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Melanoma, Mouse models, Developmental Genetics.

We implement second generation sequencing technologies for the identification of mutations causing highly prevalent neurological diseases, with primary focus on multiple sclerosis, and characterize new models of human disease based on these discoveries for the development of novel and more effective treatments.

Research interests relate to the many ethical and social issues inherent within clinical practice and research in genetic and genomic medicine including: direct to consumer genetic testing; incidental/ secondary findings; and biobanks.

Computational analysis of human genome sequence for the study of gene regulation and rare pediatric disorders.

Telomere and telomerase biology, inherited bone marrow failure syndromes, X-linked inheritance, cancer risk and therapeutics.