Neurodevelopmental Disorders: from the bedside to the bench and back
Remote access via Teams should be available, contact Stephanie Jones for a link.
Neurodevelopmental Disorders (NDD) affect 2-3% of the general population and are heterogeneous in presentation, severity, and causes. Over 2000 single gene defects responsible for NDD have been described so far and individually they qualify as ‘rare’ or ‘ultra-rare’ diseases. To resolve the diagnostic dilemma for NDD patients, we have used either a phenotype-driven approach (i.e. based on symptoms, such as brain malformations, epilepsy) or a molecular network approach (e.g. looking at families of proteins) to identify novel NDD genes. We have done this using our own genetic sequencing data from patients, as well as large datasets such the DDD study and 100,000 Genomes Project. Natural history cohort studies and genotype-phenotype correlation studies have not only enabled prognostication but also helped identify objective measures of clinical trials outcome.
With the rising diagnostic yield in rare NDD patients, research focus has turned to therapy. Severe epilepsy in NDD affects the quality of life for patients and their carer. Our recent study of patients with severe, early onset epilepsy has shown the importance of genotype in determining optimal treatment. Further work on early therapy for genetic NDD is underway.
Date: 12 June 2024, 13:15 (Wednesday, 8th week, Trinity 2024)
Venue: John Radcliffe Hospital - Main Building, Headington OX3 9DU
Venue Details: Seminar Room 2B, George Pickering Education Centre Level 3
Speaker: Prof Usha Kini (University of Oxford)
Organising department: Nuffield Division of Clinical Laboratory Sciences
Organiser: Dr Stephanie Jones (University of Oxford)
Organiser contact email address: stephanie.jones@ndcls.ox.ac.uk
Host: Prof Deborah Gill (University of Oxford )
Part of: NDCLS Seminar Series
Booking required?: Not required
Audience: Members of the University only
Editor: Stephanie Jones