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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.
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| 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.
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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Comment by Riaz Haq on June 27, 2026 at 4:46pm
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A landmark study of 173,303 genomes in the Pakistan Genome Resource revealed that . Researchers identified complete loss-of-function (LoF) variants in 6,476 genes—about one-third of all human protein-coding genes. [1, 2]Why Does This Happen?
- Consanguinity: High rates of consanguineous marriages (marriages between first cousins) over hundreds of years cause children to inherit similar genetic mutations. [1, 2]
- Homozygous Disruption: When both copies of a gene are deactivated, it provides scientists with a rare "knockout" model to see how human biology functions without certain genetic components. [1, 2]
Significance of Missing Genes- Challenging Mouse Models: The study upended traditional science by proving that thousands of genes considered "essential to life" (based on animal models) can actually be deactivated in humans without harmful effects. [1, 2, 3]
- Drug Development: These "missing genes" help explain why drugs and treatments that look promising in mice often fail when tested on humans. [1, 2]
- Untapped Medical Data: The dataset found millions of unique variants absent from standard global databases, providing new pathways to discover safe, targeted drugs for diseases like Parkinson's, heart conditions, and fatty liver. [1, 2]
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Pakistani researchers find link between the microbiome and premature birth
https://www.npr.org/2026/07/27/nx-s1-5909649/pakistani-researchers-...
A single bacteria in a pregnant person’s microbiome can signal whether their baby is at risk for premature birth. Lower levels of a bacteria called Prevotella copri indicated a greater chance a woman would not carry her pregnancy to full term. Researchers in Pakistan called the discovery a “Eureka moment” for them.
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