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.
We use genome-scale screens and molecular cell biology approaches in model organisms and mammalian cells to study how proteins are localized to cellular membranes, and how defects in this process results in neurodegeneration and cancer.
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.
Neurogenetics, Huntington disease and other triplet repeat disorders, transgenic/knockout mice, mouse models of human neurodegenerative disease, experimental therapeutics.
Genetic, genomic and comprehensive phenotyping studies for the autism spectrum disorders, idiopathic intellectual disabilities and other complex disorders of neurodevelopmental and/or behavioral disability.
Cancer; Diabetes; Cardiovascular; Immunity, Inflammation and Infection; Neuroscience; Cell & Developmental Biology
Chromosomal etiology of intellectual disability/autism and cancer, Molecular cytogenetics, Identification of subtle chromosomal abnormalities using whole genome arrays.
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.
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.