I am a clinical geneticist based at the Institute of Child Health and Great Ormond Street Hospital. My interest is genetic causes of deafness in children and adults. My group, in collaboration with others in Europe, has identified a number of genes responsible for syndromic and non-syndromic forms of deafness, including X-linked deafness, the cardio-auditory syndrome and Usher syndrome. We have studied the expression and functional effects of mutations identified in these genes in our patients in order to understand how these give rise to disease. Our work on Usher syndrome initiated the National Collaborative Usher Study, a large clinical and molecular study of people with Usher syndrome in the UK, the results of which are currently being analysed. Molecular analysis of all the Usher genes has been performed in collaboration with Prof Karen Steel at the Wellcome Trust Sanger Institute.
In addition I am also interested in ototoxicity and the mechanisms and genetic basis of this. We are exploring whether near-bedside genetic testing for mutations predisposing to ototoxicity, is feasible.
I work closely with the diagnostic genetic laboratories and our work has led to improvements in clinical services for our patients, including more comprehensive molecular diagnosis for deafness, and specialist clinics in the region. These include genetic deafness clinics at GOSH and RNTNEH as well as a joint sensory clinic, for patients with dual sensory impairment, which is held at the NHNN together with Professor Linda Luxon, Mr Andrew Webster and representatives from Sense.