Columbia Joins International Genetic Study of Alzheimer’s Disease in People of Hispanic and African Ancestry

July 25, 2022

A team of investigators from the Taub Institute for Research on Alzheimer’s Disease and the Aging Brain at NewYork-Presbyterian/Columbia University Irving Medical Center (NYP/CUIMC) have joined a major international initiative, directed by the John P. Hussman Institute for Human Genomics (HIHG) at the University of Miami Miller School of Medicine, to build a resource that will expand Alzheimer’s disease genetic studies in the underrepresented African ancestry populations and Hispanic/Latinx groups. This five-year, multisite initiative also includes investigator teams from Case Western Reserve University, Wake Forest University, the University of Pennsylvania, and the University of Ibadan as the lead institution for the African Dementia Consortium (AfDC).

This initiative is funded by a $46 million grant from the National Institutes of Health/National Institute on Aging, and will be led by Dr. Margaret A. Pericak-Vance of the John P. Hussman Institute for Human Genomics (HIHG) at the University of Miami Miller School of Medicine; Drs. Christiane Reitz and Giuseppe Tosto of the Taub Institute for Research on Alzheimer’s Disease and the Aging Brain at NYP/CUIMC; Drs. Brian Kunkle and Jeffery Vance at HIHG; Drs. Jonathan Haines and William Bush of Case Western Reserve University; and Dr. Goldie Byrd of Wake Forest University.

Dr. Christiane Reitz

Dr. Christiane Reitz

Alzheimer’s disease (AD) is a complex disease with a pronounced genetic component and an estimated heritability of 60% to 80%. Though AD can affect individuals of different ethnic and ancestral backgrounds, genetic studies of AD have not been well diversified. Historically, genetic-based studies of AD have been performed in non-Hispanic White populations of European ancestry, with communities of Hispanic and African ancestries largely excluded.

“Hispanics and individuals of African ancestry have been significantly underrepresented in research of Alzheimer’s disease, although engaging underserved minorities is critical to fully disentangle the etiologic mechanisms underlying this disease,” explains Dr. Christiane Reitz, associate professor of neurology and epidemiology in the Taub Institute at NYP/CUIMC.

Creating a Genetic Data Resource

This new multisite initiative will help bridge the research disparities that have historically existed in diverse communities. Through the recruitment, assessment, and genetic analysis of an extensive cohort of participants of Hispanic/Latinx and African ancestries, clinical, phenotypic, and genetic data will be collected, along with social determinants of health factors, to create a large genomic study resource.

This study cohort will include 4,000 African Americans and 4,000 Hispanic/Latinx individuals ascertained in the U.S., as well as 5,000 individuals ascertained from various African countries. 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). The Taub Institute for Research on Alzheimer’s Disease and the Aging Brain at Columbia University Irving Medical Center will be responsible for the recruitment of 2,000 Hispanics/Latinx and 1,000 African Americans. The recruitment of Hispanics/Latinx participants will be led by Dr. Giuseppe Tosto and his clinical research team, including Project Manager Jeffrey Cedeno and Clinical Coordinator Jennifer Cespedes. Recruitment of African Americans will be led

by Dr. Christiane Reitz and her clinical research team, including Community Engagement Specialist Paula Rice and Clinical Coordinator Jenny Chavez.

Recruitment in Africa will be done under the umbrella of the AfDC. Led by Drs. Rufus Akinyemi and Adesola Ogunniyi, the AfDC is a coalition of African dementia researchers in a multidisciplinary framework, working together with the aim of generating clinical, cognitive, socioeconomic, neuroimaging, genomic, and biomarker data to improve the phenotypic characterization of dementia in Africa. The AfDC’s goals include the translation of scientific evidence to health policy and clinical practice, lessening the burden of dementia among Africans, and ultimately contributing to the reduction of 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 Focused Study

Dr. Giuseppe Tosto

Dr. Giuseppe Tosto

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

“A more inclusive recruitment approach will help us better understand the genetic factors contributing to Alzheimer’s disease, will help clarify which of these factors are specific to one ethnic group or are universally shared, and will ultimately help us develop drugs for prevention and treatment that are better tailored to the individual and are therefore much more effective,” explains Dr. Giuseppe Tosto, assistant professor of neurology in the Taub Institute at NYP/CUIMC.

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

The diverse cohort involved in this initiative will also help to address inequalities and medical disparities in AD treatment and prevention. The study is also one of the first to examine the interaction between ancestry and the social determinants of health. Both factors can 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 AD.

Study Sites Across Africa

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

CONTACT INFORMATION FOR STUDY PARTICIPATION at COLUMBIA: For more information about participation in this study through the Taub Institute at NYP/CUIMC, please contact study coordinators Jenny Chavez at 212-342-3019 or Jeffrey Cedeno at 212-305-9274 or visit (Live August 1, 2022).

The Taub Institute for Research on Alzheimer’s Disease and the Aging Brain at NewYork-Presbyterian/Columbia University Irving Medical Center brings together researchers and clinicians across disciplines to uncover the causes of Alzheimer’s, Parkinson’s, and other age-related brain diseases, and to discover ways to treat, prevent, and ultimately cure these diseases. In collaboration with the Departments of Neurology, and Pathology & Cell Biology, research in the Taub Institute integrates genetic analysis, molecular and cellular studies, and clinical investigation to better understand complex neurodegenerative disorders. For more information, visit the Taub Institute for Research on Alzheimer’s Disease and the Aging Brain website.