Assistant Professor of Neurology at Harvard Medical School
Psychiatric and Neurodevelopmental Genetics Unit
Center for Human Genetic Research
Massachusetts General Hospital
Richard B. Simches Research Center
185 Cambridge Street
Boston, MA 02114
Dr. Scharf is a behavioral neurologist and neuropsychiatric geneticist who works at the interface between neurology and psychiatry, employing genetics and clinical research tools to investigate the etiology and pathogenesis of Tourette Syndrome (TS) and related disorders as model neuropsychiatric illnesses. The research lab is focused on genetic and non-genetic factors that predispose individuals to TS and its common co-morbidities, specifically obsessive-compulsive disorder (OCD) and attention-deficit hyperactivity disorder (ADHD).
Current genetics projects include:
- Genome-wide association studies (GWAS) of TS and OCD
- Copy-number variant (CNV) analyses evaluating the role of large, rare deletions/duplications in TS pathogenesis
- Whole-exome and targeted sequencing of large, multi-generational TS families to identify rare mutations of large effect
- Exome sequencing of smaller nuclear families (parent-proband trios) without a positive family history of TS or OCD to identify spontaneous de novo coding mutations
- Application of newer statistical approaches to estimate the aggregate genetic burden across TS subjects to examine whether increased genetic loading correlates with different clinical measures of disease severity and prognosis.
Current clinical research projects include:
- Co-leadership of an ongoing nation-wide genetic collection of new TS subjects, including a web-based collection project to augment traditional high-cost ascertainment through specialty clinics.
- Web-based longitudinal follow-up of research participants assessing ongoing disease severity and the role of stress and adverse life events
- Phenotypic analyses of TS examining the developmental trajectory of TS across the lifespan
- Clinical predictors of tic persistence and severity in adulthood
- Predictors of TS-associated comorbidities
- Recruitment of new TS and OCD subjects for collection of blood samples and coordination of skin biopsies for a subset of subjects to generate induced pluripotent stem cells (iPSCs) that can be used to generate patient-specific TS/OCD neurons for in vitro functional studies.
- We are also launching a clinical research study of electronic health records using novel data-mining methods to identify prenatal and perinatal risk factors for these conditions.
Dr. Scharf is the co-chair of the Tourette Syndrome Association International Consortium for Genetics (TSAICG) Steering Committee, serves on the TSA Scientific Advisory Board, and is principal investigator of the TSAICG multi-center U01 grant from the NINDS. Dr. Scharf is also Co-Director of the Partners Neurology Tic Disorders Clinic, which currently sees over 75 new cases a year and provides comprehensive clinical assessments and ongoing management of TS patients referred from local, regional, national, and international sources. These patients also contribute to ongoing clinical and genetic research projects.
Cornelia Illmann, Ph.D.
Caitlin Gauvin, BS
Clinical Research Coordinator
Dongmei Yu, MS
Erica Greenberg, MD
Pediatric Psychiatry Fellow at Massachusetts General Hospital
Sarah Weatherall, BA
Research Lab Technician
Former Position: Laboratory Technician
Current Position: Medical Student, Tufts University School of Medicine
Former Position: Clinical Research Assistant
Current Position: Graduate Student, Boston College
Former Position: Research Lab Technician
Current Position: Medical Student, Robert Wood Johnson Medical School
Former Position: Senior Clinical Research Assistant
Current Position: Clinical Research Coordinator, MGH Stroke Research Center
Lauren McGrath, PhD
Former Position: Postdoctoral Fellow
Current Position: Assistant Professor, Department of Psychology, American University
Paul Lee, M.D.
Former Position: Postdoctoral Fellow
Current Position: Staff Psychiatrist, Department of Defense, Honolulu, HI
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