Dr. Danish Saleheen, a Pakistani-American professor at Columbia University, and his fellow researchers have published a comprehensive analysis of 173,303 genomes from Pakistan, one of the largest genomic studies ever conducted in South Asia. This landmark work is upending how scientists understand human genetics and drug development. "South Asians have been severely underrepresented in genome studies—comprising just 2% of global genomic databases despite representing 25% of the world's population," study leader Dr. Saleheen explained. The study is sponsored by Novartis, Columbia University Irving Medical Center, and the Center for Non-Communicable Diseases, Karachi, Pakistan. Its results could fundamentally transform drug discovery.
The study has identified knockouts of nearly 6,500 genes—about one third of all protein-coding genes—in 34,000 individuals. Cousin marriages are quite prevalent in Pakistan, with half of all marriages occurring between close relatives. Landmark research, including the Pakistan Genomic Resource, highlights how these genetic traits act as both a medical challenge and a massive opportunity for scientific discovery.
What are "knockout genes"? Researchers use mice for studying diseases and "knock out" or delete specific genes to study how the deletions impact health and contribute to disease. The problem is that translation of such findings to humans has been difficult, "because mouse genes often have different functions than their human counterparts," Saleheen says. “What’s unique about our Pakistan study is we can go back to participants and conduct comprehensive medical exams to see what kind of effects the gene deletion may have on the individual,” he adds.
Dr. Saleheen is a physician-scientist working at the intersection of human genetics and drug discovery. He has an MBBS degree from Karachi's Aga Khan University and a Ph.D. in Cardiovascular Genomics from Cambridge University. He is Professor of Medical Sciences and Director of Global Genomics at Columbia University Irving Medical Center, founding Director of the Center for Non-Communicable Diseases (CNCD) in Pakistan, and founding Principal Investigator of the Pakistan Genome Resource (PGR) — one of the world's largest human "knockout" discovery programs (www.cncd.org). He is the author of more than 250 research papers and a 2018 recipient of the Clinical Research Forum's Top 10 Clinical Research Achievement Award, the national prize recognizing the ten most outstanding clinical research accomplishments in the United States that year.
Related Links:
Pakistani-Americans Rising Strength in Academia
Pakistani-American Surgeon Transplants Pig Heart into a Human
35,000 Pakistan-Born STEM Workers in US
Over 1000 Pakistani Medical Graduates Match in US Residency Programs
Pakistan Scientific Output is World's Fastest Growing
India's Chandrayaan 3 Success: Can Pakistanis Explore Space?
Digital Pakistan 2022
Pakistan's Large and Growing Civil Nuclear Program
Riaz Haq's Youtube Channel