The Down Syndrome Research and Treatment Foundation is dedicated to finding a treatment to improve cognition including learning, memory and speech for individuals with Down syndrome. Since our founding in 2004 we have become the leading private source of funding in the United States for Down syndrome cognition research. Read about our results.
Announcing Our 2013-2014 Research Grant Awards
Over $9.6 million awarded to date
The entire DSRTF team is pleased and proud to announce our 2013-2014 Research Grant Awards. With the funding of these new grants, DSRTF has now provided over $9.6 million to advance Down syndrome cognition research. Recipients of this year's funding include researchers at Johns Hopkins University School of Medicine for their work with a network of institutions participating in the Down Syndrome Cognition Project; the University of California, San Diego; the University of Arizona; Stanford University; the VA Palo Alto Health Care System; and an international multidisciplinary research conference to take place in March 2014.
We're honored to support these exceptional investigators and their innovative research as they continue to take the field forward. DSRTF's Research Program and Grants have been instrumental thus far in addressing key strategic priorities on the research agenda and accelerating the advances that have led to the initiation of landmark new clinical trials. With this year's awards, we extend our substantial support of discovery, translational, and clinical research for new therapies to improve cognition for people with Down syndrome.
Dr. Michael Harpold, DSRTF's Chief Scientific Officer and Chair, Scientific Advisory Board, points out that DSRTF's support reaches beyond these direct awards. "The results made possible by DSRTF Research Grants have provided leverage for supported researchers to gain more than $10 million in additional research funding to date through the NIH and other sources." Without the generous financial support of our donors and supporters, these new advances, grants, and initiatives would not be possible. All of us at DSRTF join in expressing our gratitude for your commitment to delivering increased learning, memory, and speech for people with Ds. View the full list of awards.
Research Advance: Cognitive Deficits of DS May Be Linked to Stem Cell Defects
DSRTF-Supported Research Offers New Insight into Rapid Aging in People with DS
The learning and physical disabilities conferred by Down syndrome may be due at least in part to defects in the body's stem cell regulation — including some defects which can be alleviated by reducing the expression of just one gene on the 21st chromosome.
Led by Michael Clarke, M.D., and Maddalena Adorno, Ph.D., researchers at the Stanford University School of Medicine have released new findings in the September 11 issue of Nature Medicine showing that nerve, and other, stem cells affected by Ds do not grow or renew themselves as well as unaffected cells, and that this dysfunction can be corrected by lowering the expression of one particular gene — designated Usp16 — to more normal levels.
The findings, funded in part by DSRTF, offer new insight into the question of why people with Ds appear to age more rapidly, developing by age 40 the brain pathology associated with Alzheimer’s disease. Having three copies of chromosome 21, and therefore the Usp16 gene, "accelerates the rate at which stem cells are used during early development, which likely exhausts stem cell pools and impairs tissue regeneration in adults with Down syndrome,” said Stanford’s Craig Garner, Ph.D., co-director of Stanford’s Center for Research and Treatment of Down Syndrome, co-author of the study, and a DSRTF grant recipient. “As a result, their brains age faster and are susceptible to early-onset neurodegenerative disorders.”
The researchers found that reducing Usp16 overexpression provides what Clarke called “unambiguous rescue” at the stem cell level, restoring the growth of adult stem cells in different tissues, including those in the brain. “This could represent a potential new therapeutic target,” according to Dr. Michael Harpold, DSRTF’s Chief Scientific Officer, “to ameliorate some of the effects of early-onset aging.” Learn more.
Research Advance: Experimental Drug Normalizes Cerebellar Growth, Improves Cognition in DS Mouse Model
DSRTF-Supported Researchers Open New Avenue for Investigating Potential Therapies
A major study describing a significant new potential therapeutic interventionto improve learning and memory in Down syndrome has been published in the September 4 issue of Science Translational Medicine.
DSRTF-supported researchers at Johns Hopkins University School of Medicine, led by Dr. Roger Reeves, professor of genetic medicine, showed that in a mouse model of Down syndrome, a single dose of an experimental drug on the day of birth not only normalized the growth of the cerebellum, but also normalized learning and memory in a specific cognitive test.
Dr. Roger Reeves of Johns Hopkins University School of Medicine
The drug, SAG 1.1, activates an important biochemical signaling pathway called the sonic hedgehog pathway (Shh), an important new therapeutic drug target. Additional research will be required to determine precisely how the drug works through this pathway to improve learning and memory; to discover an optimal drug based on this approach; and to understand the wider ramifications of any therapy, since the Shh pathway is involved in so many crucial physiological processes. The potential for therapeutic applications in humans is as yet unknown, given the complexity of the pathway and the potential for unintended consequences. Nor is this approach to improving cognition all-inclusive: “Down syndrome is very complex,” cautions Dr. Reeves, “and nobody thinks there's going to be a silver bullet that normalizes cognition. Multiple approaches will be needed."
Still, the positive results of this work are hugely encouraging: This exciting research represents a completely new avenue for investigating potential therapies, according to Dr. Michael Harpold, DSRTF’s Chief Scientific Officer. “We’re extremely pleased to have provided critical grant funding to make this research possible,” he says, “and DSRTF is continuing grant support to Dr. Reeves and Johns Hopkins to advance this potential therapeutic strategy." We are proud to have underwritten Dr. Reeves’ groundbreaking work since 2007. With DSRTF’s ongoing support of this research, we continue our commitment to advancing discovery and translational research to improve learning, memory, and speech for people with Down syndrome.
Elan Announces New Clinical Trial in Down Syndrome
First Patient Dosing Takes Place in Safety Study
Biotechnology company Elan Corporation, plc, has announced the initiation of a Phase 2A clinical trial of ELND005 (scyllo-inositol) in young adults, 18-45 years of age, with Down syndrome. ELND005 is a molecule that may hold the potential to improve cognition in Ds by reducing aggregation of beta-amyloid, which is a product of the amyloid precursor protein (APP) encoded by a gene on chromosome 21 — thus preventing the intraneuronal buildup of beta-amyloid plaques that most people with Ds develop by their 40s — and addressing a metabolic abnormality in Ds that correlates with the severity of cognitive dysfunction. The study now underway will primarily evaluate the safety and pharmokinetics of the molecule, and will include select cognitive and behavioural measures. Learn more about this clinical study, including details on participation.
DSRTF Sponsors Alzheimer's Disease in Down Syndrome Conference
New UK Research Conference
We're pleased and proud to announce that DSRTF has awarded $10,000 to support and sponsor Alzheimer's Disease in Down Syndrome: From Molecules to Cognition. This research conference will take place from March 27-29, 2014, at the Wellcome Trust Genome Campus, Cambridge, UK. With participation by clinicians, geneticists, neuroscientists, and psychologists, this multidisciplinary meeting will focus on understanding the links between Down syndrome and Alzheimer's disease, with specific inquiry into dementia in Down syndrome at the neurological, cognitive, behavioral, cellular, and genetic levels.
We congratulate the conference organizers on this award, and we thank them for their efforts to further our understanding of the complex relationship between DS and AD, which may ultimately lead to therapeutic treatments to improve and extend cognitive function in people with Down syndrome. We look forward to working closely with organizers and participants to support this important and exciting new conference.
New Potential Therapeutic Target for Treatment
Study Shows Improved Cognition in Mouse Model of DS
A newly published study funded in part by DSRTF shows that an FDA-approved asthma drug already in use improves cognitive function in a mouse model of Down syndrome, providing evidence in support of a new therapeutic target, the beta-2 andregenic receptors in the hippocampus.
The drug, a bronchodilator called formoterol, was shown in the study to strengthen nerve connections in the hippocampus, a brain center used for spatial navigation, paying attention and forming new memories, the study said. It also improved contextual learning, in which the brain integrates spatial and sensory information. A high dosage of the drug was administered over a period no longer than two weeks, resulting in notable improvements in the mice's neuronal structures. "The fact that such a short period of giving medication can make these neurons much more complex is very interesting," said Stanford University's Ahmad Salehi, MD, Ph.D., the study's lead author and a DSRTF grant recipient.
Salehi called the study, published July 2 in Biological Psychiatry, an "initial proof-of-concept," cautioning that the dose he and his colleagues used was higher than that used in asthma treatment and cannot be safely adminstered to human patients without the risk of significant side effects. Nonetheless, these results hold great promise for new classes of drugs to target this receptor, with the goal of improving cognition in people with Down syndrome.
DSRTF is continuing support for this exciting research, and will provide updates on its progress.
NIH Launches Down Syndrome Patient Registry
Connecting Families and Individuals with Ds to Researchers
We're gratified and excited to pass along the news that the NIH has launched its national registry specifically for people with Down syndrome. This centralized information clearinghouse has been created to facilitate communication among families, researchers, clinicians, and patient groups, and will be crucial, says DSRTF's Chief Scientific Officer Dr. Michael Harpold, to facilitating and supporting new clinical studies and trials for the benefit of people with DS. We look forward to the enhanced information sharing it will allow, and we thank the NIH for its continued service to the DS community. Visit DS-Connect now!
Participation Opportunity: Study on Spoken Language Development
Individuals with Down syndrome between the ages of 6 and 23 are invited to participate in a major new multi-site research study funded by the NIH Eunice Kennedy Shriver National Institute of Child Health and Human Development. The study will examine different methods of sampling expressive language in children, adolescents, and young adults with DS to determine whether such measures could serve as useful indicators of efficacy in drug studies. This is a behavioral study and does not involve any use of medication. Learn more about this study and how to participate.
Roche's groundbreaking clinical trials
Global health care company Roche continues its landmark investigations into therapies for Down syndrome with its ongoing clinical trials. Learn more about these efforts, and find out how to participate.