# Genetic and Mechanistic Study of Cerebral Small Vessel Disease

> **NIH NIH R01** · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · 2020 · $614,451

## Abstract

Abstract
Strokes account for one out of every 19 deaths in the United States and the cost for cardiovascular disease
and strokes in 2009 was $312 billion dollars (compared to $228 billion for all cancers). Cerebral small vessel
diseases (SVD) account for up to 30% of strokes and are a leading cause of age-related cognitive decline and
disability. Rare mutations in the genes encoding collagen type IV alpha 1 (COL4A1) cause inherited SVD
including leukoaraiosis, subcortical microbleeds, porencephaly, intracranial aneurysms, enlarged perivascular
spaces, lacunar infarctions and hemorrhagic strokes. Common COL4A1 variants have been associated
intracranial aneurysms, arterial calcification, deep intracerebral hemorrhages, lacunar ischemic stroke, reduced
white matter volume and leukoencephalopathy. How COL4A1 mutations cause SVD is unknown and
represents a significant gap in our current knowledge. This proposal represents an integrated and holistic
approach to understand SVD pathogenesis. The goal of our diverse team is to identify novel SVD etiologies
and pathogenic mechanisms that can be targeted to prevent, delay or reduce damage from SVD. Our specific
focus is on the intracellular and extracellular consequences of COL4A1 mutations, yet, we also have the
potential to identity novel SVD subclasses and break open unrelated areas of research.

## Key facts

- **NIH application ID:** 9979964
- **Project number:** 5R01NS096173-04
- **Recipient organization:** UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
- **Principal Investigator:** Douglas Gould
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $614,451
- **Award type:** 5
- **Project period:** 2017-09-01 → 2022-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9979964

## Citation

> US National Institutes of Health, RePORTER application 9979964, Genetic and Mechanistic Study of Cerebral Small Vessel Disease (5R01NS096173-04). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/9979964. Licensed CC0.

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