Alzheimer’s Research

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Category: Alzheimer’s Research

American Society of Human Genetics Honors Dr. Margaret Pericak-Vance with Lifetime Achievement Award

The annual award recognizes the John P. Hussman Institute for Human Genomics director’s substantial and far-reaching scientific contributions to human genetics.


By Lisette Hilton

Margaret Pericak-Vance, Ph.D., director of the John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Foundation Professor of Human Genetics at the University of Miami Miller School of Medicine, has been honored with the American Society of Human Genetics’ (ASHG) 2024 Lifetime Achievement Award.

Dr. Pericak-Vance, who received her award at the ASHG’s annual meeting in Denver on Nov. 7, delivered a moving acceptance speech that touched on major personal and professional milestones. She acknowledged friends, family and colleagues for their support throughout her career.

“Thank you to all of my friends and family and collaborators and everyone who has supported my journey. Without you this would not have been possible,” said Dr. Pericak-Vance. “Genetics is a team science, and we need each other to move the field forward.”

Former winners include Nobel Prize winners Joseph L. Goldstein, Michael S. Brown and Kary B. Mullis, as well as Alec Jeffreys, who established DNA fingerprinting, and physician-scientist Dr. Francis S. Collins, to name a few.

To Learn More, Visit The Millers School Of Medicine

Uncovering Why Studying Diverse Populations Is Crucial to Alzheimer’s Research

Lessons from the Alzheimer’s Disease Sequencing Project and subsequent DAWN study


By Greg Laub
Interview With Margaret Pericak-Vance, PhD

The DAWN study is an international, multi-site initiative to expand Alzheimer’s disease genetic research in underrepresented African ancestry populations and Latino groups.

In this exclusive MedPage Today video, Margaret Pericak-Vance, PhD, director of the John P. Hussman Institute for Human Genomics at the University of Miami Miller School of Medicine in Florida, discusses how the Alzheimer’s Disease Sequencing Project, which helped uncover the importance of including diverse populations in Alzheimer’s research, led to the subsequent DAWN study.

Following is a transcript of her remarks:

The goal of the Alzheimer’s Disease Sequencing Project was to sequence a large number of individuals to find the genetic variations — those with the disease and those who are cognitively unimpaired — to be able to identify genes that cause risk or even genes that are involved in prevention.

For the full video and transcript, please visit Med Page Today.

Exploring Genetic Variants and Global Challenges in Alzheimer Disease Research: Jeffery M. Vance, MD, PhD


By Jeffery Vance, MD, PhD
Isabella Ciccone, MPH
Fact checked by Marco Meglio

The Alzheimer’s Disease Sequencing Project (ADSP) is an initiative by the National Institute on Aging focused on identifying genetic variants that either increase the risk of or provide protection against Alzheimer disease (AD). In its current phase, the study concentrates on whole genome sequencing in non-European populations, including Hispanic/Latino, non-Hispanic Black individuals with African ancestry, and Asian groups. At the 2024 Alzheimer’s Association International Conference, held from July 28 to August 1, in Philadelphia, Pennsylvania, a recent study provided an overview of the clinical characteristics within the ADSP cohorts.1

Click here to Read More

 

African Ancestry Individuals with Higher Educational Attainment Are Resilient to Alzheimer’s Disease Measured by pTau181

The article titled “African Ancestry Individuals with Higher Educational Attainment Are Resilient to Alzheimer’s Disease Measured by pTau181” explores the relationship between education and resilience to Alzheimer’s disease (AD) in individuals of African ancestry. The study focuses on a specific biomarker, pTau181, which is associated with Alzheimer’s-related brain changes. Researchers found that individuals with higher educational attainment (EA) showed greater resilience to Alzheimer’s disease, even when they had high levels of pTau181.

This means that those with more education were better able to maintain their cognitive and functional abilities despite the presence of Alzheimer’s pathology.
The study involved 410 African American participants and examined their educational levels, cognitive function, and the presence of the APOE ɛ4 gene variant, which is known to increase the risk of Alzheimer’s. The results indicated that higher education was linked to better functional abilities. However, this protective effect was less pronounced in individuals carrying the high-risk APOE ε4 allele.

This research highlights the importance of education as a protective modifiable factor against Alzheimer’s disease.  It suggests that educational attainment can provide cognitive resilience, helping individuals to better cope with the disease’s effects. The findings are significant because they offer insights into potential interventions that could help reduce the impact of Alzheimer’s in African American communities.

In summary, the study demonstrates that higher educational attainment is associated with greater resilience to Alzheimer’s disease in individuals of African ancestry. This resilience is measured by the ability to maintain cognitive and functional abilities despite high levels of the Alzheimer’s biomarker pTau181. The research underscores the value of education in promoting brain health and suggests that increasing educational opportunities could be a key strategy in combating Alzheimer’s disease

Rajabli F, Seixas AA, Akgun B, Adams LD, Inciute J, Hamilton KL, Whithead PG,
Konidari I, Gu T, Arvizu J, Golightly CG, Starks TD, Laux R, Byrd GS, Haines JL,
Beecham GW, Griswold AJ, Vance JM, Cuccaro ML, Pericak-Vance MA.

African Ancestry Individuals with Higher Educational Attainment Are Resilient to Alzheimer’s Disease Measured by pTau181.

J Alzheimer’s Dis. 2024;98(1):221-229. doi:
10.3233/JAD-231116. PMID: 38393909; PMCID: PMC11091636

Brain Donations: Attitudes And Perceptions Among African Americans

Synopsis: Evaluating the brain after death is considered the gold standard for diagnosing most brain disorders. However, while Black\African Americans are twice as likely to develop Alzheimer’s disease as compared to non-Hispanic Whites, they make up less than 2% of brain donations for research. More participation of Black / African Americans in this research will be important to make progress toward effective treatments.

Results: We have looked at attitudes toward brain donation and perceptions of medical research. Surveys distributed to 227 Black / African American community members found that:

  • 27% reported being likely to donate their brain to research after death vs. 32% who reported not being likely.
  • 73% of people said that they trust medical researchers.
    Few people had ever been asked to donate their brain (11%) or a loved one’s
    brain (6%).
  • Families play a major role in the decision for brain donation. Many people were
    not confident if their family would carry out their wish for brain donation to
    research.
  • Most people believe that their family would be more likely to discuss brain
    donation if they had more information about it.

Conclusions: This survey serves as a first step in increasing our understanding of how to engage Black / African Americans in brain donation research. Overall, the major takeaways from the survey are:

  • Though community members reported relatively low levels of knowledge about
    Alzheimer’s disease and brain donation research there was also high levels of
    trust and hope in research and science to cure diseases which may be an
    important opportunity for sharing the importance of brain donation so that
    community members can make informed decisions about participating in
    research and brain donation.
  • Only about a quarter of the surveys were completed by males. More efforts to
    find out about how to interest Black\African American males in research on
    Alzheimer’s disease and brain donation are critically needed. Providing this
    information to men in locations where men are already gathered, such as
    barbershops or faith-based institutions may be a useful approach.

Alz in the Hispanic Community

https://www.youtube.com/watch?v=ZyIH3eVroW0

 

The University of Miami Health System, through its Genomic Institute, is spearheading an initiative to increase Hispanic participation in Alzheimer’s research. The primary goal of this study is to identify genetic risks associated with the development of Alzheimer’s disease in the Hispanic-Latino population, which have not been extensively documented in medical literature.

Carolyn Banks’s story is not uncommon. As she noticed her older sister’s memory fading, her own brain health became a source of concern. This personal experience is reflective of a larger, more troubling trend observed in Miami-Dade County. The fear of memory loss, difficulty in recalling words, and names slipping away are signs that resonate with many in the community.

Despite Hispanics having the second highest risk of Alzheimer’s, they are only included in 1% of the studies conducted. Increasing their inclusion is not just about representation; it’s about improving access to medical resources and developing treatments specifically tailored for the community.

Jesús Carcases and his wife, who are caregivers for their 57-year-old daughter with Alzheimer’s, are participating in the study. They believe that involvement in such research is crucial for finding better outcomes. “This disease greatly affects families. We need to participate to seek better results,” says Carcases.

While there is currently no cure for Alzheimer’s, identifying specific human genome variants in this population can aid in creating preventive measures, especially for families at high risk of the disease. “Participating and helping this cause makes you feel good and happy,” adds Carcases.

For more information about Alzheimer’s studies or to participate, individuals can call 877-582-2788 or visit thedawnstudy.com.

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