Monthly Archives: February 2012

Light the Way Campaign Endorsed by Governor First Spouses

Research Down Syndrome is pleased to announce that New Jersey Governor First Lady Mary Pat Christie and other Governor First Spouses are sponsoring the “Light the Way” event. This program will take place on World Down Syndrome Day, March 21, 2012, bringing attention to the rapidly advancing area of Down syndrome cognitive research, which holds great promise for improving memory, learning and communication for individuals of all ages with Down syndrome.

Last year, and again this year, First Spouses will promote this campaign by lighting up their respective governor residences in the color blue or engaging in other promotional activities such as displaying the Light the Way initiative on their website, bannering the event on social network platforms, or issuing state news releases, thereby bringing increased attention to Down syndrome cognitive research.

RDS encourages individuals across the country to contact their state government office and request that their state participate in this event.

Scientific Advisory Board Member wins 2012 Wolf Prize in Medicine

RDS congratulates Scientific Advisory Board member Ronald Evans, for being selected as the recipient of the 2012 Wolf Prize in Medicine. This recognition is Israel’s highest award for achievements benefitting mankind. Dr. Evans is a professor and head of Salk Institute’s Gene Expression Laboratory. The Wolf Prize jury selected Evans for his discovery of the gene super-family encoding nuclear receptors and elucidating the mechanism of action of this class of receptors. A major achievement in Evans’ lab was the discovery of a large family of of receptor molecules that respond to various steroid hormones, Vitamin A and thyroid hormones. These hormones help control sugar, salt, calcium and fat metabolism; thus, they impact on our daily health as well as treatment of disease. The receptors Evans discovered are primary targets in the treatment of breast cancer, prostate cancer and leukemia, as well as osteoporosis and asthma.

The Roche Report: Notes from an Evening of Research

Much of what we do in Down syndrome cognition research necessarily focuses on the future instead of on the “now.”  The research life cycle is laborious and long, and progress is incremental.  The process can seem painfully protracted when we look at it from the outside as parents, families, and friends who are eager for breakthroughs in treatment.

That’s one reason last night’s presentation was so exciting.  More than 300 people gathered in the Chicago area for a program put together by local parents’ group UPS for DownS.  They were there to learn about the Roche study of RG1662 — early-stage clinical trials of the first potential therapy designed to improve cognition in people with Down syndrome.

The multi-site study, which is now recruiting, will test the safety and tolerability of the drug in question in a small group of subjects with DS between the ages of 18-30.  Depending on results, the next step is to test the drug’s efficacy in improving attention and memory.  Later-stage clinical trials will involve a broader group of subjects and a deep, detailed examination of how well the drug works.  Fast-forward through the process, and maybe — just maybe — the eventual outcome will be what the formal documentation dryly calls “an improvement in communication, behavior, or daily living in the subject,” and what we call greater success in school, more opportunities in the workplace, and increased independence and fulfillment for the people we love with DS.

Elizabeth Berry-Kravis, MD, PhD

The presentation, featuring investigators Dr. Cesar Ochoa-Lubinoff and Dr. Elizabeth Berry-Kravis and moderated by UPS for DownS board member Dr. Nancy Keck, was meticulously detailed.  Drs. Ochoa-Lubinoff and Berry-Kravis went into some depth to describe the isolated structures in the brain they expect BP 5186582 to target and explain the desired neurochemical effects.

Cesar Ochoa-Lubinoff, MD

DSRTF’s Margie Doyle, who also addressed the group, found an extremely interested and engaged audience, and said the excitement was palpable: “There was a great deal of buzz at the end of the program, and many people speaking about how to get involved.  It was a wonderful feeling!”

Yes, we’re still focused mainly on the future, with long-term studies still to come.  But that future feels much closer now that trials are underway. In light of this tangible evidence of progress, there was a lot of hope in the room last night.  And there’s a lot of hope here at the DSRTF, too.  Dr. Michael Harpold, our Chief Scientific Officer, says the trials represent “years of hard work and dialogue between industry executives, scientists and families coming to fruition.”  In line with our goal of identifying and supporting the most promising research in Down syndrome cognition treatment, we’re proud to be a supporter and collaborator in this effort.  We’re thrilled to be part of a process that may indeed be slow, but could bring such great rewards.

Thank you to UPS for DownS for making this event happen.  To learn more about the study or to apply as a participant, visit Roche’s Clinical Trial Protocol Registry.  We’ll keep you up to date here, too, and on

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.

DS Research 101: Part 1

New to the idea of Down syndrome research and treatment? Or just want to brush up on your knowledge? Here are some common questions we hear. This is part 1, in which we take a quick look at DS cognition research in general.

What is Down syndrome?
Down syndrome is a genetic condition caused by an error in cell division that occurs at conception. It entails an extra copy of the 21st chromosome; a person with DS has 47 chromosomes instead of the usual 46. This extra genetic material disrupts the normal course of fetal development, resulting in certain common physical signs and other less predictable traits: the extra chromosome can cause a wide range of health problems, and produces varying degrees of intellectual disability.

For most people with Down syndrome, cognitive impairment falls in the mild to moderate range, and they experience speech and language difficulties. This particular aspect of Down syndrome — cognition, the process of acquiring knowledge — is what our research addresses.

Isn’t Down syndrome too complex to treat?
Many of the physical problems associated with DS are already being treated; heart defects can be repaired surgically, for example, and poor vision and hearing can be improved through fairly simple means. Treating the cognitive effects of DS — reducing the severity of impairment in an individual and improving overall function — is admittedly a more complicated proposition.

Still, we believe it can happen. Over the last decade, scientists have made exciting strides toward that goal. The DS cognition research we promote is currently following two promising avenues of inquiry:

The genetics-based approach.We now understand how specific genes correspond to specific abnormalities in brain structure and function. Although each chromosome carries hundreds of genes, researchers suspect there may be only a handful of those that significantly affect cognitive ability. Once researchers have isolated the effects of that particular handful, we can begin to determine how the expression of those genes causes problems with cognition — an essential step in developing effective therapies.

The mouse model approach. To understand the physical differences of the brain affected by DS and the resulting functional impact, researchers look to the mouse. In general terms, the process involves examining mice with Down syndrome — yes, really — to identify which specific mechanisms in the brain are responsible for cognitive impairment; as these mechanisms are established, scientists can begin to pursue appropriate treatments.

The diligent work of these researchers is already proving that Down syndrome isn’t too complex to understand. Based on their results so far, we predict that it’s not too complex to treat, either.

So does treating DS mean a cure?
No, once a child with DS is conceived, the extra chromosome is there to stay. Still, eventually we may able to reverse or improve the cognitive deficiency it causes. No one can say for sure how much of an improvement we can hope for, but even a modest increase of 15 IQ points could have a profound impact on the life of someone with Down syndrome. For those who are mildly or moderately impaired, meaning the majority, those extra 15 points could mean greater independence and fulfillment in school and in the workplace. We’re not proposing a cure for Down syndrome. We’re working toward the promise of greater opportunity — and a more secure future — for the people who have it.

In part 2 we’ll talk about our organization’s specific research objectives. In the meantime, we’d be happy to take on any questions you have about DS research and treatment — do let us know what you’d like to know, and join us again next week as we continue the conversation.

Image adapted from the Genome Management Information System, Oak Ridge National Laboratory.

Why It’s Time for the plus15 Blog

Now is an exciting time for people whose lives are touched by Down syndrome. Society is moving closer to a matter-of-fact acceptance and inclusion of people with DS, and the change is perceptible. Poor Becky gets her heart broken on Glee — not in a contrived, “very special episode” way, but in the ordinary way every high schooler does. A cute kid with DS appears in a retail ad, and no one makes a big deal about it (that is, unless you count those of us who’re thrilled that no one made a big deal about it). Hundreds of active bloggers and tweeters share the everyday reality of parenting a child with DS — they have good days and bad days, too — quietly spreading the message that raising a child is equal parts work and wonder, regardless of how many chromosomes. A gutsy teenager tells another not to say, “retarded,” simply and directly; the correction is made, both teens move on, and maybe one more mind is changed.
It's time for plus15.Collectively, then, we’re coming to understand that disability is part and parcel of the human experience, and that on the one hand, we should certainly celebrate diversity — but that on the other, everyone benefits when we accept it as a natural condition and accommodate it without a fuss.

This cultural inclusion is a huge hopeful step forward for us all.  Add to this the statistic that the life expectancy for someone with DS has doubled in the last 20 years, and the fact that scientists are making strides in DS cognition research that we couldn’t have guessed at even eight short years ago, and there are lots of reasons to be optimistic about the future.

But there’s also reason for concern.  About 400,000 people in the United States have Down syndrome, but despite its relative frequency of occurrence, the government provides less in funding for DS research than it spends for similar disabilities — 30 times less — only $55 per individual with DS annually.  And without the money to pay for it, the promise of DS cognition research may go unfulfilled.

Here at the plus15 Blog, we want to tell you about this research.  We want to show you why it’s important.  We want you to know what it could mean for people who live with Down syndrome — not just the people who have it, but the people who care for them, too.  We want to spur you to imagine how these lives could be transformed with just a 15% improvement in learning, memory, and speech.  And we want to hear your voice — we hope you’ll share your stories.

Each week you can expect us to discuss the research that’s happening around the country and why it matters. We’ll talk to researchers about their work, have guest bloggers share their experiences, and give accessible breakdowns of the science behind the research that is plus15’s reason for being. Thank you for joining us here on our blog.  We welcome your thoughts, ideas, and questions.  We’re excited to begin demystifying DS research, and we hope you’ll be energized by the possibilities.