DS Research 101: Part 2

Welcome back.  In our last post we addressed questions about Down syndrome research in general.  In today’s installment we’ll take a look at DSRTF’s specific approach to improving cognition for people with DS.

Now I know what cognition research is all about…but DSRT-what?
We’re the DSRTF — Down Syndrome Research and Treatment Foundation.  We fund biomedical research into treatments to improve learning, memory, and speech in people who have DS, towards the goal of greater independence, full inclusion, and enhanced lives for people with DS and their families.  We’re the leading non-governmental source of funding in the U.S. for Down syndrome cognition research: Since our founding in 2004, we’ve committed more than $8 million to fund research programs to benefit children and adults with Down syndrome.  Our efforts continue through our plus15 campaign.

What’s the focus of the DSRTF’s research?
One area of inquiry involves the hippocampus, an area of the brain essential to learning and memory, and its synapses, the gaps between neurons that pass information from one neuron to the next.  Evidence suggests that in the brain of people with DS, the structure and function of synapses are abnormal, causing cognitive deficits.  Understanding the nature of these abnormalities and developing ways to evaluate them is an important focus of current DS research.

We’re also focusing on the underlying genetic and biological causes of abnormalities in the DS brain.  Researchers hypothesize that one or more of the genes on chromosome 21 is responsible for the structural and functional abnormalities in the hippocampus of someone with DS, and have begun determining which genes are implicated.  Once the genes have been identified, the next step is to investigate pharmaceutical agents that can turn down or turn off the expression of those genes, with the hope of restoring normal function to the brain.

What are some of the efforts the DSRTF funds?
We support research at major centers like Johns Hopkins Medical Center, Stanford University, University of California, San Diego, and University of Arizona, encompassing science that ranges from sleep structure to Alzheimer’s disease to drug therapy.  So far, this research has resulted in five new potential drug targets, three candidate drugs, and a battery of tests to assess the efficacy of potential treatments.

For more detailed information on these efforts, read about our active research, or check current status in our reseach and development pipeline.

In our next DS Research 101 post, we’ll focus on the link between Down syndrome and Alzheimer’s disease.  And stay tuned later this week for a closer look at the Roche trial, which is currently investigating a molecule designed to address the cognitive deficits associated with Down syndrome.  We’re excited and proud to be part of this groundbreaking endeavor, and we’re glad you’re here to discuss it with us.

One thought on “DS Research 101: Part 2

  1. Dr. Erica Peirson

    Given that it can take on average 15 years for a drug to be developed and available on the market for treatment, is the DSRTF exploring existing agents that are known to aid in the negative biochemical processes involved in DS? Some examples are Bacopa monnieri as an anti-glutamatergic or inhibition of DYRK1a by EGCG. This is important for parents who want to help their children now, not in 15 years. Clinical trials of these natural agents would help those of us who treat DS biomedically focus our treatment plans and determine appropriate doses.


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