Douglas R. Stewart, M.D.

Senior Investigator

Clinical Genetics Branch


9609 Medical Center Dr.
Room SG/6E450
Rockville, MD 20850

+1 240 276 7238

Research Topics

Dr. Douglas Stewart is continuing data analysis from two protocols from his time at the National Human Genome Research Institute (NHGRI): "Variation in Gene Expression in Neurofibromatosis Type 1" (05-HG-0152), which seeks to identify genetic modifiers of NF1 and "Natural history and biology of dermal neurofibromas in neurofibromatosis type 1" (06-HG-0134), which uses novel methods to characterize neurofibroma growth in NF1. He is developing new protocols investigating whole-genome sequencing of benign and malignant tumors in NF1 and the genetics of radiation sensitivity.

Dr. Stewart is recruiting participants for the Pleuropulmonary Blastoma (PPB) DICER1 Cancer Study, an observational study of children with PPB and their families. The study will help researchers define the tumor types and risks associated with the DICER1 syndrome. Dr. Stewart hopes to identify other genes that may play a role in this syndrome. He also would like to understand why some mutation carriers develop cancer while others remain healthy.


Dr. Stewart received his M.D. from the University of Pennsylvania School of Medicine in 1998. He completed a residency in internal medicine at the Hospital of the University of Pennsylvania in 2001 and training in medical genetics at the Children’s Hospital of Philadelphia in 2004. He is board-certified in both internal medicine and clinical genetics. He had postdoctoral training in genetics in the laboratory of Richard Spielman at Penn from 2002-2004. In 2004 he joined the National Human Genome Research Institute as part of the Physician Scientist Development Program to investigate the monogenic tumor predisposition syndrome neurofibromatosis type 1 (NF1). In recognition for his work in NF1, he was named one of NIH’s first Earl Stadtman Investigators when he joined the National Cancer Institute’s Clinical Genetics Branch in the summer of 2010. He was awarded NIH scientific tenure and promoted to senior investigator in 2019. His major research interests are the adult manifestations of RAS-pathway disorders (especially NF1 and Legius syndrome), next generation sequencing of NF1-associated tumors and the characterization of novel features of NF1. Dr Stewart was responsible for the early detailed characterization of the chromosome 9q sub-telomeric deletion syndrome (now Kleefstra syndrome) and the recognition (with Eric Legius, Leuven Belgium) of glomus tumors as part of the NF1 tumor spectrum. Dr. Stewart is also study director/principal investigator for the Pleuropulmonary Blastoma (PPB) DICER1 Cancer Study.

Selected Publications

  1. Pemov A, Sung H, Hyland PL, Sloan JL, Ruppert SL, Baldwin AM, Boland JF, Bass SE, Lee HJ, Jones KM, Zhang X, NISC Comparative Sequencing Program., Mullikin JC, Widemann BC, Wilson AF, Stewart DR. Genetic modifiers of neurofibromatosis type 1-associated café-au-lait macule count identified using multi-platform analysis. PLoS Genet. 2014;10(10):e1004575.
  2. Pathak A, Seipel K, Pemov A, Dewan R, Brown C, Ravichandran S, Luke BT, Malasky M, Suman S, Yeager M, NCI DCEG Cancer Genomics Research Laboratory., NCI DCEG Cancer Sequencing Working Group., Gatti RA, Caporaso NE, Mulvihill JJ, Goldin LR, Pabst T, McMaster ML, Stewart DR. Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family. Haematologica. 2016;101(7):846-52.
  3. Stewart DR, Messinger Y, Williams GM, Yang J, Field A, Schultz KA, Harney LA, Doros LA, Dehner LP, Hill DA. Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder. Hum Genet. 2014;133(11):1443-50.
  4. Messinger YH, Stewart DR, Priest JR, Williams GM, Harris AK, Schultz KA, Yang J, Doros L, Rosenberg PS, Hill DA, Dehner LP. Pleuropulmonary blastoma: a report on 350 central pathology-confirmed pleuropulmonary blastoma cases by the International Pleuropulmonary Blastoma Registry. Cancer. 2015;121(2):276-85.
  5. Dewan R, Pemov A, Kim HJ, Morgan KL, Vasquez RA, Chittiboina P, Wang X, Chandrasekharappa SC, Ray-Chaudhury A, Butman JA, Stewart DR, Asthagiri AR. Evidence of polyclonality in neurofibromatosis type 2-associated multilobulated vestibular schwannomas. Neuro Oncol. 2015;17(4):566-73.

Related Scientific Focus Areas

This page was last updated on Thursday, April 4, 2024