Philip Beales

Biography

PHILIP BEALES is Professor of Medical and Medical Genetics at UCL, an NIHR Senior Investigator and lately, a Wellcome Trust Senior Research Fellow in Clinical Science. He is currently chair of UCL Institute for Precision Medicine, Founder and Director of the P4 Precision Medicine Accelerator in London and head of the Cilia Disorders Laboratory at the UCL. Beales is best known for his clinical and genetic research (20+ years) into rare diseases especially, the ciliopathies, leading research culminating in novel gene discoveries for Bardet-Biedl syndrome, Jeune Asphyxiating Thoracic Dystrophy, Cranioectodermal dysplasia, Acrocallosal Syndrome and several other disorders. He was the first to attribute the Bardet-Biedl syndrome phenotype to dysfunctional primary cilia. Beales continues to pursue his interests in early onset obesity, retinal and renal disease and more recently in translational science and therapeutics for ciliopathies. He is leading ground-breaking gene therapy development for Bardet-Biedl syndrome.
He is a consultant in clinical genetics at both Great Ormond Street Hospital for Children and St. Thomas' Hospital, London and national lead for the NHS England specialist commissioned Bardet-Biedl syndrome clinical and diagnostic service.
He sits on numerous advisory boards including the Ciliopathy Alliance. Beales heads the UCL Personalised Medicine Domain and the UCLP AHSC Personalised Medicine Theme. He is also founding Co-editor in Chief of BMC CILIA and sits on several journal editorial boards. He was elected fellow of the Academy of Medical Sciences in 2011.