My academic work is divided between research, teaching and scholarship. I have research interests in a few specific genetic disorders (especially Rett syndrome and ectodermal dyslasia) and in the genetic counselling process. I study what goes on in the genetic counselling clinic, processes of family communication, and broader topics such as stigmatisation in relation to physical appearance. I established and co-direct the Cardiff University MSc course in Genetic Counselling (in 2000) and continue to be involved now that it has become the MSc course in Genetic & Genomic Counselling. I also teach undergraduate medical students and intercalating students. I usually support one or two PhD students. My clinical work includes 'general genetics' clinics held in Cardiff and Rhondda and specialist clinics in Cadiff, with a focus on Huntington's disease, muscle disease and Rett syndrome. This work includes some aspects of disease management as well as addressing the questions and concerns of patients and families regarding the genetics of their disorder.