Pre – Lecture

Genetic Counseling
NADHIF HARYO SAMODRA - 1806173941
The Questions
1. Dr and Mrs. Sunarto are from Jakarta. Dr. Sunarto age 40 is a surgeon and Mrs. Sunarto age
38 is a corporate lawyer. They just have their first child and diagnosed as Down syndrome.
Please arrange your genetic counseling for this family.
2. Mr. and Mrs. Brandon Lee first child diagnosed as Gaucher Diseases. Please arrange your
genetic counselling for this family
3. Please make your family pedigree at least 3 generation and looking for the possibility of
genetic diseases in the family
 Down Syndrome
Chromosomal abnormality
Rare occurrence where the cell has three copies of chromosome
21.
Down syndrome is not heritable, but there are 1% chances from
all cases it can be inherited through the genes.
Q 1 : Genetic Counseling
Diagnosis
◦ Gathering pedigree tree and determine if it’s from trisomy 21 or is it because there are translocation of the chromosome 21
◦ When translocation were found, the parent’s must be looked on to see whether it is inherited or not.
◦ If there’s no translocation to be found it is a trisonomy case.

Education
◦ Discuss all about the condition, what to expect from the child and the future.

Supportive Counseling
◦ Provide emotional support, as the parent may experience many confusions and negative emotion at the same time
◦ Respect the patient statement, and of course maintain confidentiality

Follow up
◦ Summarize all of the medical and genetic information in format that can be accessible
◦ Encouraging for further counselling if the patient have further question
◦ Give contact to nearby local support group related to the conditions
 Gaucher Disease
A genetic disorder.
An abnormal accumulation of a fatty substance
glucocerebroside in the cells and organs. Abnormal
accumulation is shown by bruising in the skin, Classification
anemia & enlargement of liver & spleen. 1. GD type I (non-neuropathic)
2. GD type II
This is caused by Mutation in the GBA gene, that 3. GD type III
provide instructions for making an enzyme called
beta-glucocerebrosidase. This enzyme will break
down the glucocerebroside
Common among Ashkenazi (eastern European)
Jewish descent.
 Q2
oDiagnosis
Find out what type of GD the patient have and gather pedigree. If there’s genetic mutation in the family,
invasive testing via chorionic villus sampling / amniocentesis (sampling womb fluid) will provide prenatal
diagnosis. Amniocentesis will tell for certain whether the child has the disease.
oEducation
Inform the patient about Gaucher disease
oCounselling
Counselling is helpful to understand the chances your children will have GD or becoming carriers. Determining
someone in the family should test for Gaucher disease.
 Q2:
Pancreatic
cancer
References
Reference G. Down syndrome [Internet]. Genetics Home Reference. 2019 [cited 7 February
2019]. Available from: https://ghr.nlm.nih.gov/condition/down-syndrome#genes
Bennett R, Hampel H, Mandell J, Marks J. Genetic counselors: translating genomic science into
clinical practice. Journal of Clinical Investigation. 2003;112(9):1274-1279.
Pre – Lecture
Organelle Disease
 Pre-Lecture Organelle Disease
1. What is organelles cell ?
2. How organelles works in the cell ?

3. What is organelles diseases and its examples for every organelles ?

4. How lysosomal storage disease (LSD), mitochondrial diseases and peroxisomal disorders
categorized ?

5. What is the red flag symptoms of LSD, mitochondrial diseases and peroxisomal disorders?

6. What is the pathophysiology of the symptoms ?

7. What is the principle treatment of LSD, mitochondrial diseases and peroxisomal disorders ?
 Question 1 & 2
Organelles is simply means little organ, cells have small parts called organelles. All of the organelles work
specifically for the functionality of the cell
The organelle and its specific functions
◦ Nucleus : control center for the cells  dictates
◦ Golgi Apparatus packaging and distributing protein
◦ Mitochondria  power house of the cell
◦ Rough E.R  transporting materials
◦ Smooth E.R  to produce cellular produce (ex : hormones & lipid)
◦ Ribosome  translating the mRNA into protein
◦ Lysosome  filled with enzyme breaking down the cellular debree
 Organelle Diseases

Occurs if it contains one or more than

one dysfunctional biomolecules
The diseases occurs caused by
exposure towards volatile elements
for example : hazardous chemicals,
radioactive substances
 inherited disorder caused by the lack of specific
Lysosomal enzymes that its purpose is to break down certain
lipids or carbohydrates in the body cells
Storage
Disorder LSD are categorized according to the type of
macromolecules that accumulate the cells
Disorder
Patophysiology : cell waste pilling up because of the
absent of enzymatic molecules in the lysosome. Can
lead to cellular dysfunction

Treatment : • Bone marrow transplant

• Enzyme replacement therapy
Mitochondrial Disease
is a group of disorder caused by a dysfunctional mitochondria, the organelles that provides
energy for the cells
Symptoms: obvious trouble in the organs that needed constant ATP for example ; cardiovascular
and nervous system
Pathophysiology :
◦ With the absence of ATP, many cellular function that is supposedly be working cannot be conducted.

Treatment:
◦ respiratory chain enhancement
◦ Gene therapy
Peroxisomal Disorder
Can be categorized by :
◦ Singe peroxisomal enzyme deficiencies
◦ Peroxisomal biogenesis disorder (PBDs)

The symptoms : Developmental delay, mental retardation, & reduced communication abilities
Pathophysiology : deficiency of enzymes caused by a genetic mutation in genes whose job is
encoding peroxisomal enzymes
Treatments : toxic substance removal, multivitamins
References
Murthy TEGK, Nagarjuna S, Vali PS, et al. Lysosomal storage disorders and treatment. Intl J
PharmTech Research. 2010;2(2): 1083.
Niyazov DM, Kahler SG, Frye RE. Primary mitochondrial disease and secondary mitochondrial
dysfunction: importance of distinction for diagnosis and treatment. Mol Syndromol. 2016
Jul;7(3): 122-37.
Mitochondrial Myopathies Information Page | National Institute of Neurological Disorders and
Stroke [Internet]. Ninds.nih.gov. 2019 [cited 7 February 2019]. Available from:
https://www.ninds.nih.gov/Disorders/All-Disorders/Mitochondrial-Myopathy-Information-Page