David Lee Valle, M.D.

Headshot of David Lee Valle
  • Henry J. Knott Professor
  • Professor of Genetic Medicine


Medical Genetics

Research Interests

Clinical, biochemical, and molecular bases of disease; Genetic factors in neuropsychiatric disease; Inborn errors of metabolism; Medical sequencing, genome sequencing and comparative genomics ...read more

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The Johns Hopkins Hospital (Main Entrance)

Appointment Phone: 410-955-3071
1800 Orleans St.
Sheikh Zayed Tower
Baltimore, MD 21287 map
Phone: 410-955-4260 | Fax: 410-955-7397


Dr. David Valle is a professor of pediatrics and ophthalmology at the Johns Hopkins School of Medicine and former director of the Johns Hopkins Department of Genetic Medicine. He also serves as a geneticist for the Johns Hopkins Children’s Center.

Dr. Valle holds a bachelor’s degree and medical degree from Duke University. He completed a pediatric residency at Johns Hopkins University before joining the Johns Hopkins faculty. 

He is interested in the genetic contributions to health and disease. He is the founding director of the Johns Hopkins Center for Inherited Disease Research. Over the years, his laboratory has discovered the genetic causation for more than 20 diseases, including those responsible for inborn errors of metabolism, inherited retinal degeneration, disorders of cellular organelle biogenesis and genetic variations that contribute risk for common disorders such as schizophrenia.

Dr. Valle also serves as director of the Predoctoral Training Program in Human Genetics, as well as co-director of the Genes to Society program. He was a 2014 recipient of the annual Victor A. McKusick Leadership Award from the American Society of Human Genetics, which recognizes individuals whose professional achievements have fostered and enriched the development of human genetics as well as its assimilation into the broader context of science, medicine and health.

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  • Henry J. Knott Professor
  • Professor of Genetic Medicine
  • Joint Appointment in Molecular Biology and Genetics
  • Professor of Medicine
  • Professor of Ophthalmology
  • Professor of Pediatrics

Departments / Divisions

Centers & Institutes



  • MD; Duke University School of Medicine (1969)


  • Pediatrics; Johns Hopkins University School of Medicine (1971)
  • Pediatrics; Johns Hopkins University School of Medicine (1975)

Board Certifications

  • American Board of Medical Genetics and Genomics (Clinical Biochemical Genetics) (1982)
  • American Board of Medical Genetics and Genomics (Clinical Genetics (MD)) (1982)
  • American Board of Pediatrics (Pediatrics) (1978)

Research & Publications

Research Summary

In the broadest sense, my research interests include understanding all aspects of the role of genetic factors in human health and disease. In particular, our studies involve clinical, biochemical, molecular and therapeutic aspects of specific human genetic diseases as well as more global studies of the network interactions and consequences of the genes and proteins implicated in human disease.

In the past, our lab has focused primarily on rare monogenic disorders including inborn errors of amino acid metabolism as well as various human retinal degenerations. For example, we have conducted extensive molecular, biochemical and structural studies of the enzymes of proline and ornithine metabolism defining the biochemical and molecular bases of several. Most notably, we showed that deficiency of ornithine-delta-aminotransferase (OAT) causes a blinding, chorioretinal degeneration known as gyrate atrophy of the choroid and retina (GA). We also produced a knockout mouse deficient in OAT, showed that it develops a retinal degeneration and used this model to develop and validate treatments. Similarly, we are interested in inborn errors of biogenesis and function of the peroxisome, a ubiquitous sub-cellular organelle whose protein components participate in numerous metabolic pathways. Using a variety of strategies, we identified the genes responsible for several (>10) genetic disorders of peroxisomal biogenesis (e.g. Zellweger syndrome). We also have a special interest in peroxisomal ABC transporters and have produced knockout mice for the genes encoding some of these to elucidate the function of these transporters and their role in human genetic disease.

Recently, we have focused most of our efforts on understanding the genetic contribution to neuropsychiatric disease, especially schizophrenia. Working together with our collaborators Ann Pulver, Dimitri Avramopoulos and Gerry Nestadt, we have utilized a variety of whole genome approaches to search for genetic variants contributing risk for these disorders. Currently we are performing extensive studies of the genes in 10q22-23 and 8p21; we have found both linkage and association evidence for one or more schizophrenia susceptibility genes in both these regions. Our studies include extensive high throughput genotyping and sequencing, functional evaluation of coding variants and variants in candidate regulatory sequences and development and characterization of mouse models for the strongest candidates. The overall all goals of these studies are to identify the genes and the causative variants contributing risk and to use this information to identify key biological systems involved in the causation and pathophysiology of these disorders. We will use this information to search for additional risk genes and environmental variables as well as for the rational development of therapies.

Selected Publications

View all on PubMed

Florwick A, Dharmaraj T, Jurgens J, Valle D and Wilson KL: LMNA sequences of 60,706 unrelated individuals reveal 132 novel missense variants in A-type lamins and suggest a link between variant p.G602S and type 2 diabetes.  Front Genet 8: 79, 2017

You J, Sobreira NL, Gable DL, Jurgens J, Grange DK, Belnap N, Siniard A, Szelinger S, Schrauwen I, Richholt RF, Vallee SE, Dinulos MBP, Valle D, Armanios M, Hoover-Fong J: A syndromic, intellectual disability disorder caused by variants in TELO2, a gene encoding a component of the TTT complex.  Am J Hum Genet 98: 909-918, 2016

Boeke JD, Church G, Hessel A, Kelley NJ, Arkin A, Cai Y, Carlson R, Chakravarti A, Cornish Vw, Holt L, Isaacs FJ, Kulken T, Lajoie M, Lessor T, Lunshof J, Maurano MT, Mitchell LA, Rine J, Rosser S, Sanjana NE, Silver PA, Valle D, Wang H, Way JC and Yang L: The Genome Project – Write.  Science 10.1126/science.aaf6850, 2016

Sobreira NL and Valle D: Lessons learned from the search for genes responsible for rare Mendelian disorders.  Mol Genet Genomic Med 4: 371-375, 2016

Zeledon M, Taub M, Eckart N, Vernon H, Szymanski M, Wang R, Chen P-L, Nestadt G, McGrath JA, Sawa A, Pulver AE, Avaramopoulos D and Valle D: Identification and functional studies of regulatory variants responsible for the association of NRG3 with a delusion phenotype in schizophrenia.  Mol Neuropsych 1: 36-46, 2015. 

Contact for Research Inquiries

Johns Hopkins University School of Medicine
Institute of Genetic Medicine
733 N Broadway
Baltimore, MD 21287 map
Phone: 410-955-4260

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Academic Affiliations & Courses

Courses and Syllabi

  • Advanced Topics in Human Genetics
  • Evolution of the Concept of the Gene
  • Scientific Foundations of Medicine

Activities & Honors


  • Victor A. McKusick Leadership Award, American Society of Human Genetics, 2014
  • Elected, Association of American Physicians


  • American Association for the Advancement of Science
  • American College of Medical Genetics 
  • American Federation for Clinical Research
  • American Pediatrics Society
  • American Society of Clinical Investigation 
  • American Society of Human Genetics 
    Past president
  • European Society of Human Genetics 
  • Genetics Society of America
  • Human Genome Organization 
  • Institute of Medicine of the National Academy of Sciences
  • Society for Inherited Metabolic Disorders 
  • Society for Pediatric Research 
  • Society for the Study of Inborn Errors of Metabolism 

Professional Activities

  • Past Member, Large Scale Sequencing Committee, National Human Genome Research Institute
  • Past Member, Large Scale Sequencing Advisory Committee, National Human Genome Research Institute
  • Past president, American Society of Human Genetics

Videos & Media

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    Part II, Training the Next Generation of Physicians

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    Part III, Training the Next Generation of Physicians

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    Part IV, Training the Next Generation of Physicians

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