My laboratory studies include inherited disorders of lipid metabolism, premature cardiovascular disease, and pharmacogenomics. We use human genetics, animal models, and induced pluripotent stem cell models of disease.
Characterization of the stem cell state and its control by comparative global gene expression and proteomics analyses.
Changes in specific genes that result in specific diseases, concentrating on Huntington disease and premature coronary artery disease.
Mammalian development, Transcriptional regulation and epigenetics, Hepatocyte differentiation, Heart valve formation, Signal transduction, Transgenic/knockout mice, Whole genome profiling
Gene regulation, leukemic stem cell biology, basic and translational leukemia research, signal transduction, proteomics.
Stem cells, developmental control, telomere biology, self-renewal and genetic instability.
Neurogenetics, Huntington disease and other triplet repeat disorders, transgenic/knockout mice, mouse models of human neurodegenerative disease, experimental therapeutics.
Role of imprinted genes in mammalian development. Epigenetics of embryonic stem cells and germ cell lineage. Gene targeting.
Genetic, genomic and comprehensive phenotyping studies for the autism spectrum disorders, idiopathic intellectual disabilities and other complex disorders of neurodevelopmental and/or behavioral disability.
Interplay between transcription, DNA methylation and histone modifications in the germ line, early development and disease
Gene-based therapies for diseases of the brain and eye, cell-type specific MiniPomoters for rAAV delivery of gene augmentation and genome editing (CRISPR/cas9) therapies to cure mouse models of the human disease.