Professor Phil Beales

Professor Phil Beales is head of Genetics and Genomic Medicine at ICH, Director of the Centre for Translational Genomics (GOSGENE) and head of the Cilia Disorders Laboratory (CDL). His research interests centre on rare diseases, especially the ciliopathies, a class of disorders caused by defects in the formation or function of the cilium.

This focus on ciliopathies stems from a long term interest in Bardet-Biedl syndrome (BBS) a genetically heterogeneous disorder characterized primarily by retinal degeneration, obesity, polydactyly and renal malformations. Following his medical training at King's College and UCL, Phil was drawn to research, initially into the genetics of diabetes, insulin resistance and obesity. He became interested in BBS with the idea that understanding the pathomechanism of this rare disease may give broader insights into more common disease etiology. In 2003 the CDL was instrumental in establishing primary cilia dysfunction as causative in BBS, a finding that was at the spearhead of the now thriving field of ciliopathy research.