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Genes to the Rescue

Learn about GeneMatch: a project underway at Roper St. Francis and across the nation to help scientists battle Alzheimer’s and how you may be able to help find a cure.


Every 66 seconds, someone in the U.S. develops Alzheimer’s disease: an irreversible, degenerative brain condition that leads to memory loss and severe cognitive impairment. Potential complications of the condition include decreased immune function, stroke, and lung failure, making it the sixth leading cause of death in the nation. Though doctors know that Alzheimer’s is caused by brain cell death and have pinpointed major risk factors (age, family history, and genetics), there is still no prevention or cure for the heartbreaking condition.

In hopes of changing that, researchers across the country are working together on GeneMatch: a project to create a database of people with genetic risk factors for Alzheimer’s. Armed with this new data, doctors can learn more about the disease and find participants for treatment-related clinical trials more quickly and efficiently. This January, Roper St. Francis became the first and only GeneMatch site in South Carolina. Here, Dr. Jacobo Mintzer—head of the Clinical Biotechnology Research Institute at Roper St. Francis—explains how the project will play a pivotal role in the fight against Alzheimer’s, and how you may be able to help.

RSF: Who is eligible for the GeneMatch project?
JM: Right now, we’re recruiting anyone between 55 and 75 years old who has not been diagnosed with Alzheimer’s or another cognitive impairment. All it takes is a quick and painless cheek swab, which can be done in our office or with a free at-home kit. Using your saliva, we assess your genetic risk for Alzheimer’s.

RSF: What do those genetic risk factors entail?
JM: So far, the only reliable genetic predictor for Alzheimer’s disease is APOE, a gene related to cholesterol metabolism. The gene comes in several forms and everyone has two copies. We’re primarily interested in APOE4, which is present in about 10 to 15 percent of the population. Your risk of developing the disease doubles if you have one copy of APOE4, and increases significantly if you have two. 

RSF: How can studying people’s APOE genes help to
prevent or treat AD?
JM: By studying people who have APOE4 and do not develop Alzheimer’s, it will shed new light on the factors that protect against and outweigh a genetic predisposition to the disease. We’re also interested in studying people with APOE3 or APOE2 who develop the disease. From that, we can learn what factors overcome built-in genetic protections. Also, by having access to the genetic profiles of people at risk for Alzheimer’s, we are able to approach and hopefully enlist them in clinical trials as new treatment options emerge.

RSF: Can you give an example of a clinical trial GeneMatch participants may qualify for?
JM: Roper St. Francis is one of 30 sites gearing up for the Novartis Generation study. This long-term clinical trial will test two drugs to see if they can slow the onset and progression of Alzheimer’s among individuals with two APOE4 genes. We’re currently in the process of screening individuals from the GeneMatch database who qualify, and are hoping to enroll approximately 10 local patients who will receive the drugs and free study-related care for five to eight years.

RSF: Why should someone register for GeneMatch, and how can
a person get involved?

JM: As a community, our participation confirms our commitment to having cutting-edge diagnostic and therapeutic tools for Alzheimer’s patients right here in the Lowcountry. Also, just by joining the thousands of people nationwide who have provided cheek swabs, you’re making a major contribution to science. You can call our office at any time to set up a memory screen and GeneMatch registration appointment, which usually lasts about 30 minutes. Our CBRI main office line is (843) 724-2302.


By Jacqui Calloway

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  • Lara McFalls
    July 1, 2017 at 11:53 am

    I am very interested. Will be 55 in February 2018.
    Father deceased due to Alzheimer’s.

    • Roper St. Francis
      July 10, 2017 at 1:11 pm

      Thanks for your interest. Please call the Clinical Biotechnology Research Institute at Roper St. Francis to make a GeneMatch registration appointment on their main office line (843) 724-2302.

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