John P. Hussman Institute to Lead International Genetic Study of Alzheimer’s Disease in People of Hispanic and African Descent – InventUM

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To create a resource that significantly expands genetic studies of Alzheimer’s disease in populations of African descent and currently underrepresented Hispanic/Latino groups, the John P. Hussman Institute for Human Genomics (HIHG) at the University of Miami Miller School of Medicine will lead a one-year multi-site Big Five International Initiative with Case Western Reserve University, Columbia University, Wake Forest University, University of Pennsylvania, and University of Ibadan , which is the lead institution of the African Dementia Consortium (AfDC).

The new initiative is funded by a $46 million grant to HIHG from the National Institute on Aging, part of the National Institutes of Health. Margaret A. Pericak-Vance, Ph.D., Director of HIHG and Dr. John T. Macdonald Foundation Professor of Human Genetics, will oversee the overall efforts of principal investigators at multiple national and international sites. She is joined by co-PIs Drs. Brian Kunkle and Jeffery Vance (HIHG); Drs. Jonathan Haines and William Bush of Case Western Reserve; Dr. Goldie Byrd of Wake Forest; and Drs. Christiane Reitz and Giuseppe Tosto from Colombia.

Margaret Pericak-Vance, Ph.D.

“We recognized early on the need to advance community participatory efforts to increase understanding of Alzheimer’s disease,” said Dr. Pericak-Vance. “Only by being inclusive in our approach and including all groups can we develop targeted drug therapies, which would be universally beneficial.”

Alzheimer’s disease is a complex disease with a pronounced genetic component; its estimated heritability is 60% to 80%. Although the disease can affect individuals of almost any ethnicity and ancestry, efforts at genetic studies have historically not been well diversified. Most genetic studies of Alzheimer’s disease have been performed in non-Hispanic white populations of European ancestry, with Hispanic and African ancestry communities being largely ignored.

“We know that the risk due to genetic factors varies widely between ancestral groups,” said Brian Kunkle, Ph.D., MPH, assistant professor of human genetics, HIHG. “However, research on primarily African, Hispanic, and Latino ancestry groups is limited. Expanding studies in these populations will be critical to developing prevention and treatment strategies that work for everyone.

Creation of a genetic data resource

The new multi-site venture will help bridge research disparities that have historically existed in various communities. Through the recruitment, evaluation and genetic analysis of a significantly large cohort of participants of Hispanic/Latin and African ancestry, clinical, phenotypic and genetic data, as well as social determinants of health factors, will be collected to create an extensive resource for genomic study.

The cohort will include 5,000 people from various African countries, 4,000 African Americans and 4,000 Hispanic/Latin people. Data collected from participants will be added to existing databases of harmonized data from other ongoing studies as part of the Alzheimer’s Disease Sequencing Project (ADSP).

Jeffery M. Vance, MD, Ph.D.

Recruitment in Africa will be done under the aegis of the AfDC. Led by Rufus Akinyemi, MB, BS, Ph.D., FMCP, and Adesola Ogunniyi, MB, Ch.B., FMCP, the AfDC is a coalition of African dementia researchers in a multidisciplinary setting, working together in the aim to generate clinical, cognitive, socio-economic, neuro-imaging, genomic and biomarker data to improve the phenotypic characterization of dementia, in particular Alzheimer’s disease, in Africa. AfDC’s goals include translating scientific evidence into health policy and clinical practice, reducing the burden of dementia among Africans, and ultimately contributing to reducing the global burden of dementia.

Currently, the AfDC includes researchers from nine African countries, including Nigeria, Ghana, Uganda, Benin, Cameroon, Kenya, Mozambique, Tanzania, and Ethiopia.

Higher risk requires targeted study

This new initiative is particularly important because members of the African American and Hispanic/Latin communities have one of the highest risks of developing Alzheimer’s disease. Thus, identifying ancestral differences in the causes of Alzheimer’s disease is essential to treating all individuals.

“These studies will accelerate our understanding of genetic factors contributing to Alzheimer’s disease, particularly in the multi-ancestral population of the United States as well as in populations around the world,” said Jeffery Vance, MD, Ph.D. , professor of human sciences. genetics and neurology, HIHG.

Studies show that people differ genetically based on their ancestral origins when it comes to Alzheimer’s risk. Therefore, the participation of the African-American and Hispanic-Latin communities is essential in the search for possible causes, treatments and solutions specific to these groups and more broadly applicable to all people with Alzheimer’s.

Brian Kunkle, MPH, Ph.D.

Thanks to the participation of individuals, the initiative will help to fight against inequalities and medical disparities in the treatment and prevention of Alzheimer’s disease. The study is also one of the first to examine the interplay between ancestry and the social determinants of health. Both factors may contribute to the risk and age of onset of Alzheimer’s disease, and studying both types of risk factors will help researchers understand how they interact in the development of Alzheimer’s disease. .

Study sites across Africa

The collaborative group includes the five US sites listed above and 11 sites across Africa—University of Ibadan; University of Ghana College of Health Sciences; Korle-Bu University Hospital; Kwame Nkrumah University of Science and Technology; Makerere University; University of Parakou; University of Yaoundé; University of Nairobi; Eduardo Mondlane University; Kilimanjaro Christian Medical College; and Addis Ababa University.

In addition to Drs. Pericak-Vance, Kunkle, and Vance, the University of Miami study team includes co-investigators Gary Beecham, Ph.D., Susan Blanton, Ph.D., Michael Cuccaro, Ph.D., Anthony Griswold, Ph.D., Katalina McInerney, Ph.D., Farid Rajabli, Ph.D., and Azizi Seixas, Ph.D.

For more information or to participate in the study, please contact the study coordinators at (877) 582-8788, or visit (live August 1, 2022).

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