Treatment of Bardet-Biedl Syndrome
– a collaboration with Prof Phil Beales and Dr Victor Hernandez, UCL Great Ormond Street Institute of Child Health
Prof Beales is Head of Genetics and Systems Medicine Theme, Biomedical Research Centre at UCL Great Ormond Street Institute of Child Health, Director of the Centre for Translational Genomics (GOSGENE) and Head of the Cilia Disorders Laboratory (CDL). Dr Victor Hernandez is a Senior Research Associate in the CDL group leading the translational research activities. Their interests are focused on ciliopathies, a class of disorders caused by defects in the formation or function of the cilium. The CDL was instrumental in establishing primary cilia dysfunction as causative in Bardet-Biedl Syndrome (BBS), a genetically heterogeneous disorder characterized primarily by retinal degeneration, obesity, polydactyly and renal malformations. The emphasis of the lab is now shifting towards translational science and the identification of molecular targets that could be exploited for treatment of these debilitating conditions. Apollo, Prof Beales and Dr Hernandez will collaborate to identify novel gene therapy approaches for the treatment of BBS.