PakAlumni Worldwide: The Global Social Network

The Global Social Network

Pakistani-American Professor Publishes Landmark Genomic Research on Pakistanis

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, published in the journal Nature, has identified knockouts of nearly 6,500 genes—about one third of all protein-coding genes (exomes)—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.

Study of Knockout Genes in Humans vs Mice

What are "knockout genes"? In Pakistan, the study has identified thousands of individuals with naturally missing or "knocked out" or "deleted" 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.

The study reveals that South Asian populations carry genetic ancestry components shared with both European and African populations, suggesting that insights gained from the Pakistan Genome Resource (PGR) have broad applicability across multiple human populations. This genetic overlap means that treatments validated in Pakistani populations are likely to benefit diverse ancestry groups globally.

"What we would prefer to do is identify people who are born without working copies of these genes and see if that has an effect on their health." These "human knockouts" are rare in genome databases like the UK Biobank and the NIH's All of Us, which predominantly contain genomes of people with European ancestry. "Consequently, many experimental drugs that seem promising in mice fail in clinical trials," Saleheen says. "That costs billions of dollars in losses every year."

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.

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