معرفی
Usha Kini is an Associate Professor of Genomic Medicine and Consultant Clinical Geneticist at the University of Oxford's Radcliffe Department of Medicine. She serves as the NIHR TVSM Specialty Lead for Clinical Genetics and co-directs the MSc in Genomic Medicine. Her research focuses on enhancing diagnostics and personalized therapies for rare genetic disorders, particularly neurodevelopmental disorders, epilepsy, and congenital malformations. She has discovered novel disease-causing genes such as PI4KA, HNRNPK, SATB1, and several GPI-Anchor Pathway genes (e.g., PGAP3, PIGY). Her work bridges clinical and molecular approaches to advance targeted therapies. She leads the Genseize project, a national initiative to expand genetic testing for primary epilepsy patients via NHS collaboration. She also chairs the NatHis Angelman Syndrome study to establish clinical trial endpoints.
- Collaborations: Includes researchers from Oxford Brookes University, Osaka University (Japan), Cedars Sinai (USA), and others.
- Education: DPhil in Medical Genetics (Oxford).
Key research areas include molecular networks in orofacial clefting, speech disorders (via DDD study data), and SATB pathway-linked neurodevelopmental disorders. Over 10 postgraduate students are supervised, with active grants from NHSE and FAST UK.
Labs/Teams: Leads the Genomic Medicine Research Group at the Nuffield Department of Medicine, collaborating with the Oxford Big Data Institute and Osaka University's RIDM.
