Following my paediatrics training at Guy’s and St Thomas’ Hospital in London and at Booth Hall Children’s Hospital in Manchester, I took up specialist training in clinical genetics at St Mary’s Hospital in Manchester. I was appointed Consultant Clinical Geneticist in 2005 and have been working at the Oxford Centre for Genomic Medicine in Oxford since. I also hold the position of Honorary Senior Clinical Lecturer at the University of Oxford. I have been working as the geneticist on the Spires Cleft Centre team since 2005. I have been a part of ‘the diagnostic odyssey’ for many of the children and young adults that I see. It is an exciting time in genetics where access to new technology is enabling clinicians reach a genetic diagnosis for their patients much faster.
The focus of my research is the genetics of birth defects such as orofacial clefting and congenital brain anomalies. I am the Oxford Principal Investigator for the DDD study and have complementary analysis projects looking at (i) Orofacial clefting and (ii)Absent speech. I also lead the Cleft GeCIP (Genomics Clinical Interpretation Partnership), which is a subset of the Musculoskeletal GeCIP, in the 100,000 Genomes Project. I have successfully published about known and novel genes related to clefting.