Jeremiah Scharf, MD, PhD

Physician Investigator (Cl)
Center for Genomic Medicine, Mass General Research Institute
Director, Tic Disorders Unit
Neurology, Massachusetts General Hospital
Assistant In Neurology
Massachusetts General Hospital
Research Faculty
Psychiatry, Massachusetts General Hospital
Assistant Professor of Neurology
Harvard Medical School
Associate Member
Broad Institute
MD Harvard Medical School/ BWH 2001
M.D.; Ph.D. Harvard Medical School 2001
adhd; attention deficit and hyperactivity disorder; attention deficit disorder with hyperactivity; autism spectrum disorder; basal ganglia; child development; cortico-striatal circuitry; dna copy number variations; gene-environment interactions; genetic predisposition to disease; genome-wide association study; neurodevelopmental disorders; neuropsychiatric disorders; obsessive compulsive disorder; obsessive-compulsive disorder; ocd; polygenic risk scores; quantitative trait heritable; tic disorders; tourette syndrome; whole exome sequencing; whole genome sequence data

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 as well as cross-disorder analyses with other neuropsychiatric disorders through the Psychiatric Genomics Consortium (PGC)
  • 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 and genome 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.
  • Preliminary studies of TS- and OCD-derived neurons generated from induced pluripotent stem cells

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 Association of America International Consortium for Genetics (TAAICG) Steering Committee, serves on the TAA Scientific Advisory Board, and is principal investigator of the multi-center  TAAICG NINDS R01 grant and the PGC TS GWAS R01 from the NINDS. Dr. Scharf is also Director of the Partners Neurology Tic Disorders Clinic and Co-Director of the TAA TS Center of Excellence, which currently sees over 100 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.

Research lab website Lab Website Publications Clinical Profile
Center for Genomic Medicine
Simches Building
185 Cambridge Street
Boston, MA 02114-2790