Major Genetic Study of 173,000 Pakistanis Reveals New Disease Insights
A large-scale research project involving over 173,000 individuals from Pakistan has uncovered more than 3.1 million previously unknown genetic variations.
The study represents one of the most comprehensive genomic efforts conducted in the country and provides valuable insight into the biological basis of several major diseases.
The findings are linked to conditions such as heart disease, diabetes, obesity, fatty liver disease, and neurological disorders including Parkinson’s disease. Researchers suggest these discoveries could play an important role in improving diagnosis.
The study is based on the Pakistan Genome Resource (PGR), a large biobank containing whole-exome and whole-genome data collected from individuals across 23 cities in Pakistan.
Scientists analyzed over 166,000 exomes and thousands of whole genomes to map genetic diversity across the population. The research confirmed known gene-disease associations while also revealing new genetic markers linked to cardiovascular and metabolic disorders.
It also identified naturally inactive genes that may offer protection against certain diseases, opening new possibilities for drug developmen
The research was led by Professor Danish Saleheen, Dr Asif Rasheed, and Professor Shahzad Ali Khan, who played central roles in designing and overseeing the project.
The study also involved a wide network of Pakistani and international collaborators working across multiple institutions.
Additional contributors included Dr Shareef Khalid, Dr Maleeha Zaman Khan, Dr Lubna Kamani, along with researchers such as Muhammad Jahanzaib and Muhammad Rehan Mian, among others. Their combined efforts helped build one of the largest genetic datasets in the region.
Researchers believe the findings could transform future healthcare by enabling earlier identification of disease risks and more personalized treatment approaches based on genetic profiles.
The data may help clinicians detect conditions before symptoms appear and improve care for rare inherited disorders.
The project received support from global partners including Regeneron Pharmaceuticals, AstraZeneca, Novartis, Astellas Pharma Inc., and the US National Institutes of Health (NIH). It was also approved by Pakistan’s Institutional Review Board and the National Bioethics Committe
A large-scale research project involving over 173,000 individuals from Pakistan has uncovered more than 3.1 million previously unknown genetic variations.
A large-scale research project involving over 173,000 individuals from Pakistan has uncovered more than 3.1 million previously unknown genetic variations.
The study represents one of the most comprehensive genomic efforts conducted in the country and provides valuable insight into the biological basis of several major diseases.
The findings are linked to conditions such as heart disease, diabetes, obesity, fatty liver disease, and neurological disorders including Parkinson’s disease. Researchers suggest these discoveries could play an important role in improving diagnosis.
The study is based on the Pakistan Genome Resource (PGR), a large biobank containing whole-exome and whole-genome data collected from individuals across 23 cities in Pakistan.
Scientists analyzed over 166,000 exomes and thousands of whole genomes to map genetic diversity across the population. The research confirmed known gene-disease associations while also revealing new genetic markers linked to cardiovascular and metabolic disorders.
It also identified naturally inactive genes that may offer protection against certain diseases, opening new possibilities for drug developmen
The research was led by Professor Danish Saleheen, Dr Asif Rasheed, and Professor Shahzad Ali Khan, who played central roles in designing and overseeing the project.
The study also involved a wide network of Pakistani and international collaborators working across multiple institutions.
Additional contributors included Dr Shareef Khalid, Dr Maleeha Zaman Khan, Dr Lubna Kamani, along with researchers such as Muhammad Jahanzaib and Muhammad Rehan Mian, among others. Their combined efforts helped build one of the largest genetic datasets in the region.
Researchers believe the findings could transform future healthcare by enabling earlier identification of disease risks and more personalized treatment approaches based on genetic profiles.
The data may help clinicians detect conditions before symptoms appear and improve care for rare inherited disorders.
The project received support from global partners including Regeneron Pharmaceuticals, AstraZeneca, Novartis, Astellas Pharma Inc., and the US National Institutes of Health (NIH). It was also approved by Pakistan’s Institutional Review Board and the National Bioethics Committe
