February 28, 2024

New research decodes the distribution of thousands de novo mutations across disease genes

A new study, involving the CIIMAR researchers Mónica Lopes-Marques and João Carneiro, has analyzed the largest number of de novo mutations to date. 

A study, involving the CIIMAR researchers Mónica Lopes-Marques and João Carneiroexamined over 46,000 disease-associated de novo mutations in humans, the largest number of de novo mutations analyzed to dateDe novo mutations occur in individuals for the first time, without being inherited from the parents. This research aimed to understand how these mutations are linked to various diseases by examining their distribution across different genes and disease categories.  
In the study Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease, the authors found a higher incidence of de novo mutations in some genes and diseases, particularly those related to neurodevelopmental and psychiatric conditions. The team also demonstrated that de novo mutations are more likely to be harmful than genetic mutations passed down through inheritance. The team intends to broaden their research to conduct a more comprehensive analysis of these genetic alterations, to enhance our understanding of the genetic basis of these disorders.

This project was coordinated by the researcher Luísa Azevedo (UMIB, ICBAS, ITR) and conducted by a multidisciplinary team that involved researchers from UMIB-ICBAS, CHUdSA, CIIMAR, from the University of Porto, and collaborators from Cardiff University, UK.