Genomics
Introduction
The Group is working in the field of genetic disorder for than two decades and have molecularly diagnosed many families with rare genetic disorders. During this journey novel genes responsible for Rare Neurological and Skeletal Diseases were identified, and a novel phenotype was discovered which was later termed as “Siddiqi Syndrome”.
Stroke (Hemorrhagic & Ischemic) is the fourth leading cause of death in Pakistan (Ref). The group is also working to find the genetic predisposition of Pakistani population for stroke to calculate the risk estimation.
Goal
- To identify novel genes and pathways responsible for rare genetic diseases for better disease management & provide treatment options.
- Stroke prevention and establishment of a genetic test that can help to calculate risk score for stroke.
Collaborations
Presently, for Stroke Genetics, Lee Kong Medical College, Singapore. Other collaborations with different institutions regarding the rare diseases is in progress.
Future Work
The Group is working to establish the National Database for human rare diseases and a catalogue of genetic variations. This will help to foresee the future disease burden in Pakistan. It will be source of information and data for different health institutions and policy makers.
