Dave Valle M.D.

Henry J. Knott Professor and Director of the Institute of Genetic Medicine
Professor, Departments of Pediatrics
Ophthalmology and Molecular Biology & Genetics
Johns Hopkins University School of Medicine
Institute of Genetic Medicine

733 N Broadway
Broadway Research Building, 519
Baltimore, MD 21287
Phone: 410-955-4260
Fax: 410-955-7397
E-mail: dvalle@jhmi.edu

In the broadest sense, my research interests include understanding all aspects of the contribution of genetic variation to 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 on the network interactions and consequences of variation in the genes and proteins implicated in human disease.

More specifically, we have focused on a wide variety of monogenic disorders and, more recently, on the genetic factors that contribute increased susceptibility for neuropsychiatric diseases such as schizophrenia.

Currently, we are using genomic (whole exome and whole genome sequencing) and genetic approaches for identifying the variants and genes responsible for rare Mendelian disorders that are referred to us from healthcare providers from around the world. This activity derives from my role as Principle Investigator for the Baylor-Hopkins Center for Mendelian Genomics, an NIH funded project to find and “solve” as many Mendelian disorders as possible. For a subset of these disorders, we study the functional consequences and disease mechanisms more deeply using a variety of experimental approaches including cellular and whole organism models (zebrafish, mice) to understand disease pathobiology and evaluating possible treatment strategies.

The ultimate goal of this effort will be to synthesize the knowledge gained about each rare disorder into a deeper and much more informed understanding of the relationships between genotype and phenotype and from that knowledge develop a richer understanding of human disease mechanisms and what we can do to prevent or treat disease.

Selected Publications: 



  1. Human disease genes.,
    Jimenez-Sanchez, G, Childs B, and Valle D
    , Nature, 2001 Feb 15, Volume 409, Issue 6822, p.853-5, (2001)
  2. Fine mapping on chromosome 10q22-q23 implicates Neuregulin 3 in schizophrenia.,
    Chen, Pei-Lung, Avramopoulos D, Lasseter Virginia K., McGrath John A., M Fallin Daniele, Liang Kung-Yee, Nestadt Gerald, Feng Ningping, Steel Gary, Cutting Andrew S., et al.
    , Am J Hum Genet, 2009 Jan, Volume 84, Issue 1, p.21-34, (2009)
  3. "Genes to society"--the logic and process of the new curriculum for the Johns Hopkins University School of Medicine.,
    Wiener, Charles M., Thomas Patricia A., Goodspeed Elizabeth, Valle David, and Nichols David G.
    , Acad Med, 2010 Mar, Volume 85, Issue 3, p.498-506, (2010)
  4. Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.,
    Sobreira, Nara L. M., Cirulli Elizabeth T., Avramopoulos D, Wohler Elizabeth, Oswald Gretchen L., Stevens Eric L., Ge Dongliang, Shianna Kevin V., Smith Jason P., Maia Jessica M., et al.
    , PLoS Genet, 2010 Jun, Volume 6, Issue 6, p.e1000991, (2010)
  5. MicroRNA (miRNA) transcriptome of mouse retina and identification of a sensory organ-specific miRNA cluster.,
    Xu, Shunbin, P Witmer Dane, Lumayag Stephen, Kovacs Beatrix, and Valle David
    , J Biol Chem, 2007 Aug 24, Volume 282, Issue 34, p.25053-66, (2007)
  6. Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.,
    Weller, Sabine, Cajigas Ivelisse, Morrell James, Obie Cassandra, Steel Gary, Gould Stephen J., and Valle David
    , Am J Hum Genet, 2005 Jun, Volume 76, Issue 6, p.987-1007, (2005)
  7. Functional variants in DPYSL2 sequence increase risk of schizophrenia and suggest a link to mTOR signaling.,
    Liu, Yaping, Pham Xuan, Zhang Lilei, Chen Pei-Lung, Burzynski Grzegorz, McGaughey David M., He Shan, McGrath John A., Wolyniec Paula, Fallin Margaret D., et al.
    , G3 (Bethesda), 2014 Jan, Volume 5, Issue 1, p.61-72, (2014)
  8. Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.,
    Hoover-Fong, Julie, Sobreira Nara, Jurgens Julie, Modaff Peggy, Blout Carrie, Moser Ann, Kim Ok-Hwa, Cho Tae-Joon, Cho Sung Yoon, Kim Sang Jin, et al.
    , Am J Hum Genet, 2014 Jan 2, Volume 94, Issue 1, p.105-12, (2014)
  9. PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features.,
    Hamosh, Ada, Sobreira Nara, Hoover-Fong Julie, V Sutton Reid, Boehm Corinne, Schiettecatte François, and Valle David
    , Hum Mutat, 2013 Apr, Volume 34, Issue 4, p.566-71, (2013)
  10. Evolution in health and medicine Sackler colloquium: Making evolutionary biology a basic science for medicine.,
    Nesse, Randolph M., Bergstrom Carl T., Ellison Peter T., Flier Jeffrey S., Gluckman Peter, Govindaraju Diddahally R., Niethammer Dietrich, Omenn Gilbert S., Perlman Robert L., Schwartz Mark D., et al.
    , Proc Natl Acad Sci U S A, 2010 Jan 26, Volume 107 Suppl 1, p.1800-7, (2010)
  11. The human disease network.,
    Goh, Kwang-Il, Cusick Michael E., Valle David, Childs Barton, Vidal Marc, and Barabási Albert-László
    , Proc Natl Acad Sci U S A, 2007 May 22, Volume 104, Issue 21, p.8685-90, (2007)