Sekar Kathiresan, MD, medical director for the Cardiology Division, and his team of investigators – led by cardiologist Pradeep Natarajan, MD, and research coordinator Erina Kii in the Center for Human Genetic Research – are looking for a needle in a haystack.
The large-scale repository houses blood samples and health information from more than 32,000 Partners patients who consented to have their data and samples used in studies to help personalize and improve health care.
The team is trying to locate patients with one dysfunctional strain of a specific gene, APOC3, which affects about 1 in 150 people. Through his lab’s research, Dr. Kathiresan has found that people with this gene variant are naturally protected against heart disease and the team believes studying these individuals could have a tremendous impact on how heart disease is treated in the future.
The group turned to the Partners Biobank – a resource that gives researchers access to local patient populations with a wide range of genetic variations. The large-scale repository houses blood samples and health information from more than 32,000 Partners patients who consented to have their data and samples used in studies to help personalize and improve health care. The proximity of most patients to Mass General makes it easy for investigators to call in participants for a specific functional study.
Questions about Gene Variation
“Having this resource and access to a local population is key to answering some of the questions about how this gene variation works to block or lower triglycerides in humans,” Dr. Natarajan says.
Initial observations showed people with the dysfunctional APOC3 gene variant also had a low level of triglycerides – a type of unhealthy fat that circulates in the blood. Elevated levels have been shown to increase the risk of heart disease and heart attack.
By studying patients that have these 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.
Searching 5,000 Samples
After looking through the 5,000 samples that have recently been genotyped and released to researchers from the Partners Biobank, Dr. Natarajan was able to identify four individuals that have this disrupted APOC3 gene. He hopes to locate a total of 20 individuals with the dysfunctional gene and 20 control participants, or those who do not have the gene, to advance his study.
“It is possible to work with collaborators globally and have access to blood and potentially tissue samples,” Dr. Natarajan says. “It is, however, the local Partners Biobank that gives our
team access to actual patients based on specific genotypes.”
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This story was first published in MGH Hotline.