Qatar now has its own population-specific genome resource after researchers at Weill Cornell Medicine in New York and Qatar mapped the genomes of more than 1,000 Qatari nationals. This resource gives scientists a powerful reference tool that will facilitate efforts to identify genetic variations that cause serious and distressing conditions such as cystic fibrosis, sickle cell anemia and muscular dystrophy among the local population. 

Dr. Ronald Crystal, left, with Dr. Khalid Fakhro Credit: Weill Cornell Medicine-Qatar

The new resource, published June 30 in Human Genome Variation, will also help doctors treating Qatari nationals to more effectively practice precision medicine, which involves analyzing a patient’s genome in order to more effectively predict, diagnose and treat disease. A better understanding of the subtle variations in Qatari genomes will help researchers discover how certain ancestral genetic traits interact with environmental factors such as poor diet, lack of exercise and smoking to cause disease.

“This study is the first step in the development of precision medicine in Qatar,” said co-senior author Dr. Ronald Crystal, chairman of Genetic Medicine and the Bruce Webster Professor of Internal Medicine at Weill Cornell Medicine in New York. “Our genes decide how we respond to our environment and our risk for disease, and the variations in our genes are different for each population. With this initial description of the Qatari genome as a basis, and with future refinements to be made by the Qatari Genome Project, we now have the basis for defining the genetic risk of the Qatari population for disease, and how Qataris will respond to medical therapies.”

The project’s completion is an important milestone in a new phase of genetic research, which has progressed from mapping the entire human genome — first achieved in 2003 after 13 years of investigation — to focusing on specific populations to identify correlations between shared heritage and susceptibility to particular diseases. This project is considered the most significant resource of genetic variants in any Arab population to date.

For the study, the research team — which comprised scientists from Weill Cornell Medicine-Qatar (WCM-Q), Weill Cornell Medicine, Sidra Medical and Research Center, Hamad Medical Corporation and Cornell University — gathered de-identified samples from more than 1,000 Qatari nationals who received care at Hamad Medical Corporation clinics. The scientists then used the advanced computing technology in the lab of the WCM-Q Genomics Core to analyze and map the genomes of each patient.

This is an excerpt of an article that appeared in Weill Cornell News. Read the rest of the story here.