Consultant Profile

Professor Philip Beales
MD FRCP FMedSci
Professor of Medical Genetics
Speciality: Genomic Medicine, Medical Genetics
Professional Profile
Professor Phil Beales studied genetics at UCL and then qualified in medicine at Kings College London and UCL. He trained in general medicine and paediatrics at the Royal London Hospital and Great Ormond Street Hospital for Children before specialising and completing training in Clinical Genetics (at Guys Hospital and Great Ormond Street Hospital).
He has over twenty-five years’ experience in medical genetics research supported by a Medical Research Council fellowship and Wellcome Trust Senior Research Fellowships. He is world-renowned for his pioneering research into ciliopathies and is a leading authority on this emerging group of inherited conditions.
Phil Beales was appointed Professor of Medical Genetics in 2005 at UCL and Great Ormond Street Hospital where he currently works as a consultant specialising in ciliopathy conditions such as Bardet-Biedl syndrome (he leads the NHS nationally commissioned service).
He was elected Fellow of the Royal College of Physicians in 2009 and elected Fellow of the Academy of Medical Sciences in 2011.
In 2013, Beales co-founded Congenica Ltd, a Cambridge-based spin-out from the Sanger Institute that supports analysis of human genome sequences. In 2016, he co-founded Elite Medicine aimed at revolutionising personalised patient care using genomic medicine.
Specialises In
Genomic medicine
Orphan/rare inherited diseases
Genetics of health
Professional Memberships
Fellow of Royal College of Physicians
Fellow of the Academy of Medical Sciences