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Rare Disease Innovation & Partnering Summit
May 16-18, 2023
Delivered as a Hybrid EventBoston, MA

Philip Beales BSc MD FRCP FMedSci
Professor of Medical and Molecular Genetics at University College London


PHILIP BEALES is Professor of Medical and Molecular Genetics at UCL and Great Ormond Street Hospital in London, and an NIHR Senior Investigator. Beales is a proponent of rare/orphan diseases and is best known for his research into and clinical characterisation of, the ciliopathies, a new emerging group of conditions. He has led research culminating in novel gene discoveries for over 45 disorders. Beales’ lab undertakes research in translational science and therapeutics and is leading a new gene therapy spinout from UCL.

Beales is an ardent supporter of endeavours to find funding solutions for very rare and ultra-rare diseases to advance therapies through to clinical approval.

Beales continues to practice clinical genetics at both Great Ormond Street Hospital for Children and St. Thomas’ Hospital, London. He also sits on the NICE Highly Specialised Technology committee to assess novel therapies for the NHS.

Beales has long recognised the importance of academia/healthcare-industry partnerships and to this end has co-founded several diagnostics and biotech start-ups. He was elected fellow of the Academy of Medical Sciences in 2011.

Agenda Sessions

  • Patients and Payers: Perspectives on Developing Gene Therapies for Rare Diseases