The Connection Between Down Syndrome and Alzheimer's Disease

Read Transcript

I work on Alzheimer disease because I work on Down Syndrome, and you may know that every person with Down Syndrome has all the brain pathology of Alzheimer's disease by age 40, and that most of them by age 60 will have also further lost cognition, well abandonment if you will. Down Syndrome is the richest single richest source of Alzheimer disease in the world.

I think we are close to a disease modifying treatment. What I mean by that is we are not just dealing with the side effects of this disorder or getting in, we're starting to stick our wrenches into the basic mechanism. One part of this mechanism has to do with processing of this protein called APP. I think the aha moment from me was when we were doing studies in a mouse model of down syndrome ensured that by removing one copy of one G in the extra copy of APP that there was no more degeneration of these neurons that are known to die and all services Alzheimers syndrom.

That was it for me and I said now we've to go after this, now we've got to do our best to understand how this happens to help people with Down Syndrome hopefully to prevent that the Alzheimer's disease that occurs in Down Syndrome and maybe by doing so, we'll help the rest of us. If you look ahead at 2050 and you look at the number of cases across the world that will have the Alzheimer's disease and you say at least two other people are going to be involved in caring for that person, which is typically the case, all of Europe, Alzheimer's disease is carrying forward by 24.

When you think at those numbers, outstanding numbers, spectacular numbers, billions of dollars is now spent trillions it's unacceptable. So I think the focus on Alzheimer disease this oncoming epidemic and finding those things we can do to deal with the challenges that are there right now for families and patients.

But to really commit to finding a disease modifying therapy, hard to think of anything more important. It's a family disorder, it's a disease of families and friends, not just of individuals. This is a disease, the Alzheimer's disease that goes on for a number of years, there are stages that they have to be prepared for, that they should pay a lot of attention to the context in which the patient is living.

They have to worry about things like getting lost and wondering, they have to worry about things like financial mistakes, they have to worry about people taking advantage of their loved ones. They have to worry about driving, they have to worry about a lot of things that came so naturally even five years ago but will over some period of time undoubtedly worsen, save a treatment that is really effective.

Well I want to think we are close, I want to think we know about the biology to say that we'll make it. I want to think that we are getting more and more clever about the nature of the disease and that we're not so far away from a treatment for it. A cure I'd love it, a treatment I take it, a preventative I'd be ecstatic.