Douglas Gould, PhD

Professor
Department of Ophthalmology
Department of Anatomy
Institute for Human Genetics
+1 415 476-3592
Research Overview: 

The broad mission of the Gould lab is to understand the biological functions of basement membranes – specialized sheets of extracellular matrix present in every organ. Our primary focus is a multi-system disorder that is caused by mutations in the genes encoding type IV collagen alpha 1 (COL4A1) and COL4A2. Our goal is to understand the tissue-specific molecular mechanisms that underlie this syndrome and develop mechanism-based therapies that can prevent, reduce or delay disease in patients.

Primary Thematic Area: 
Vascular & Cardiac Biology
Secondary Thematic Area: 
Developmental & Stem Cell Biology
Research Summary: 
Genetic Dissection of Extracellular Matrix in Development and Disease

Websites

Featured Publications: 

Type IV Collagens and Basement Membrane Diseases: Cell Biology and Pathogenic Mechanisms.

Current topics in membranes

Mao M, Alavi MV, Labelle-Dumais C, Gould DB

Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in Col4a1 Mutant Mice.

Investigative ophthalmology & visual science

Mao M, Smith RS, Alavi MV, Marchant JK, Cosma M, Libby RT, John SW, Gould DB

Allosteric inhibition of the IRE1a RNase preserves cell viability and function during endoplasmic reticulum stress.

Cell

Ghosh R, Wang L, Wang ES, Perera BG, Igbaria A, Morita S, Prado K, Thamsen M, Caswell D, Macias H, Weiberth KF, Gliedt MJ, Alavi MV, Hari SB, Mitra AK, Bhhatarai B, Schürer SC, Snapp EL, Gould DB, German MS, Backes BJ, Maly DJ, Oakes SA, Papa FR

Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations.

Human molecular genetics

Kuo DS, Labelle-Dumais C, Mao M, Jeanne M, Kauffman WB, Allen J, Favor J, Gould DB

COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.

PLoS genetics

Labelle-Dumais C, Dilworth DJ, Harrington EP, de Leau M, Lyons D, Kabaeva Z, Manzini MC, Dobyns WB, Walsh CA, Michele DE, Gould DB