Dr. William Mobley on Down Syndrome and Upcoming Fundraiser

LAist: You’ve been studying Down syndrome for quite a while, has public attitude towards those with Downs changed over the years?

Slowly, slowly, slowly it’s changed, and I think it’s got a long ways to go. It is still seen as a sentence and these folks still don’t have their just place in society. They still don’t get their fair share of school and help. They aren’t allowed into jobs in a way that they should be allowed into jobs. They are still felt not to be “full players” in our society. I think that is changing for the better, but I think we’ve got a ways to go.

What drew you to studying Down syndrome?

It evolved over many years. There was no family member involved with Down syndrome, there was no particular personal story there at first. It started with an interest in the science of these neurons that get sick in the brains of people with Alzheimer’s disease. These were the first neurons in the brain to respond to this protein called nerve growth factor (NGF). At the time, the best model of anything related to Alzheimer’s disease was really the Down syndrome model mice. What I found was this interesting result that everybody with Down syndrome gets the same pathology as Alzheimer’s. I started with the Down syndrome model and over the years I became more and more interested in the general problems of Down syndrome -- not just the Alzheimer’s piece -- but also the developmental piece.

It really had to do with the interest in science and having that mature and evolve over time. I became more interested in the problem generally, and of course the people who have to deal with Down syndrome.

Can you explain more about this link between Alzheimer’s and Down syndrome?

It is mysterious as to why this is the case, but it turns out that everyone with Down syndrome -- everyone -- shows the full-blown pathology of Alzheimer’s disease by age 40. That pathology is also associated with new changes in cognition: a decrease in the ability to think, remember and learn. By age 60, more than 60% of people with Down syndrome have this late life change in cognition. Last year, we found what we think is a very important gene, a controlling gene, in studies on mice that have a certain change in their brain that is like Alzheimer’s disease and Down syndrome. Those again were those neurons that I studied very long ago that led me to this work in the first place.

It’s been really 20 years that it’s taken to tell that story. We know there is a gene
-- not the only gene involved -- but one gene that plays a very important role in causing Alzheimer’s disease in people with Down syndrome. So now we’re trying to work on that gene, to turn it down and prevent it from causing all this trouble.

I’ve talked to some parents who obviously love their children very much and love them for who they are. They are wary of “changing” their children, can you talk about why this research is important?

I think those with Down syndrome need additional help to live independently. If we can help increase their cognitive ability, even modestly, we can make it easier for them to go to school, to make friends, ideally to live independently, have jobs, get married and drive cars. That’s what we want to go from here. I think that’s possible and I’m hopeful that will actually happen -- maybe not in my lifetime, but hopefully it will in my lifetime. It’s not that we want to negate all the possibilities that they bring into the world, which are considerable. They have this amazing ability to engage socially, to break down social barriers, to express concern and interest, and to really change families in a really positive way -- those are things we want to keep. In fact, we want to learn more about genes that cause that to happen. We shouldn’t just be looking for genes that make things miserable. We’ve got to be looking for the genes that make things better for them.

We want to help them live richer, fuller lives. I think all the families would like that. Surely we’d like to say to the families some day, “People used to worry about Alzheimer’s disease, but you can stop worrying about that because we’ve dealt with that problem now.” That’s the dream.

What other developments are happening?

Things are moving forward. There was just a paper out in the Proceedings of the National Academy of Sciences this week and a couple of weeks ago in the Journal of Comparative Neurology that shows we are making a lot of progress. One of the studies shows that we are going to be able to use these really powerful new tools to steady the transport of NGF again. What I haven’t said in this article and will say soon I hope, is that we can now do that in neurons from mice that model Down syndrome. That’s good. The other article talks about recent findings in mice that model Down syndrome and the changes going on there. We’re going to chase down the genes that are responsible for the problems with cognition that happen in young children.

What do you think of this big Hollywood fundraiser coming up?

It’s going to be fun, it gives me a chance to meet a long of interesting people and listen to some good music! I just want the parents to come, the reality is it’s just a tremendous pleasure to work for them and I hope I can deliver the good stuff they need for their children. We work so hard for their kids to really bring this forward and make new medicines happen, I’m just eager for that to all be true.

August 28, 2007
5pm
The Hollywood Bowl
2301 North Highland Ave.
Hollywood, CA 90026

Tickets to the event are still available for purchase by calling Suzanne Lezotte at 818.427.0116. Cost is $150 and fully tax deductible. Or to make a donation to the DSRTF, click here.

Photo of Dr. Mobley courtesy of Center for Research and Treatment of Down Syndrome
Photo of the cute kid Owen by An Tran for LAist