Member Spotlight: Santhi Ganesh

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Member Spotlight: Santhi Ganesh

Precision Health member Santhi K. Ganesh, MD is the David J Pinsky M.D. Endowed Professor in Cardiovascular Medicine, an Associate Professor of Internal Medicine as well as an Associate Professor of Human Genetics at University of Michigan Medical School.

Dr. Ganesh is also the Director of the Michigan Biological Research Initiative on Sex Differences (M-BRISC). M-BRISC is holding its 2nd Annual Scientific Symposium this Friday, Feb 24th; learn more here

When she is not in research-mode, Dr. Ganesh derives tremendous satisfaction from caring for patients with cardiovascular disease, advocating, and mentoring.

February is Black History Month and Heart Health month; Can you share any information on Heart Health in relation to the Black/African-American community?
It is absolutely correct that social determinants of health are a leading cause of disparities in cardiovascular disease. According to the U.S. Department of Health and Human Services, African Americans are 30% more likely to die from heart disease than non-Hispanic white individuals. Certain diseases have even greater disparity, for example cardiovascular diseases in pregnancy.

Tell us a bit more about the details of your Heart/Cardiovascular-focused research, and where your particular interest lies
My research program is focused on the genetics of cardiovascular diseases. In particular, the vascular diseases I study, including hypertension, fibromuscular dysplasia, and spontaneous coronary artery dissection, have differences in disease patterns according to biologic sex, and disproportionately burden women.

What is innovative/new/exciting about these projects?
Arterial fibrodysplasia underlies a form of vascular disease that has historically been under-diagnosed, and under-investigated. Once thought to be rare, the prevalence of fibromuscular dysplasia is currently estimated to be 3.3% of the US population. Arterial events such as spontaneous dissections are increasingly recognized as well, with spontaneous coronary artery dissection increasingly diagnosed in young women who lack “traditional” risk factors for cardiovascular disease. Our ongoing genetic investigations have uncovered complex genetic factors underlying these diseases, with a range of genetic effects and mechanisms. Leveraging these results, we have identified new relationships between several cardiovascular diseases that demonstrate sex-based prevalence, such as stroke, hypertension, myocardial infarction, and others.

What is the anticipated outcome of this research?
A key limitation in the field currently is the lack of molecular and mechanistic understanding of these highly related diseases; accordingly, in the clinic, we lack diagnostic modalities other than angiographic imaging which is challenging to implement systematically, prognostic tools, and treatments aimed at the arterial pathology. In contrast to atherosclerotic vascular disease, which leads to similar manifestations of organ damage and has several well-defined, targetable drivers of disease, each of which has several treatment strategies, there is nothing of this kind for arterial fibrodysplasia. By defining the genetic underpinnings, we hope to contribute to earlier recognition of disease and gain biological understanding necessary to develop effective treatments.  By understanding sex differences for these diseases, we anticipate we will have a window into broader sex-based disparities for both rare and common cardiovascular conditions.

How is Precision Health is supporting this research?
Our research has benefited greatly from Precision Health at the University of Michigan. We have accessed data from the Michigan Genomics Initiative (MGI) to incorporate into our genetic studies, and have a well established pipeline for this work. We have worked with Precision Health investigators to coordinate our case sample genotyping, deployment of new methods for our research, and dissemination of results of the research. It is truly a fantastic resource.

How does your Cardiovascular disease-related work apply to the field of precision health?
The role of sex-specific biological mechanisms of cardiovascular diseases has been vastly under-studied. By addressing sex differences and under-investigated topics related to CVD in women, we aim to overcome sex-based disparities in CVD.

Links to key publications and research insights:
Ganesh Lab website
M-BRISC website