Down Syndrome and Alzheimer’s Disease

Global’s Initiatives for DS-AD Research

Relationship Between DS and AD

Huntington Potter, PhD

Down Syndrome-Alzheimer’s Disease Investigator Program

The Leader in Down Syndrome-Alzheimer’s Disease Research
and Medical Care Initiatives

Global’s Initiatives for Down Syndrome and Alzheimer’s Disease

  1. A World-Class Alzheimer’s Disease Research & Medical Care Center with a Sub-Specialty in Down Syndrome
    In 2012, Global and the Linda Crnic Institute for Down Syndrome recruited Huntington Potter, PhD, the world renowned Alzheimer’s disease researcher who discovered the mechanistic relationship between the disease and Down syndrome. Dr. Potter has now established the Rocky Mountain Alzheimer’s Disease Center with a sub-specialty in Down syndrome at the University of Colorado.

  3. Down Syndrome-Alzheimer’s Disease Investigator Program
    Global joined forces with the national Alzheimer’s Association (AA) in 2013 to create the Down Syndrome-Alzheimer’s Disease Investigator Program. To date, the program has funded $2.2 million in grants to top national and international scientists working on the most promising research aiming to develop and devise treatments for Alzheimer’s disease by studying individuals with Down syndrome.

  5. Linda Crnic Institute for Down Syndrome
    Global helps to fund the Crnic Grand Challenge Grants – the cornerstone for building the first and only academic home for Down syndrome research and medical care. To date, Global has funded $6.7 million in grants to 33 labs and over 100 scientists working through the University of Colorado, including grant recipients specifically researching the Down syndrome-Alzheimer’s disease relationship.

  7. Lobbying & Advocacy
    Global’s initiatives require both local and federal government funding. The current societal cost of Alzheimer’s disease to the U.S. is an estimated $236 billion per year, with devastating consequences to families. Studying people with Down syndrome is clearly an important (though not exclusive) pathway towards a cure or new therapies for Alzheimer’s disease. Global and the Down syndrome community are pleased that the National Institute on Aging (NIA) and the Eunice Kennedy Shriver National Intstitute of Child Health and Human Development (NICHD) have joined forces to pledge $37 million over five years to Down syndrome research—an investment with the potential to transform millions of lives, including those touched by Alzheimer’s disease.

  9. Education & Outreach
    Many people, including those in the Down syndrome and Alzheimer’s disease communities, do not know about the relationship between Down syndrome and Alzheimer’s disease and are not yet familiar with our initiatives in this regard. Clearly educating the general public, and the Down syndrome and Alzheimer’s disease communities, is imperative for Global’s initiatives to succeed.


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The Relationship Between Down Syndrome and Alzheimer’s Disease

The scientific world now understands that 100 percent of people with Down syndrome have the “brain pathology” of Alzheimer’s disease. In other words, the plaques and tangles that present only in the brains of typical individuals when they have Alzheimer’s disease will be present in all people with Down syndrome by the time they are in their 30s and 40s.

We also know there is a causal relationship. Typical people with Alzheimer’s disease develop three copies of the Amyloid Precursor Protein gene (APP) instead of having just two. People with Down syndrome are born with three copies of chromosome 21 – the chromosome on which the APP gene resides. Therefore all people with Down syndrome have three copies of the APP gene and will develop the brain pathology of Alzheimer’s disease over time.

However, although all those with Down syndrome have the brain pathology of Alzheimer’s disease it is estimated that only 50 percent will get the actual symptoms of dementia associated with the disease. Clearly, answering the question why half of the people with Down syndrome, even with the triplication of the APP gene, do NOT get dementia is a promising path towards treatments or a cure.

Researchers have also found that the entire chromosome 21 is triplicated in the skin and nerve cells of typical people with Alzheimer’s, reinforcing an even closer connection between the two conditions. Unfortunately the two conditions also share the notoriety of being woefully underfunded.

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Director of Alzheimer’s Disease Research, Linda Crnic Institute for Down Syndrome, University of Colorado Denver

In July 2012, the Global Down Syndrome Foundation and the Linda Crnic Institute for Down Syndrome joined forces with the University of Colorado’s Neurology Department to recruit Dr. Huntington Potter to begin the process of establishing a world-class Alzheimer’s disease research and medical care center.

Dr. Potter is a renowned Alzheimer’s disease researcher who discovered and is devoted to studying the mechanistic relationship between Alzheimer’s and Down syndrome. Recognizing that these conditions are two sides of the same coin and studying them together will hasten the development of new treatments for both.

Prior to joining UC Denver, Dr. Potter studied, researched and taught for 30 years at Harvard University. He received his AB Cum Laude in Physics and Chemistry and his MA and PhD in Biochemistry and Molecular Biology before spending 13 years on the faculty of the Neurobiology Department.

In 1998, he joined the Faculty at the University of South Florida as the Eric Pfeiffer Chair for Research on Alzheimer’s Disease. He designed and directed the National Institute on Aging-designated Florida Alzheimer’s Disease Research Center at USF and was elected President of the Faculty at the College of Medicine, and President of the USF Tampa Faculty Senate. From 2004-2008, he was CEO and Scientific Director of the Johnnie B. Byrd Sr. Alzheimer’s Center & Research Institute, during which time the Institute built the largest free-standing Alzheimer’s disease research institute in the world and developed 7 new treatments for Alzheimer’s disease in preparation for human trials, before joining USF.

Dr. Potter is credited with the first demonstration of the Holliday intermediate in genetic recombination, the perfection of electroporation for gene transfer, and the discovery of the essential role of inflammation and the amyloid-promoting activity of the apoE-4 protein in Alzheimer’s disease. He also discovered that Alzheimer’s disease and Down syndrome, which invariably leads to Alzheimer’s by age 30-40, are mechanistically related to each other and to cancer through the development of cells with abnormal numbers of chromosomes, which is the focus of his research at UC Denver.

He is author of over 100 scientific articles and books, is the holder of 15 U.S. and foreign patents, has sat on scientific advisory and review committees in academia, industry and government, and has received numerous awards for his work. In 2010, Dr. Potter was elected a Fellow of the American Association for the Advancement of Science. In 2013, Dr. Potter was named a charter fellow of the National Academy of Inventors. His electron micrographs of DNA are on permanent exhibit in the National American History Museum of the Smithsonian Institute in Washington D.C.

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In 2013, the Global Down Syndrome Foundation, Linda Crnic Institute for Down Syndrome and the national Alzheimer’s Association created the Down Syndrome-Alzheimer’s Disease Investigator Program. The program has awarded $1.2 million in grants to 5 scientists to fund groundbreaking research exploring the development of Alzheimer’s disease in individuals with Down syndrome. The program aims to translate the research into improved treatments for all people at risk for Alzheimer’s.


Karen Chang

Karen Chang, PhD
Functional protein interactions in Alzheimer’s disease & Down syndrome

University of Southern California
Los Angeles, CA


Marwan Sabbagh

Marwan Sabbagh, MD
Evaluate RNA towards identifying predisposition for AD in individuals with DS

Barrow Neurological Institute
Phoenix, AZ



Ann-Charlotte Granholm, PhD
Brain-derived neurotropic factor and executive dysfunction in Down syndrome

Medical University of South Carolina
Charleston, SC


Nicole Schupf

Nicole Schupf, PhD, MPH, DrPH
Test blood proteins towards identifying predisposition for AD in individuals with DS

University of North Texas Health Science Center
Fort Worth, TX


Fei Liu

Fei Liu, PhD
Assess Dyrk1A influence on the build-up of plaques and tangles in DS mice models

New York State Institute for Basic Research
Staten Island, NY



Donna Wilcock, PhD
Inflammatory biomarkers to predict transition to dementia in Down syndrome

University of Kentucky Research Foundation
Lexington, KY


William Mobley

William Mobley, MD, PhD
Test AD drugs that reduce toxic protein fragments in DS mice models

University of California, San Diego
San Diego, CA


Huaxi Xu

Huaxi Xu, PhD
Roles of miR-155/C/EBPB/SNX27 pathway in Alzheimer’s disease/Down syndrome

Sanford-Burnham Medical Research Institute
La Jolla, CA


eitan okun

Eitan Okun, PhD
Developing a DNA vaccine for Alzheimer’s disease in people with Down syndrome

Bar-Ilan University
Ramat-Gan, Israel

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