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Professor Phil Beales

Professor Beales obtained his degree in Genetics and Medicine from University College London. He undertook postgraduate training in both general medicine and paediatrics before specialising in Clinical Genetics.

In 1999, he published the largest survey of BBS problems with the help of members of BBS UK (then LMBBS). This culminated in the identification of a number of new features not previously described in the medical literature and enabled Professor Beales to propose new diagnostic criteria, with the expressed purpose of enabling an earlier diagnosis for many more children.

In 1999, Professor Beales, with colleagues at Baylor College of Medicine in Houston discovered the first gene (BBS6) to cause BBS. Since then, at least 22 genes are now linked to the Syndrome.

Professor Beales is based at The Institute of Child Health/Great Ormond Street Hospital where he founded the Cilia Disorders Laboratory. Together with collaborators from Europe and North America, his group have made major advances in our understanding of the causes of the Syndrome. This includes the notion that abnormally functioning cilia (small finger-like appendages on cells) lies at the heart of BBS. The challenges that lie ahead involve understanding how dysfunctioning cilia contribute to various syndrome aspects. These discoveries have brought closer the goal of providing treatments to prevent further visual deterioration or weight gain for which Professor Beales is now fully committed.

Professor Beales has been medical advisor to Bardet-Biedl Syndrome UK since 1996, was made President of the Charity in 2005 and is a founder member of the recently formed BBS UK Scientific Advisory Board. In 2010, he established, with the support of BBS UK, National Multi-disciplinary clinics, with a comprehensive genetic testing platform for all persons with BBS in England and Scotland.