Fellow

Richard Gibbons is a Reader in Clinical Genetics at Oxford. He is one of the UK’s leading clinical geneticists and has established an international reputation in the area of epigenetics in the cause of human disease. He was the first person to identify disease-causing mutation in a class of protein complexes referred to as chromatin remodelling factors. This was an important landmark in the field and established an entirely new line of enquiry, which has proliferated since his discovery. His clinical laboratory has become the international reference centre for ATR-X syndrome, which he first described and other associated diseases. Nearly all new cases of this syndrome diagnosed worldwide, in which severe X-linked mental retardation and facial dysmorphism occurs in the setting of alpha thalassaemia, are now referred for Dr Gibbons’ opinion. His current basic research into chromatin remodelling factors is recognised as being at the cutting edge of investigation into the mechanisms by which this important group of proteins work.