The GenPK Project Receives CHF 3,5 millions from FNS

The Jules Gonin Eye Hospital, the CHUV and the University of Lausanne are to study the genomes of 12,000 people from highly consanguineous families in Pakistan in order to improve the detection of risks associated with developing rare diseases.

The Swiss National Science Foundation has awarded a funding of CHF 3,494,000 to Dr Muhammad Ansar, PhD, (Jules Gonin Eye Hospital), Prof. Alexandre Reymond, PhD (Director of the Integrative Genomics Centre / Health 2030 Genome Centre, University of Lausanne), Dr Federico Santoni, PhD (Department of Endocrinology, Diabetology and Metabolism, CHUV) and Prof. Iram Anjum (Dean of Kinnaird College for Women, Lahore). The project is scheduled to run for four years.

The project plans to include 12,000 people from 2,000 consanguineous Pakistani families with ‘multiplex’ cases. These are families in which the parents are related (cousins, for example) and in which several members suffer from the same rare disease. These diseases frequently affect the eyes or metabolism. This configuration facilitates the identification of shared recessive pathogenic variants, in other words, genetic abnormalities that cause a disease only when two identical copies are present (one inherited from each parent). This is known as homozygosity.

In these families, these variants are more common and easier to detect, as they appear consistently in affected individuals within the same family. They are said to cosegregate with the disease.
This enables researchers to trace genetic causes more effectively and identify the responsible genes, drawing on the expertise of the CHUV and the University of Lausanne in identifying genetic variants involved in rare diseases, as well as the advanced technological capabilities of the Health 2030 Genome Center for large-scale genome sequencing and analysis.

Thanks to whole-genome sequencing using ‘long-read’ technology and other complementary approaches, the project will improve genetic diagnosis, generate significant genomic resources and thus advance research into rare diseases and human genetics on a global scale.

➡️ Source: UNIL | 📸 ©Canva Media Library