News : 2020 : November

Alzheimer’s Disease Genetics Global Symposium 2020

The University of Miami Miller School of Medicine (UMMSM) is an influential leader in Alzheimer disease (AD) research. Scientists with the Miller School’s prestigious John P. Hussman Institute for Human Genomics (HIHG) were invited speakers along with over 35 speakers from 5 countries at the first virtual Alzheimer’s Disease Genetics Global Symposium. On-demand presentations were made available September 1, 2020 to over 1,660 participants from 68 countries followed by a live question and answer (Q&A) period, which was held Tuesday, September 22, 2020. Over 360 attendees at the live Q&A had the opportunity to directly ask the world’s experts about current topics in Alzheimer disease genetic research.

Supported by the Alzheimer’s Association and the National Institute on Aging (NIA), the goal of this virtual symposium is to inform the AD community of the advances made in global Alzheimer disease genetics research and to stimulate conversation about the potential for translational research.

Global experts from across disciplines discussed topics including AD Genetics: From Gene Discovery to Function; AD Genetics Around the World; and conducted a series of sessions on biological pathways implicated by genetic studies in Alzheimer 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. “The symposium gave us the opportunity to update the global scientific community of the research advances in understanding the genetics of Alzheimer Disease as we work towards our translational goals” said Dr. Margaret Pericak-Vance, one of the organizers of the event.

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 disease , which calls for the nation to identify effective ways to treat or prevent Alzheimer 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 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; Margaret A Pericak-Vance, Ph.D., Director of the HIHG and 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 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 covering 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.

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’s presentations as well as explored the clinical applications for these recent discoveries and the future direction of research and patient care.

Along with Margaret Pericak-Vance, Ph.D., Elizabeth Blue, Ph.D., University of Washington; Alison Goate, DPhil, Icahn School of Medicine; and Badri Vardarajan, Ph.D., Columbia University organized the event, which was successful in reaching a broad portion of the international scientific community.

Both the Live Q&A and the webinars are available to view for the next year — until September 22, 2021.