About David Sweetser, MD, PhD

Dr. Sweetser graduated with Honors from Stanford University, then completed his MD/PhD at Washington University School of Medicine in St. Louis, and Pediatric Residency training at St. Louis Children's Hosp. He completed his Medical Genetics Fellowship training at the Washington University School of Medicine in St. Louis and the University of Washington in Seattle along with a Biochemical Genetics Fellowship. He subsequently completed a Fellowship in Pediatric Hematology/Oncology at the University of Washington in Seattle. He is Board Certified in Clinical Genetics and Genomics, Clinical Biochemical Genetics, as well as Pediatric Hematology-Oncology.

Since 2003 Dr. Sweetser has been at MGH and sees patients in Medical Genetics and Metabolism and Pediatric Hematology/Oncology. He specializes in children and adults with metabolic disease, neurodevelopment disorders, complex undiagnosed disorders as well as those with inherited hematological disorders and children with genetic disorders predisposing to malignancies. He has been Chief of Medical Genetics and Metabolism at MGH since 2011 and was awarded the Lewis and Leslie Holmes Endowed Chair in Genetics and Teratology in 2017. He is Co-Director of the Pitt Hopkins Clinic, MGH Site Director of the Harvard Medical School Genetics Training program, Co-Director of the Harvard Medical School Affiliated Hospitals NORD Rare Disease Center of Excellence and a Primary Investigator in the MGH Center for Cancer Research. Dr. Sweetser is also the MGH site director for the NIH sponsored Undiagnosed Diseases Network linking 11 medical centers around the country to accelerate discovery and innovation in the way we diagnose and treat patients with previously undiagnosed diseases. He has been a leader in the application of genomic sequencing to clinical diagnostics and expanding clinical genomic applications throughout MGH. He has contributed to the discovery of numerous new genetic diseases.

Dr. Sweetser runs a research lab in the Center for Genomic Medicine and MGH Cancer Center investigating several genetic disorders including Pitt Hopkins Syndrome, IQSEC2 -related disorder, CACNA1E epileptic encephalopathy, as well as leukemia. He has systematically generated and characterized patient derived induced pluripotent stem cell (iPSC) models of several inherited monogenic causes of intellectual disability and neurodevelopmental disorders developing phenotypic assays amenable to drug screening to precision targeted therapeutics.

Clinical Interests:



Mass General Brigham Healthcare Center
102-104 Endicott St.
Danvers, MA 01923
Phone: 978-882-6999

Mass General for Children: Pediatric Hematology & Oncology
55 Fruit St.
Yawkey Center for Outpatient Care
Suite 8B
Boston, MA 02114
Phone: 617-726-2737

Mass General for Children: Genetics Program
55 Fruit St.
Suite 6C
Boston, MA 02114
Phone: 617-726-1561

Medical Education

  • MD, Washington University
  • Residency, Children's Hospital of St. Louis
  • Fellowship, Univ. Washington School of Medicine
  • Fellowship, University Of Washington
  • Fellowship, Washington University

American Board Certifications

  • Clinical Biochemical Genetics, American Board of Internal Medicine
  • Clinical Genetics and Genomics, American Board of Internal Medicine
  • Pediatric Hematology-Oncology, American Board of Pediatrics
  • Pediatrics, American Board of Pediatrics

Accepted Insurance Plans

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The Sweetser laboratory has research projects in leukemia and medical genetics. His leukemia research seeks to understand how malignancies develop and are sustained with the goal of developing novel, safer, and more effective therapies. His laboratory identified the Groucho/TLE family of co-repressors function as potent tumor suppressors of acute myeloid leukemia and defined their roles in normal development and cell function. Knock-out mice for Tle1 and Tle4 have identified critical roles for these proteins in hematopoiesis, bone, lung, and brain development, as well as a critical role in limiting inflammation. His laboratory defined critical inflammatory signaling pathways mediating cell proliferation and synergistic cross talk within the cancer niche. His current work is aimed at defining the role of microRNAs in leukemia and as potential therapeutics.

As a faculty member in the Center for Genomic Medicine Dr. Sweetser is leading a group of clinicians and researchers actively engaged in elucidating the underlying basis of a wide variety of human diseases. His work is aimed at new gene discovery for patients with diagnostic dilemmas as well as focused work using patient derived stem cell models to understand the development of several neurodevelopmental disorders. These including Pitt Hopkins syndrome, IQSEC2-related disorder, CACNA1E epileptic encephalopathy and CELF2-related disorders. These stem cell models are also being used for the development of targeted therapeutics. Dr. Sweetser also maintains registries and have developed Natural History Studies of Pitt Hopkins Syndrome and IQSEC2-related disorder.


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