Scientists at the University of Miami Miller School of Medicine’s prestigious John P. Hussman Institute for Human Genomics (HIHG) played a major role at the first virtual Alzheimer’s Disease Genetics Global Symposium. The event featured more than 35 international speakers, including several invited researchers from the Hussman Institute. On-demand presentations were made available to over 1,660 participants from 68 countries followed by a live question and answer period. More than 360 attendees had the opportunity to ask the world’s experts about current topics in Alzheimer’s disease genetic research.
“The symposium gave us the opportunity to update the global scientific community of the research advances in understanding the genetics of Alzheimer’s disease as we work toward our translational goals,” said Margaret Pericak-Vance, Ph.D., director of the HIHG and Dr. John T. Macdonald Foundation Professor of Human Genetics, one of the organizers of the event.
Supported by the Alzheimer’s Association and the National Institute on Aging, the goal of this virtual symposium, held in September, was to inform the Alzheimer’s disease (AD) community of the advances made in global AD genetics research and to stimulate conversation about the potential for translational research. The live Q&A and the webinars can be viewed until September 22, 2021.
The implications of research findings
Global cross-disciplinary experts discussed a variety of topics, including “AD Genetics: From Gene Discovery to Function,” and “AD Genetics Around the World,” and conducted a series of sessions on biological pathways implicated by genetic studies in Alzheimer’s disease, including “APP and Presenilin,” “Neuroinflammation and Neuroimmunity,” “Endocytosis,” “Cholesterol and APOE,” and “Neuronal Signaling and Tau.” The speakers highlighted the importance of these various discoveries and the implications of the findings for future drug discovery, prevention and ultimately treatment. Eliezer Masliah, M.D., director of the Division of Neurosciences at the NIA, opened the symposium with an introduction to the recent progress in understanding AD genetics in the context of the National Plan to Address Alzheimer’s disease, which calls for the nation to identify effective ways to treat or prevent Alzheimer’s disease and related dementias by 2025.
HIHG researchers have been at the forefront of breakthrough scientific explorations into racial, ethnic and gender differences in AD. Among the international contributors to the symposium, in addition to Dr. Pericak-Vance, were UM’s Gary Beecham, Ph.D., associate professor of human genetics, Brian Kunkle, Ph.D., M.P.H., research assistant professor of human genetics, Holly Cukier, Ph.D., research assistant professor of neurology and human genetics, and Jeffery Vance, M.D., Ph.D., professor of human genetics and neurology.
Dr. Beecham provided an overview of Alzheimer’s disease genetics, covering both where the field came from and where it is going, and provided an introduction to the subsequent topics of the session.
Other noteworthy presentations included Dr. Kunkle’s talk, which covered findings from recent pathway analyses of genetic data. This type of analysis aims to identify bodily functions (pathways) that genes control and can reveal biological mechanisms important to disease. Identifying these pathways allows for their targeting by clinicians with therapeutic interventions in the future.
Recent advances in genetic studies
Dr. Pericak-Vance’s presentation explored the recent advances in genetic studies in AD in African Americans. While the major pathways involved in the origins of Alzheimer’s disease in African Americans are similar to those in non-Hispanic whites, many of the specific disease-associated genetic risk factors within these pathways are different among populations and could be important for developing population-specific therapeutics.
Dr. Cukier discussed the role of ABCA7 in Alzheimer’s disease. The ABCA7 gene has been implicated in Alzheimer’s risk in a variety of populations, including those with Africa, Asian, and European ancestry. In addition, known functions of the ABCA7 protein include pathways already implicated in disease including amyloid precursor protein (APP) processing, amyloid beta clearance, the immune response, and cholesterol metabolism.
Dr. Vance’s research focuses on APOE and the benefits and risks it presents to an individual in developing AD. His talk encompassed a summary overview of the Pathway IV - Cholesterol and APOE session, and explored the clinical applications for these recent discoveries and the future direction of research and patient care.
Joining Dr. Pericak-Vance as organizers of the symposium were Elizabeth Blue, Ph.D., University of Washington; Alison Goate, D.Phil., Icahn School of Medicine, and Badri Vardarajan, Ph.D., Columbia University.