Instructor in Investigation Neurology, Mass General Research Institute

Instructor in Neurology Harvard Medical School

cell enlargement; dopamine; drosophila melanogaster; drosophila proteins; dystonic disorders; genetic diseases, x-linked; histone acetyltransferases; molecular chaperones; rotavirus; sequence homology, amino acid; tata-binding protein associated factors; toxins, biological; transcription factor tfiid; viral nonstructural proteins

Our laboratory focuses on understanding genetic mechanisms underlying diseases of the nervous system and developing therapies and biomarkers for these diseases. Longstanding work has focused on genes causing movement disorders, including early onset torsion dystonia (DYT1) and X-linked dystonia parkinsonism (XDP).

A major emphasis has also been on brain tumors, especially glioma/glioblastoma, as well as on tumor suppressor syndromes – neurofibromatosis type 1 & 2 and tuberous sclerosis type 1 & 2. We have developed preclinical mouse models for these tumors and used a number of viral vectors for gene therapy.

Our recent work has also focused on characterization of extracellular vesicles (exosomes and microvesicles) released by brain tumor cells, including their use as biomarkers, their ability to modify cells in their microenvironment in favor of tumor growth, and their potential as therapeutic delivery vehicles in the nervous system.