Pharmacogenomics

Lysosomal storage disease and disorders of sulfate transport.

Activation of transcription factor complexes by signaling pathways with a focus on the Pi3K/Akt network. Protein/DNA interactions characterized by chromatin immunoprecipitation (ChIP), ChIP on chip (promoter and genome-wide arrays), gel shift and site-directed mutagenesis.

Human pedigree and population genetics, and mouse modeling of neurodegenerative disease – designed to inform therapeutic development.

Changes in specific genes that result in specific diseases, concentrating on Huntington disease and premature coronary artery disease.

Our research bridges the molecular mechanisms of epigenetic regulation with the social and environmental determinants of human health to develop a comprehensive understanding of biological embedding of early life experiences

Pharmacogenomics of adverse drug reactions, genomics, personalized medicine.

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.