World Down Syndrome Day 2013

For family members, friends, and compassionate helpers, Down syndrome is part of your daily reality. That’s true for us at DSRTF, too. We know the joy of loving people with DS — and we know the urgency of helping them build a future in which their promise can be fulfilled.

This month we take that message worldwide. March 21 — 3/21 — is World Down Syndrome Day. On this global awareness day, people around the world reaffirm their commitment to advocacy and inclusion, celebrating the vital role people with Down syndrome play in our societies.

The theme of this year’s WDSD Conference at the United Nations is “Right to Work,” focusing on the right of people with DS to earn a living in an inclusive, accessible labor market, and the importance of community support in making it a reality. We are proud that our work — delivering increased independence and opportunity through cognitive improvements — supports this imperative.

We hope you’ll help us celebrate through our efforts this month:

• 3/21 Matching. On Thursday, March 21, donations will be matched 3:1. Last year your WDSD contributions raised nearly half a million dollars for cognition research — by giving and sharing this opportunity with friends and family, you can make this year even bigger.
• Webinar: DS Cognition Research 101. This special presentation will offer an introductory look at Down syndrome cognition research: the science, the goals, the results thus far — and what you can do to help. Speakers from DSRTF and Roche will offer an informative, accessible look at current topics in DS research and the clinical trials currently underway. If you’re new to research or know someone who is, register now, then join us at 10 AM PT / 1 PM ET on Thursday, March 21 for this free online seminar. Register now.
• World Down Syndrome Day Map. Last year we invited friends to help us put DS on the map — to send in photos and statements about what an improvement in cognition could mean to their loved ones. Will you help us build on this effort? Send a photo along with a brief statement answering this question: “What could a 15% increase in learning, memory, and speech mean for your loved one with DS?” (Please include your name, your town, and the name of the person pictured.) Together we’ll show what a world of possibility could open up through continued research and progress.

We’re excited to celebrate the power and the potential of increased independence for people with DS worldwide — on 3/21 and every day.

In Memoriam: David Cox, Member of DSRTF’s Scientific Advisory Board

It is with sorrow and a sense of great loss that we share the news that David Cox, M.D., Ph.D., an inaugural member of DSRTF’s Scientific Advisory Board, died unexpectedly on January 21 at the age of 66.

A world-renowned geneticist, Cox is remembered as “a driving force and a highly valued leader,” by his colleagues at Pfizer, where he served as a senior vice president, heading genetics research at the company’s Rinat facility. We recognize and appreciate the unique viewpoint he brought to the SAB as a representative of the pharmaceutical industry; the practicality and pragmatism he brought to the group gave an essential real-world perspective to DSRTF’s direction.

Cox began his career in medicine, where his innate curiosity found its full expression: “I always just wanted to be a doctor,” he said in 2003, but “I got sucked into research early on in college…When I was in the process of finishing medical school I realized that we didn’t actually understand how anything worked.” It was that urge to discover that shaped Cox into the innovator and pioneer he would become; his contributions were instrumental, say his colleagues, to the success of the Human Genome Project.

We salute Cox’s significant professional accomplishments, which include serving as a professor of genetics and pediatrics at Stanford and co-director of the Stanford Genome Center; participating in several international and national councils and commissions; and being elected to the Institute of Medicine of the National Academy of Sciences. We believe his contributions to the field are unsurpassed, and we’re grateful for his diligence in moving research forward.

But beyond the far-reaching effects of his work, we knew him as a supportive, energetic colleague whose presence and enthusiasm for research helped animate the SAB’s proceedings. DSRTF’s Chief Scientific Officer Michael M. Harpold, Ph.D., remembers Cox as “a very bright, insightful, focused colleague and counsel. He was always serious about what was essentially important, but also had a sharp sense of humor — a wonderful person.” Noting that Cox had been involved in DS research in the past but had abandoned it due to a discouraging lack of progress in the field, DSRTF co-founder Patricia O’Brien White described the SAB’s first meeting: “David was excited about the new energy being focused on Down syndrome research,” she said, “excited about the possibilities. He looked around the room, smiled, and said, ‘Hey, I’m back.’”

Cox is survived by his wife and three children, to whom DSRTF extends our sincerest condolences. We will miss him greatly, professionally and personally. We thank David Cox for his service and his friendship, and feel honored to have known him.

Webinar Recap: Dr. H. Craig Heller on Sleep, Circadian Rhythms, and DS Cognition

Dr. H. Craig Heller, Stanford

“I’m a mouse doctor, not a people doctor,” began Craig Heller, and from there the audience was mesmerized. Dr. Heller, co-director of Stanford’s Down Syndrome Research Center, joined us for an informative webinar focusing on sleep, circadian rhythms, and their importance to cognition. But the mouse was the star of the show — specifically, the mouse on PTZ (pentylenetetrazole).

Dr. Heller described the basic aspects of how Down syndrome affects the brain, then gave us a fascinating précis of the mouse model of Down syndrome and how it’s used in research. He sketched out the design of studies used to test the effects of GABA_A antagonists on learning and memory in mice, and then detailed some of his and his colleagues’ findings on how these effects are enmeshed with the sleep/wake cycle: research shows that the improvements GABA_A antagonists confer on learning ability are circadian phase-dependent.

Eye-opening stuff, to be sure — but it was his description of the effects of mouse trials of PTZ that really electrified the audience. The resulting improvement in memory and learning, which Dr. Heller has called “remarkable,” seems to extend far beyond the course of drug treatment, making PTZ what Dr. Heller calls “an excellent candidate for clinical trials,” which he says are already underway in Australia.

Summing up his line of inquiry, Dr. Heller asked, “What is it about learning and memory that’s dependent on a particular time of day?” In their ongoing efforts, he and his colleagues continue to study the intricate mechanisms of sleep to discover how they influence cognitive impairment and recovery — and how treatments might work with our brain’s natural rhythms to achieve their highest efficacy.

Did you miss the live broadcast of this presentation, which concluded with a question-and-answer session? View the recording here. Dr. Heller has graciously made his slides available; those are also available for review. You can also view other webinars in our ongoing series of expert talks — visit www.dsrtf.org for this and other research updates as they occur.

Reeves Receives Lejeune Award

We offer our warm congratulations to cognition research pioneer and DSRTF grant recipient Dr. Roger Reeves, the latest recipient of the 2012 Sisley-Jérôme Lejeune International Award for Translational Research in Intellectual Disabilities.  This prize, granted by the Fondation Jérôme Lejeune, is given to “reward a researcher for his works concerning research with a therapeutic orientation on genetic diseases with intellectual disability,” according to the foundation, whose mission is to provide research, care, and advocacy to benefit those with genetic intellectual disabilities.

“This is an honor for me and for the many people who have contributed ‘at the bench’ in my lab over the years,” said Reeves. “But it is equally a tribute to those whose efforts demonstrate their support and encouragement for this work, without which nothing would have been accomplished at all.”

We thank Dr. Reeves for his continuing service to the field, and we’re proud to support him in his ongoing endeavors.  “It has been, and will be, a wonderful experience,” he said, “to be part of this multi-faceted effort to promote research for Down syndrome.”

One step closer with a Down syndrome patient registry

Great news!  We’re excited to share the NIH’s announcement of a Down syndrome patient registry.  After close collaboration with the community to assess needs and priorities, the NIH has committed to the initial funding and development of this registry specifically for people with DS. This registry will facilitate communication among families, researchers, clinicians, and patient groups, towards the goal of making it easier for patients to learn about and take part in clinical studies for new medications and other treatments for Down syndrome.

“DSRTF is extremely grateful to the NIH for the establishment and initial funding of this registry,” says Dr. Michael M. Harpold, DSRTF’s Chief Scientific Officer, “and we very much appreciate having the opportunity to work closely with the NIH on this important initiative.  The new registry will be crucial to facilitating and supporting new clinical studies and trials for the benefit of people with Down syndrome.”

In the past year DSRTF has welcomed the chance to participate in the NIH’s Down Syndrome Consortium, which fosters the exchange of information on Down syndrome research.  We are pleased and encouraged by the NIH’s commitment to creating an environment of collaboration and progress, and energized that with this announcement, we’ve moved one step closer to an even more effective partnership among researchers, clinicians, and families.

The NIH Is Listening…So Let Your Voice Be Heard

Since our founding in 2004, we at DSRTF have made it our mission to keep cognition research moving forward. As an active participant in initiatives like the National Institutes of Health’s Down syndrome consortium, we work hard to make sure research remains a priority in the national scientific agenda. Now you can join us in this effort by making your thoughts known.

Issued in 2007, the NIH’s Research Plan on Down Syndrome is currently under review to set research priorities for the next five years. The NIH has issued a request for information (RFI) soliciting comments about where the current plan succeeds, where it falls short, and what its future focus should be.

Points you may wish to consider for your response, courtesy of our Chief Scientific Officer, Dr. Michael Harpold:

• The published 2007 plan [PDF] was reasonably comprehensive regarding issues and areas of importance for Down syndrome, and the progress is appreciated. However, given both the apparent breadth and depth of the plan, NIH funding as it stands would appear to be inadequate to achieve the plan’s objectives.
• Sustained and increased support from the NIH has led to significant research progress towards understanding disorders like fragile X syndrome, cystic fibrosis, MS, and Huntington’s disease — many of which affect an equal or significantly smaller part of the population than DS. Proportionally, however, NIH funding for cystic fibrosis research is more than 50 times greater than for DS research, Huntington’s more than 35 times greater, fragile X more than 30 times greater, and so on.
  Given that Down syndrome affects more than 400,000 children and adults in the US, DS research is dramatically underfunded. Meaningfully proportionate increases in NIH funding for Down syndrome research are justified and essential.
• In concert with NIH-supported research, focused non-governmental research efforts and funding have led to unprecedented progress in cognition research, including the initiation of clinical trials. There should be a proportional increase in NIH funding and number of grants to accelerate and encourage further advances and progress in both basic and translational research.
• The cognitive disability significantly and globally affects all individuals with Down syndrome across their entire life span, justifying increased research and associated funding to explore the interrelationship of cognitive disability with other medical issues that can occur in concert with DS, such as sleep irregularities; obesity and metabolic problems; seizures, endocrine, and immune disorders.
• There has been recent progress toward developing a Down Syndrome Patient Registry and a commitment by NIH to contribute funding to initiate and establish it. Such a registry could have significant value to DS researchers and clinicians, but only if it is funded sufficiently, to the extent that it can be successfully established and operated on a multi-year basis, and with further support for research projects that will use and contribute in turn to the registry.
• Research progress has continued to demonstrate an invariable connection between Down syndrome and Alzheimer’s disease. The updated and revised plan should emphasize this more strongly, with appropriate objectives and funding to reflect the significant potential for the development of effective new therapies.
• The major revision of the NIH Down syndrome website already underway could provide an important tool to deliver more up-to-date information on Down syndrome research to the Down syndrome community as well as researchers and clinicians. A useful, comprehensive site would serve as a central clearinghouse for updates on NIH grant objectives and results; announcements of funding opportunities and initiatives; participation opportunities in clinical studies and trials; best and up-to-the-minute clinical practices; and reliable information on Down syndrome for parents and caregivers.

What areas of research are important to you and your family? What should the Plan’s objectives be? This is a rare opportunity for you to help shape the course of research directly. Your input is vital to ensure that the resulting plan reflects the concerns of the community it serves. Let the NIH know what matters to you by responding to the RFI by October 16.

Cognitive neuroenhancing drugs: Are they ethical?

A friend of plus15 on Twitter pointed out this article on BioEdge, which sums up the recent findings of a panel of ethicists:

Are cognitive neuroenhancing drugs ethical? German ethicists say no

The near frontier of human enhancement is coffee on steroids: the drugs of the future that will make you smarter, sharper and quicker. Even now, a quarter of American students are said to use psychostimulants. About 5% of workers in Germany use pharmaceutical drugs to enhance their cognitive functions. A survey in Nature once revealed that many American scientists regularly use ritalin and modafinil. This has led some bioethicists to advocate research into cognitive neuroenhancement as a matter of urgency.

This is misguided and risks being unethical, argue four German ethicists at the International Centre for Ethics in the Sciences and Humanities at the University of Tübingen in the latest issue of the Journal of Medical Ethics.

The ethicists cited contend that the two primary assumptions proponents of cognitive enhancers make are, in fact, incorrect.

First they refute the assumption that effective, safe neuroenhancers could exist. Instead, they declare that given the inextricable relationship between the neuronal mechanisms of cognition and addiction, any drug that could act to enhance function would inevitably incur a heightened risk of dependence.  The law of unintended consequences strikes again.

The second assumption they dismiss is that researching cognitive enhancement carries no moral ambiguity, that such research constitutes an inarguable good. To quote the paper’s abstract, “The potential for addiction, along with arguments related to research ethics and the potential social impact of neuroenhancement, could invalidate this assumption.”  In short, it could be unethical to expose study participants to the risk of addiction.

The BioEdge article sums up the panel’s conclusion boldly:

The danger of addiction is so great and so proximate and the potential benefits are so remote and hypothetical that on balance, it would be immoral even to conduct clinical trials.

Rather a definitive statement.  And considering the matter in the context of neuroenhancement for the neurotypical — the paper stipulates “already-healthy individuals,” so we extrapolate from there — that may be a fair argument to make.  To enhance a process that already works well enough is, after all, a luxury.

But from the plus15 perspective, where the issue is cognitive improvement for people with Down syndrome, the counterargument is that the potential benefit of enhancement is so great — so life-changing — that the prospect of dependence should be weighed differently in the balance.  For people with DS, neuroenhancement isn’t a question of being able to focus keenly on your job for nine hours instead of seven; it’s the difference between being able to live independently as an adult, for example, versus needing to remain under the care of your parents your entire life.  We believe that ability isn’t merely a luxury. We believe promoting it is an imperative.

That’s not to say we pursue progress heedless of the consequences it could have, or that we dismiss ethical questions about research — in fact, a vulnerable population demands greater care, not lesser, and the scientists we work with are deeply sensible of the obligation to proceed with exquisite caution and responsiveness.  We weigh these matters just as carefully as this panel of ethicists has.  But we consider different questions about a different population, and we come to a different conclusion.

Image courtesy of Calvero at Wikimedia Commons.