Researchers at Weill Cornell Medicine-Qatar (WCM-Q) have mapped the genomes of more than 1,000 Qataris, giving the country its own population-specific genome resource.

This 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 anaemia and muscular dystrophy among the local population.

It will also help doctors treating Qataris to more effectively practice ‘precision medicine,’ and predict, diagnose and treat disease. 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.

The completion of the project 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.

The project is part of a series of research studies investigating the Qatari population led by Dr. Ronald Crystal, chairman of Genetic Medicine at Weill Cornell Medicine in New York.

Dr. Crystal said: “This study is the first step in the development of precision medicine in Qatar. 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, entitled The Qatar Genome: A Population-Specific Tool for Precision Medicine in the Middle East, is the work of a research team comprising scientists from WCM-Q, Weill Cornell Medicine in New York, Sidra Medical and Research Center, the Laboratory of Medicine and Pathology at Hamad Medical Corporation ( HMC) and the Department of Biological Statistics and Computational Biology at Cornell University, Ithaca. Dr. Khalid Fakhro, an investigator at Sidra and an assistant professor at WCM-Q, is the lead author of this study.

The research team gathered samples anonymously from a total of more than 1,000 Qataris at HMC clinics and then used the advanced computing technology in the lab of the WCM-Q Genomics Core to analyse and map the genomes of each individual.

Earlier projects in the series identified three broad genomic groups within the Qatari population, termed Q1, Q2 and Q3. Q1 are largely Bedouins, while Q2 are a Persian or South Asian mixture, and Q3 are Qataris with sub-Saharan African heritage. In the latest study, higher resolution of ancestry was achieved; for example, individuals of Persian ancestry can now be distinguished from individuals of South Asian ancestry.