kobe University Entering new realm of neurogenetics • Collaboration with Professor in UGM • Correspondences with host Professor in Kobe University • Entering the Doctoral course program My Condition: • No ablity to speak Japanesse • Amateur to the biomolecular techniques • No experiences of studying abroad MODALITIES: strong will and fast learning skill .

Spinal Muscular Atrophy (SMA) • Degenerative motor neuron disease caused by loss of survival motor neuron (SMN) gene resulting in lack amount of SMN protein. • Manifests as muscle weakness • Diverse in clinical severity Type 1 Type 2 .

Spinal Muscular Atrophy (SMA) SMN gene Chromosome 5q.13 SMA locus .

Spinal Muscular Atrophy (SMA) & other neurogenetics disease Current Research: Patomechanism of SMA in the axon and motor neuron system Reveal the novel involvement of HDAC6 in the cytoskeleton dynamics of axon leading to the new target therapy .

Spinal Muscular Atrophy (SMA) & other neurogenetics disease Other Genetic Disease in research • Paramyotonia congenita • Tuberosclerosis Establishment of rapid and simple genetic diagnostic method using dried blood spot .

Arg1448His .4343 G>A p.Genetic Analysis of SCN4A exon 24 in patient with Paramyotonia Congenita DHPLC SEQUENCE Patient Patient G Father Mother Sister Control c.

What I learn during my study in Kobe University • Biomolecular and neurogenetics knowledge. and procedures • Clinical and genetic diagnosis plus genetic treatment as part of integrated medical service “it is already a commonplace in the world but it is still a “new” things for most of Indonesian doctor” . techniques.

professors • How to collect information in most efficient way • How to manage a multitasking jobs • How to publish our work and write paper BENEFICIAL SUPPLY FOR GOING GLOBAL .What I learn during my study in Kobe University • 日本の礼儀や文化 • How to build a good relationship with scientists.

– National University of Singapore (NUS) – Universiti Sains of Malaysia (USM) – Indonesia: Universitas Gadjah Mada & UI – In near future: Mastricht Univ of Netherland • Scholarship and research fund award . .What we had achieved within 4 years • Publications . .another 3 are still under review • Collaboration project with: – Biochemistry Laboratory of Himeji Dokkyo Univ.Two publications in Japanesse.Nine publications in English.

work clever and produce result . Work hard.The path toward global leadership What do we need to go to the world and become global leader ? 1. Strong Will and optimism 2.

Good communication & public relation .The path toward global leadership What do we need to go to the world and become global leader ? 3. Good information collecting skill (always updated with the new issues) 4.

The path toward global leadership What do we need to go to the world and become global leader ? “The last but not least important” 5. Keep on praying to our God .

ありがとうございました。 頑張りましょう “rather than grieving over what you cannot do. just simply do something you can do. quietly wait for spring to come” Yuki Sanbonsugi (55 y.o) a Fukushima teacher which is undergoing long fight against lymphoma . Then.