Scientist Stories: Philip Beales, Functional Genomics

Philip Beales’ researches in to the cause and treatment of rare diseases having discovered over 40 disease-related genes in the last decade. His main research focus is on the ciliopathies, which he has helped to characterise clinically and molecularly. He proposed (and later proved) that non-motile cilia underpinned the multi-system disorder, Bardet-Biedl Syndrome. He was lead author on the first gene discovery for the Bardet-Biedl syndrome and Jeune Syndrome, the latter implicating for the first time, cilia dysfunction in skeletal dysplasias. His lab was one of the earliest to develop tools for the functional characterisation of ciliary proteins in disease including the generation of several animal models that have assisted in understanding disease causation.

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