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Roger H. Reeves, Ph.D.

Headshot of Roger H. Reeves
  • Faculty Director, Transgenic Core Facility
  • Professor of Physiology

Research Interests

Mechanisms of gene action in Down syndrome


Dr. Roger Reeves is a professor of physiology at the Johns Hopkins University School of Medicine. Dr. Reeves is also on faculty at the McKusick-Nathans Institute for Genetic Medicine.

He has studied various aspects of Down syndrome for the last 25 years. He is currently the principal investigator of the Down Syndrome Cognition Project, which researches the combinations of genes in one’s genetic background that might lead to the predisposition for the DS effect to be more or less severe and why development works differently in one has DS than if one does not.

Dr. Reeves and his lab use chromosome engineering in ES cells to create defined dosage imbalance in order to localize the genes contributing to these anomalies and to test directly hypotheses concerning Down syndrome "critical regions" on human chromosome 21.

Dr. Reeves received his B.S. from Bowling Green State University in 1975 and his Ph.D. from the University of Maryland in 1983. His postdoctoral work took place at Johns Hopkins University and he joined the faculty in 1983.

Among other honors, Dr. Reeves was awarded the Sisley-Lejeune Award for Translational Research in Intellectual Disabilities in 2012. more


  • Faculty Director, Transgenic Core Facility
  • Director, Gene Editing Core of Diabetes Research Center
  • Director, Transgenic Core Facility of Diabetes Research Center
  • Professor of Physiology
  • Professor of Genetic Medicine

Departments / Divisions

Centers & Institutes


Additional Training

  • Johns Hopkins University, Baltimore, MD, 1985, Developmental Genetics

Research & Publications

Research Summary

Dr. Reeves and his lab team complement genetic analyses in human beings with the creation and characterization of mouse models to understand why and how gene dosage imbalance disrupts development in DS. Their models then provide a basis to explore therapeutic approaches to amelioration of DS features. They use chromosome engineering in ES cells to create defined dosage imbalance in order to localize the genes contributing to these anomalies and to test directly hypotheses concerning Down syndrome "critical regions" on human chromosome 21.

Dr. Reeves’ lab has developed quantitative phenotypic assays to give a precise and sensitive readout of the relative effects on phenotype when overlapping subsets of genes are at dosage imbalance. Developmental analyses of these traits are underway to identify the timing and location of divergence between trisomic and euploid fetuses.


The Reeves Laboratory has used mouse models to:

  1. Validate epidemiological findings suggesting a lower incidence of cancer in Down syndrome and to identify the candidate genes
  2. Identify direct parallels in the development of the craniofacial skeleton in Down syndrome and trisomic mice
  3. Establish a deficit in cranial neural crest as the (initial) basis for the hypomorphic craniofacial skeleton skeleton
  4. Discover the basis for and potential “treatment” of a fundamental structural deficit in the trisomic brain

Lab Website: Reeves Lab

Selected Publications

View all on PubMed

Haydar, T.F. and R.H. Reeves. “Trisomy and early brain development.” Trends in Neuroscience 35:81-91. 2012.

Li, H., S. Cherry, D. Klinedinst, V. DeLeon, J. Redig, B. Reshey, S.L. Sherman, C. Maslen and R.H. Reeves. “Genetic modifiers predisposing to congenital heart disease in the sensitized Down syndrome population.” Circ: Cardiovasc. Genet. 5(3):301-8. 2012.

Yang, A. and R.H. Reeves. “Ts65Dn "Down syndrome" mice show increased survival in a complex cancer model.” Cancer Res 71(10): 3573-81. 2011.

Starbuck, J.M., R.H. Reeves, J.T. Richtsmeier. “Morphological Integration of Soft-Tissue Facial Morphology in Down Syndrome Individuals and Siblings.” Am. J. Physical 146: 560-568. 2011.

Das, I. and R.H. Reeves. “A crucial role for mouse models to understand and improve cognitive deficits in Down syndrome.” Disease Models and Mechanisms 4:596-606. 2011.

Academic Affiliations & Courses

Graduate Program Affiliation

  • Preceptor/other: 1) Cell and Molecular Physiology - Graduate Advisory Committee (94-96), Curriculum and Rotations Committee, (00- ); 2) Biochemistry, Cell, and Molecular Biology - Policy (90-00), Admissions (88-90) committees; 3) Cell and Molecular Medicine, Policy Committee (04- ); 4) Predoctoral Training Program in Human Genetics - Curriculum, Admissions, Executive committees (91- ).
  • Visiting Scientists/ Mentorships (5 since 1993); Post-doctoral fellows (12 since 1988 including 1 current); Graduate students (18 since 1987 including 5 current)
  • Teaching: Lecturer, "Comparative phenotyping," Div. Comp. Med.; "BioInformatics for comparative genome analysis," HumGen; "The Human Genome," Bloomberg SPH; “Hematopoiesis” and “Neural Crest”, Medical Developmental Biology, JHUSOM; "Mammalian Genetics," BCMB Core Course, Fundamentals of Genetics; Co-director, Advanced Topics in Human Genetics, HumGen/CMM; Instructor/Director, Cold Spring Harbor Laboratory Course, "Positional Cloning: Contig to Candidate Gene," (1995-97)   

Activities & Honors


  • Terence R. Doland Lecture, University of Wisconsin, 2008
  • Funding Futures and Light the Way Awards, DSRTF and RDS, 2013
  • Inaugural lecture, Linda Crnic Institute for Down Syndrome, 2011
  • Theodore D. Tjossem Research Award, National Down Syndrome Congress, 2008
  • Inaugural address, National Down Syndrome Society Educational Series, 2008
  • International Sisley-Lejeune Award for Translational Research in Intellectual Disabilities, 2012

Professional Activities

  • Director, Johns Hopkins School of Medicine, 1991 - 2005

Videos & Media

Play Video:

Improving Cognition in People with Down's Syndrome

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