I am a medical geneticist, and my research bridges clinical genetics and basic science. Our work is focused in three major areas:
Application of advanced genomic technology to identifying the causes of mental retardation;
Using genetic epidemiology - statistical analysis of large collections of clinical and genetic data and various other methods - to understand the disease processes in people with neurofibromatosis 1, a common genetic condition that leads to the development of benign and malignant tumours, cardiovascular disease and osteoporosis; and
Development and dissemination of authoritative information on human teratogenic risks (risks to embryonic or fetal development) resulting from maternal treatment with various medications during pregnancy.