GENOME-WIDE ASSOCIATION STUDIES IN GENOMIC MEDICINE - ARE WE THERE YET?

oleh: M. Ilyas Kamboh

Format: Article
Diterbitkan: Dow University of Health Sciences 2008-12-01

Deskripsi

A lm ost all hum an diseases have a genetic component, small in some and larger in others. Rare disorders like cystic fibrosis or sickle cell disease are largely determined by single gene mutations with high penetrance. On the other hand, common diseases like coronary heart disease or type 2 diabetes result from a complex interaction of multiple genes and environmental factors where individual genes contribute small but cumulative effects to disease susceptibility. Identification of underlying genes for these diseases is a critical first step towards devising potential therapeutic and preventive measures.