Progressing from genes to therapies in neurodevelopmental disorders
This is a hybrid event - with the speaker attending in-person and viewable on Teams.
Large-scale genomic analyses have identified hundreds of genes associated with neurodevelopmental disorders, often via heterozygous de novo mutations. To treat these disorders, we need to clarify whether they act via a loss-of-function or gain-of-function mechanism and how this correlates with phenotype. Looking at the mutations identified, many genes are enriched for protein-truncating variants, in keeping with a loss-of-function/haploinsufficiency model. In contrast, many other genes are enriched for missense variants often at recurrent loci, in keeping with a gain-of-function model. Through phenotype and functional analyses of the genes SCN2A and SLC6A1, an alternative explanation arises: that most variants are loss-of-function and a combination of protein vulnerability and hypermutable loci underlie missense enrichment and recurrence.
8 June 2023, 13:00 (Thursday, 7th week, Trinity 2023)
MRC Weatherall Institute of Molecular Medicine, Headington OX3 9DS
WIMM Seminar Room and via Teams
Professor Stephan Sanders (IDRM, University of Oxford)
MRC Weatherall Institute of Molecular Medicine
Karen Brown (Weatherall Institute, University of Oxford),
Karin McLeod (University of Oxford)
Organiser contact email address:
Professor Anne Goriely (Weatherall Institute of Molecular Medicine, University of Oxford)
WIMM THURSDAY SEMINARS
Members of the University only