Team Members:
Prof Low Poh Sim
A/Prof Samuel Chong
Dr Denise Goh Li Meng
Dr. Heng Chew Kiat
Dr. Lai Poh San
Dr Lee Yung Seng
Dr Stacey Tay
The Children’s Medical Institute has several on-going studies in the genetics of the following disorders:
1. Duchenne muscular dystrophy
2. Spinal muscular atrophy
3. Neurofibromatosis
4. Marfan’s syndrome
5. Hemophilia A and B
6. Retinoblastoma
7. Alagille Syndrome
8. 21-hydroxylase deficient form of congenital adrenal hyperplasia
9. DAX-1 gene in pseudohypoparathyriodism type 1a
10. GS aplha gene in pseudohypoparathy, type 1a
11. Mitochondrial cytopathies
Population genetics is also actively being researched. Our current projects include a study into the genetics of several multi-factorial diseases:
* Cardiovascular genetics of coronary artery disease, including genes involved in lipoproteins,
lipid metabolism and haemostasis
* Asthma genetics
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