Developmental Genetics and Birth Defects

The overall objective of my program of research is to use a clinical genetics perspective to inform the development of novel biological and non-biological interventions to improve outcomes for individuals with psychiatric disorders and to support their families.

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

Neurological mutant mice are used as entrees into studying the genetics, cell biology and development of genes that are critical to nervous system development.

Mammalian development, Transcriptional regulation and epigenetics, Hepatocyte differentiation, Heart valve formation, Signal transduction, Transgenic/knockout mice, Whole genome profiling

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.

Discovery of monogenic causes of human developmental or metabolic disorders; natural history of monogenic disorders; optimal management of mitochondrial disorders.

Genetic, genomic and comprehensive phenotyping studies for the autism spectrum disorders, idiopathic intellectual disabilities and other complex disorders of neurodevelopmental and/or behavioral disability.

Chromosomal etiology of intellectual disability/autism and cancer, Molecular cytogenetics, Identification of subtle chromosomal abnormalities using whole genome arrays

Genetics and epigenetics of human reproduction. Environmental effects on genes affecting placental function and fetal development. Epigenomics related to preeclampsia, intrauterine growth restriction, birth defects and early child development.

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.

Melanoma, Mouse models, Developmental Genetics.

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