A team of researchers from IOB and partner institutions in Pakistan and Switzerland has published the most comprehensive genetic study of inherited retinal diseases (IRDs) in the Pakistani population to date. The study, published in npj Genomic Medicine, analyzed over 700 individuals from 213 families and identified a uniquely distinct mutational landscape shaped by consanguinity and regional founder effects. These findings not only enhance our understanding of IRDs in South Asia but also pave the way for more accurate genetic diagnosis and future gene-based therapies in underrepresented populations.

Original Publication

A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort

Mukhtar Ullah, Atta Ur Rehman, Mathieu Quinodoz, Abdur Rashid, Francesca Cancellieri, Asad Munir, Karolina Kaminska, Afia Iqbal, Samra Javed, Muhammad Dawood, Hafiz Muhammad Azhar Baig, Shamim Saleha, Shagufta Naz, Humera Kausar, Ali Muhammad Waryah, Andrea Superti-Furga, Muhammad Ansar & Carlo Rivolta

NPJ Genom Med. 2025 Apr 4;10(1):31.

doi: 10.1038/s41525-025-00488-2.