What Biology Breakthroughs Have Surprised You? (1:10)
The interest in Down syndrome research has ramped up, with many clinical trials underway now. In this video, HealthMaker William Mobley, MD, PhD, talks about potential therapies and the impact of gene copies on these patients.
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Well, I don't know if it's so been so surprising, it's just helpful. So it turns out that, genes, really make a difference, an extra copy of one gene makes a big difference in Down Syndrome, and so, the gratifying thing about the linear thinking that we do, is that genes make a differences, too much of a gene makes a difference that can cause a disease, and that going after defining which genes are involved, and how they work is an entree to therapy. And in Down Syndrome I think, the therapies will come. Eight years ago, when I would talk to people about Down Syndrome, it's too difficult to understand, too complex to study, and too light to make a differences, and there were no clinical trials, no rational clinical trials.
Now there's a clinical trial which is going from Roche, there'll be another clinical trial I hope begin next year in a different way of approaching Down Syndrome, and I think, there's four, five, or six targets out there that are really rational targets for helping kids and adults with Down Syndrome.
William Mobley, MD, PhD, is chair of the Department of Neurosciences at UCSD and a leading expert on Down syndrome and Alzheimer's disease. He discusses the surprising link between Down syndrome and Alzheimer's.
