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I went into medicine, because I want to help other people, in particular children. I also have a strong interest in research, so sub-specializing in genetics was the optimal combination of my interests. The patients we see in the general genetics clinic usually have complex problems; I use an individualized approach, carefully listening to families in order to make a proper diagnosis.

I have been practicing clinical genetics for 40 years and there has been astounding progress in the field. In 1999, I was in Quito Ecuador on the way to the Galapagos, when I received a phone call from my collaborator that we had discovered the gene that causes Rett syndrome. I am proud of the many recent breakthrough discoveries that enable us to make specific diagnoses.

I like to spend time with families to make sure they really understand the diagnosis and treatment options, and I like to follow them over time. I find that Ive learned a great deal from families that I could never learn from reading medical literature.