People with Down Syndrome Heroes for Alzheimer’s Research

  • People with Down syndrome have become one of our most important groups of volunteers for Alzheimer’s testing. Fortunately, many are more than willing to give their time and undergo some medical procedures in order to help others.


    Down syndrome is caused by the presence of an extra copy of chromosome 21. The genes on this chromosome are the same genes that control the production of the substance that forms the amyloid plaques associated with Alzheimer’s disease. The extra copy of the chromosome means that people with Down syndrome will develop the pathology of Alzheimer’s disease by the age of 40, though they may not show symptoms until they are older.

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    It used to be rare that people with Down syndrome lived to be old enough to exhibit symptoms associated with Alzheimer’s disease. Today, with the advantage of better medical care, many people with Down syndrome now live into their 60s. At this age, the symptoms of Alzheimer’s disease are most likely apparent.


    Unlike the general population where it’s difficult to know who is at risk for Alzheimer’s disease, all people with Down syndrome are at risk, so this is one group of people that can absolutely benefit from a drug that could prevent Alzheimer’s disease at an early age.


    The willingness of people with Down syndrome to volunteer for testing could eventually help everyone, because if a drug works for people with Down syndrome it would then be tested on the general population with more assurance that it would help people without the extra chromosome.


    People with Down syndrome have already made a difference in Alzheimer's research. Early work helped confirm the importance of amyloid as a physiological sign of Alzheimer’s development. Even more recently, these volunteers helped test an eye exam that could offer a simple, non-invasive way to screen for Alzheimer's.


    There are many Alzheimer’s clinical trials that can’t move forward due to lack of qualified volunteers. Some need health individuals who show no sign of Alzheimer’s symptoms. The National Institute on Aging Alzheimer’s Disease Education And Referral (ADEAR) Center at (800) 438-4380, can help anyone interested in clinical trials to see if you are a match. You can also visit the ADEAR Center clinical trials database. From there, you can sign up for email alerts that let you know when new clinical trials are added to the database. 


    Meanwhile, individuals with Down syndrome who have dedicated their time to finding a cure for Alzheimer’s disease deserve recognition. They are helping in a way that no one else can. These people are true heroes in the fight against Alzheimer’s and we are grateful to them.


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    Hamilton, Jon. (2014, August 25) People With Down Syndrome Are Pioneers In Alzheimer's Research. NPR. Retrieved from

Published On: August 28, 2014