The study of the genetic basis of disease in defined inbred communities offers
a unique opportunity for the identification and characterization of disease-associated genes.
Relying on genetic databases derived from such communities,
the human genetic disorders research group strives to unravel the molecular patho-physiology of genetically determined human diseases.
In doing so, the team:
1. Identifies and characterizes nuclear genes associated with human diseases through molecular studies of human familial cases;
2. Identifies and characterizes mitochondrial DNA polymorphisms associated with human diseases and aging;
3. Uses model systems from the Drosophila to mice;
4. Conducts functional genomics and proteomics;
5. Generates and exploits novel bioinformatics tools.