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.
Date: 8 June 2023, 13:00 (Thursday, 7th week, Trinity 2023)
Venue: MRC Weatherall Institute of Molecular Medicine, Headington OX3 9DS
Venue Details: WIMM Seminar Room and via Teams
Speaker: Professor Stephan Sanders (IDRM, University of Oxford)
Organising department: MRC Weatherall Institute of Molecular Medicine
Organisers: Karen Brown (Weatherall Institute, University of Oxford), Karin McLeod (University of Oxford)
Organiser contact email address:
Host: Professor Anne Goriely (Weatherall Institute of Molecular Medicine, University of Oxford)
Booking required?: Required
Booking email:
Audience: Members of the University only
Editors: Nicole Harris, Yasmine Saito, Karen Brown, Karin McLeod