
Professor
Department of Ophthalmology
Department of Anatomy
Institute for Human Genetics
Primary Thematic Area
Secondary Thematic Area
Research Summary
Genetic Dissection of Extracellular Matrix in Development and Disease
Mentorship Development
12/2020 - Setting Expectations with a "Welcome to the Lab' Letter (Parts 1 and 2)
5/2021 - Sharpening your Mentoring Skills (SyMS)
+1 415 476-3592
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.
Websites
Publications
Type IV Collagens and Basement Membrane Diseases: Cell Biology and Pathogenic Mechanisms.
Current topics in membranes
Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in Col4a1 Mutant Mice.
Investigative ophthalmology & visual science
Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations.
Human molecular genetics