David E. Cobrinik, MD, PhD

Professor of Research Ophthalmology and Cancer Biology

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Overview

Our research seeks to improve understanding of retinal development and its relationship to retinal diseases. This goal stems from my long interest in a childhood retinal tumor called retinoblastoma, a cancer that develops in response to inactivation of the RB1 tumor suppressor gene and loss of functional pRB protein. One of our goals is to understand why cells of the retina but not other tissues routinely form cancers in response to pRB loss, and to use this knowledge to develop more effective therapies for retinoblastoma and other RB1-mutant cancers. We recently found that retinoblastomas arise from cone photoreceptor precursors, and that cone precursor-specific proliferation-related signaling pathways collaborate with pRB loss to enable tumorigenesis. This finding suggests that cone precursors signaling pathways can be targeted to suppress retinoblastoma development. Current studies aim to 1) define developmental signaling pathways that sensitize retinal cells to Rb loss, 2) define the step-by-step events through which Rb loss converts normal retinal cells to malignant retinoblastomas, and 3) target novel vulnerabilities in the pRB-deficient cone precursor circuitry.

With our colleagues at the CHLA Vision Center we also model retinal development and diseases using human pluripotent stem cells. We can produce normal-appearing developing retinas in vitro, opening the door to previously unimagined vision research opportunities. Current efforts aim to define similarities and differences between human retina produced in vitro and in vivo, and to thereby improve the verisimilitude of the in vitro retinal development model.

Awards

  • International Society for Genetic Eye Diseases and Retinoblastoma: The Ellsworth Lecture, 2023
  • James S. McDonnell Foundation: James S. McDonnell Scholar, 1996
     – 1999
  • Susan G. Komen Breast Cancer Foundation: Susan G. Komen Foundation Postdoctoral Fellow, 1992
     – 1995
  • American Cancer Society: ACS Postdoctoral Fellow, 1989
     – 1992
  • American Cancer Society: Joseph S. Silber Pre-doctoral Fellow, 1983
  • Amherst College: Oscar E. Schotté Award for Biological Research, 1982

Education and Training

  • Amherst College, Amherst, MA — BA — 05/1982 — Biology
  • Case Western Reserve University, Cleveland, OH — MD, PhD — 05/1989 — Biochemistry, Medicine
  • Whitehead Institute, Cambridge, MA — Postdoctoral — 1995 — Cancer Biology

Publications

  • Rb suppresses human cone-precursor-derived retinoblastoma tumours. Nature. 2014 Oct 16; 514(7522):385-8.. View in PubMed
  • Recurrent pre-existing and acquired DNA copy number alterations, including focal TERT gains, in neuroblastoma central nervous system metastases. Genes Chromosomes Cancer. 2013 Dec; 52(12):1150-66.. View in PubMed
  • Concurrent loss of the PTEN and RB1 tumor suppressors attenuates RAF dependence in melanomas harboring (V600E)BRAF. Oncogene. 2012 Jan 26; 31(4):446-57.. View in PubMed
  • Critical role of the Rb family in myoblast survival and fusion. PLoS One. 2011 Mar 10; 6(3):e17682.. View in PubMed
  • Tumor-associated retinal astrocytes promote retinoblastoma cell proliferation through production of IGFBP-5. Am J Pathol. 2010 Jul; 177(1):424-35.. View in PubMed
  • Skp2 is required for survival of aberrantly proliferating Rb1-deficient cells and for tumorigenesis in Rb1+/- mice. Nat Genet. 2010 Jan; 42(1):83-8.. View in PubMed
  • Retinoblastoma has properties of a cone precursor tumor and depends upon cone-specific MDM2 signaling. Cell. 2009 Jun 12; 137(6):1018-31.. View in PubMed
  • The retinoblastoma protein and its homolog p130 regulate the G1/S transition in pancreatic beta-cells. Diabetes. 2009 Aug; 58(8):1852-62.. View in PubMed
  • Rb induces a proliferative arrest and curtails Brn-2 expression in retinoblastoma cells. Mol Cancer. 2006 Dec 12; 5:72.. View in PubMed
  • Cell cycle-specific and cell type-specific expression of Rb in the developing human retina. Invest Ophthalmol Vis Sci. 2006 Dec; 47(12):5590-8.. View in PubMed