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Philip L Beales
Philip Beales is Professor of Medical Genetics at the Institute of Child Health, University College London, and a consultant clinical geneticist at Guy’s Hospital and Great Ormond Street Hospital in London. His research is focussed on the study of the role of primary cilia in disease and development. He has a longstanding interest in the ciliopathy Bardet-Biedl syndrome, and his laboratory was instrumental in unveiling the role of primary cilia dysfunction in the pathogenesis of this rare congenital condition.
He also discovered that the aetiology of a group of skeletal disorders such as Jeune Asphyxiating Thoracic Dystrophy, Cranioectodermal dysplasia, and Acrocallosal syndrome also involves primary ciliary dysfunction. One of the key goals of his laboratory is to identify targets for therapy in ciliopathies through the understanding of the role of primary cilia in disease. Professor Beales is Medical Advisor to the Laurence-Moon-Bardet-Biedl Society in the UK, and is a founder member of Ciliopathy Alliance UK, which comprises patient organisations, medical researchers, physicians, and other healthcare professionals representing individuals and families affected by diseases associated with ciliary dysfunction.