Tags: research and discovery

Dr. Sekar Kathiresan and his team of investigators, Pradeep Natarajan, MD, and research coordinator Erina Kii in the Center for Human Genetic Research at Massachusetts General Hospital (MGH), are looking for a needle in a haystack.

The small team is trying to locate patients with one variant of a specific gene, APOC3. The abnormality of this gene only affects about 1 in 150 people, so it’s rare as genes go, but thankfully they have help.

Dr. Kathiresan and his team use the Partners Biobank to conduct research that would otherwise be impossible using traditional research methods. The Biobank is a large research program designed to help us understand how genes, lifestyle, and environment affect health. It does this by providing researchers access to high-quality, consented blood samples and data to help foster research, advance our understanding of the causes of common diseases, and advance the treatment and prevention of disease.

It is possible to work with collaborators globally and have access to blood and potentially tissue samples. It is, however, the local Partners Biobank that gives our team access to actual patients based on specific genotypes

Locating and studying these individuals could have tremendous impact on how heart disease is treated in the future. Case in point, by using the Biobank, Dr. Kathiresan found that people with a single dysfunctional APOC3 gene variant were naturally protected against heart disease. Going forward, he and his team hope to study this further by working with individuals with this variant.

The team’s observations also revealed that patients who had the APOC3 gene variant had a low level of triglycerides–a type of unhealthy fat that circulates in the blood. Elevated triglyceride levels have been shown to increase the risk of heart disease and heart attack. By studying patients who have naturally low triglyceride levels due to the APOC3 defect, the team hopes to develop an inhibitor that will mirror the effect in other patients as well. 

This is the first time Drs. Kathiresan and his team will be working with Biobank participants for a research study. When asked whether this research would be possible without the samples from the Partners Biobank, Dr. Natarajan definitively said “no.”

“It is possible to work with collaborators globally and have access to blood and potentially tissue samples. It is, however, the local Partners Biobank that gives our team access to actual patients based on specific genotypes,” he said.

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