Speaker: Professor Raymond O'Keefe

Dr. Raymond O’Keefe is a Professor of Molecular Genetics at the University of Manchester whose research investigates the molecular mechanisms that control RNA splicing and processing, exploring how genetic variants disrupt these mechanisms in rare genetic conditions. Overall, his research integrates molecular biology, genomics, and disease genetics to link RNA regulation with health and disease providing key information for developing therapeutic approaches. He has a substantial publication record co-authoring clinical and human genetics papers identifying disease-associated variants in genes affecting RNA splicing, mitochondrial function and neurodevelopmental disorders, showing interdisciplinary contributions beyond basic RNA biology. His research is funded by awards from the Medical Research Council and the Biotechnology and Biological Sciences Research Council (BBSRC). He is a member of the Manchester Rare Conditions Centre (Manchester Rare Conditions Centre) and Principal Investigator for the National Institute for Health and Care Research (NIHR) Manchester Biomedical Research Centre (BRC) (Manchester Biomedical Research Centre Manchester Biomedical Research Centre).

Synopsis

His talk will provide a background on rare genetic conditions and why their study is crucial for improving patient care, advancing scientific understanding, and developing therapies that can benefit both rare and common diseases. He will then provide some examples of the current projects currently being researched around rare genetic conditions.