UM to lead Alzheimer’s study aimed at recruiting Blacks, Hispanics to help develop drugs

Over the past two decades, as medical care has evolved to include a patient’s genetic profile in clinical decisions, researchers studying Alzheimer’s disease have become aware of a blind spot in their data.

Much of the genetic information gathered in clinical studies comes from non-Hispanic white people of European descent, as genetic studies have historically excluded people of African and Hispanic ancestry, said Dr. Margaret Pericak-Vance, a geneticist and director of the John P. Hussman Institute for Human Genomics at the University of Miami’s Miller School of Medicine.

Without a diverse pool of genetic data that includes people of African and Hispanic ancestry, researchers will have fewer targets for developing drugs that can treat, cure or prevent Alzheimer’s disease, one of the leading causes of death in South Florida and the United States.

“We’re desperately looking for targets, looking for new targets for drugs,” she said.

To bridge the diversity gap, Pericak-Vance is leading an international study with UM and other institutions, including the University of Ibadan in Nigeria, that will recruit and analyze data on 5,000 people from different African countries, 4,000 African Americans and 4,000 Hispanic individuals.

The information will be added to existing databases from other studies that are part of the National Institutes of Health’s Alzheimer’s Disease Sequencing Project.

The study, which is funded by a $46 million grant awarded to UM and collaborating institutions by the National Institute on Aging, will run about five years and will also gather data on so-called social determinants, or factors outside of traditional medicine and healthcare that can affect an individual’s well-being, such as hunger, job security and neighborhood conditions.

Alzheimer’s research can help develop drugs

Though social factors can play a role in an individual’s risk of developing Alzheimer’s disease and dementia, researchers are mining DNA data in the hopes of identifying genes involved in the condition, genes that add risk or protection against the disease, and potential therapies for treating or preventing Alzheimer’s.

Scientists are more likely to succeed if they have a diverse pool of genes to study, Pericak-Vance said. Drug candidates with human genetic evidence of disease association are much more likely to be approved, according to a study published in the journal PLOS Genetics in 2019.

“This is why there’s a big push to include genetics and genomics in medicine,” Pericak-Vance said.

Currently, there are few drugs to manage the symptoms of Alzheimer’s, which destroys memory and thinking. Some drugs may slow the disease’s progress, but they do not change the underlying process.

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Growing number of Alzheimer’s cases

Pericak-Vance said the disease is “becoming an epidemic.’‘

More than 6 million Americans live with Alzheimer’s disease and that number is expected to more than double by 2050, according to the nonprofit Alzheimer’s Association, which advocates for treatment and prevention of the condition.

The disease has a pronounced genetic component, and is strongly influenced by mutations or variations in genes that can be inherited.

Pericak-Vance said a person’s ancestral background can make a difference over time in what genetic mutations they inherit and how those mutations can affect their risk of developing Alzheimer’s or preventing the disease.

Looking for Caribbean Hispanics, in addition to Blacks, Hispanics

In a region like South Florida, where the study will be recruiting participants, there’s a rich diversity of genetic ancestry to be mined.

“Our study, because of where we live, in Miami, is focused on people of African ancestry and Hispanics, especially Caribbean Hispanics,” she said. “They’re what we call ‘tri-mixed.’ That means they have an African background, a European background and a Native American background.”

The process of studying genetic information to identify variations that could predispose individuals to Alzheimer’s will be time-consuming as researchers look at people who have the disease, versus those who have aged without dementia and retain much of their mental acuity.

Pericak-Vance, who specializes in genomic and statistical research, works closely with her research partner and husband, Dr. Jeffery Vance, a professor and founding chair of the Dr. John T. Macdonald Foundation Department of Human Genetics at UM, and who specializes in studying the molecular biology of genes and their function.

The husband-and-wife team have studied the genetics of Alzheimer’s and other diseases for decades and were recruited to UM from Duke University in 2006.

They discovered genes associated with Alzheimer’s, Parkinson’s and macular degeneration while running Duke’s Center for Human Genetics, and UM spent more than $10 million at the time to move the Vances and a team of 20 researchers to the Miller School of Medicine, where they are based.

New gene connected to African Americans and Alzheimer’s

The group’s work at UM and with geneticists from other institutions identified a new gene associated with Alzheimer’s in African Americans, according to a study published in the Journal of the American Medical Association in April 2013.

The study, among the earliest clinical research into the genetics of Alzheimer’s among African Americans, took more than a decade to complete.

While Alzheimer’s occurs as frequently in African Americans as other populations, Pericak-Vance said there are important differences in the molecular mechanisms of the disease among people of different races and ethnicities.

And there are perhaps equally important environmental and behavioral factors that also contribute to the likelihood of someone developing Alzheimer’s.

Teasing them apart will take meticulous work, the right questions and most importantly, the participation of people of diverse races and ethnicities.

Because the study she is leading will also include data on social factors, Pericak-Vance said researchers hope to be able to learn more about the effects of genetics and environment on Alzheimer’s. But they need people to step up and share their genetic information.

“Alzheimer’s affects all of us,” she said, “and if we want to be part of the solution, then we have to participate.”

How to participate in the study

For more information or to participate in the study, please call 877-582-8788 or send inquiries by email to AD-HIHG@miami.edu.