Santhi Ganesh
University of Michigan, MI·Genetics
Fibromuscular dysplasia (FMD) is a disease of the artery wall that is not caused by fatty plaque buildup. Arteries can narrow, balloon outward, tear, or twist.
- Fields
Genetics
Medicine & Clinical Research
Physiology
- Topics
fibromuscular dysplasia
arterial dysplasia
arterial dissection
- Grants
- 1 known grant, through Jan 2029
What they work on
- Define the range of genetic variants underlying arterial fibrodysplasia using high-throughput targeted gene sequencing of patients with fibromuscular dysplasia (FMD) from clinical and biorepository collections.
- Test how candidate genes and variants alter the smooth muscle cells and surrounding matrix of the artery wall, using vascular cell models and mouse models.
- Resolve variants of uncertain significance and test the influence of potential modifier genes through mechanistic experiments in cell and mouse systems.
- Determine how biological sex and gene regulation shape arterial remodeling, to explain why dysplasia-associated arterial diseases mostly affect women.
More about the research
Depending on which arteries are affected, FMD can lead to high blood pressure, stroke or heart attack. Related arterial diseases may affect 1–4% of people in the U.S., and they most often strike women. The genetic causes are mixed: some cases involve many genes with small effects, some involve rare inherited variants, and others may involve modifier genes that change how severe the disease is. The genes found so far point to smooth muscle cells in the artery wall and the extracellular matrix, the supportive scaffold around those cells.
Why it matters
FMD can cause hypertension, stroke and heart attack, and it mostly affects women. Identifying the genes involved and how they damage the artery wall could improve genetic diagnosis, including interpretation of uncertain variants. It could also support prevention and new treatment strategies for these arterial diseases.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
William Durante
University of Missouri-Columbia, MO·Physiology
Determine how glutaminase-1 (GLS1), an enzyme that converts glutamine to glutamate and ammonia, controls the growth, migration, collagen production and survival of vascular smooth muscle cells, using GLS1 gene delivery and tests of each breakdown product.
Dogukan Mizrak
University of Michigan, MI·Medicine & Clinical Research
Define the molecular triggers and downstream effects of CART signaling in human aortic smooth muscle cells in vitro, testing whether it drives wall remodeling and medial calcification, mineral buildup that stiffens the artery.
Yujun Cai
Yale University, CT·Pharmacology
Investigate how PDE10A drives vascular smooth muscle cells exposed to high phosphate to turn into bone-like cells and calcify, using PDE10A knockdown and inhibition in cultured cells and PDE10A-deficient animals.
The school
University of Michigan: 124 labs on PI Pages, $2.1B a year on research, 963 research doctorates a year.
Reach out
A start for your email. Fill in the brackets.