Linking rare and common diseases

(© Image: Depositphotos) - A study conducted at the University of Lausanne and the SIB has demonstrated that a little-studied category of genetic variants, generally associated with serious rare diseases, also influences the risk of more common diseases in the general population. Their results, published in the January 8, 2024 issue of the journal "Genome Medicine", are promising for the development of personalized medicine. Copy-Number Variants (CNVs) are a poorly understood type of genetic mutation, in which an individual possesses more (duplication) or fewer (deletion) than two copies of some element of their DNA. Historically, CNVs have been studied in clinical cohorts of individuals suffering from 'genomic disorders'. These are generally characterized by severe clinical symptoms appearing in childhood, such as neurodevelopmental delays, physical malformations or disorders such as autism. In previous work, the Lausanne-based teams studied the presence of CNVs in 500,000 people from the UK Biobank, a large cohort of volunteers from the general British population for whom genetic data is available. This study has shown that CNVs are present in the general population at a higher frequency than previously thought, and that they affect certain traits, such as cholesterol levels, an indicator for certain pathologies", says Alexandre Reymond , full professor at the Centre intégratif de génomique in the Faculty of Biology and Medicine at the University of Lausanne. This led us to ask: what if these mutations had a role in susceptibility to more common diseases?