LuMind Foundation and Research Down Syndrome Merge to Create Leading Source of Private Funding for Down Syndrome Cognition Research

LuMind Foundation and Research Down Syndrome have combined resources and programs. Together, these organizations contributed nearly $12 million to stimulate cognition research, resulting in the discovery of multiple drug targets and supporting the initiation of four clinical trials.

March 2, 2015 (Marlborough, Mass.) – The LuMind Foundation (formerly the Down Syndrome Research and Treatment Foundation – DSRTF) and Research Down Syndrome (RDS), worldwide leaders in advancing Down syndrome cognition research, together announce consolidation of the two organizations. The new foundation will pursue their shared mission more effectively and efficiently, and leverage the tremendous progress each has made to ignite Down syndrome cognition discoveries.

The merged organization will be named LuMind Research Down Syndrome Foundation. The LuMind Research Down Syndrome Foundation will be led by a national board of directors, consisting of board members from both organizations. Ryan Hartman will continue from his position as LuMind Foundation Chairman of the Board and Dan Flatley, Research Down Syndrome founder and Chairman, will serve as Vice Chairman.

Carolyn Cronin, recently named President and CEO, will lead the organization. Robert C. Schoen, Ph.D., formerly President, Research Down Syndrome, will be Director, Donor and Event Engagement. Dr. Michael Harpold will remain as the Chief Scientific Officer, leading the very successful research program. LuMind Research Down Syndrome Foundation will be consolidated and headquartered in Marlborough, Massachusetts.

“The LuMind Foundation and Research Down Syndrome have shared a mission of funding cognition research for people with Down syndrome and a Scientific Advisory Board for many years,” explained Hartman. “Our mission includes raising $25 million in five years to support Down syndrome research. Now we are coming together to speak with one voice on issues that are relevant to individuals and families in the Down syndrome community, and leverage resources to increase funds for research grants.” 

It is the mission of LuMind Research Down Syndrome Foundation to stimulate biomedical research to accelerate the development of treatments to significantly improve cognition, including memory, learning and speech, for individuals with Down syndrome enabling them to participate more successfully in school, lead more active and independent lives, and avoid the early onset of Alzheimer's Disease.

“Bringing the organizations together will increase our fundraising capacity and accelerate bio-medical programs that, in just a few years, have already demonstrated great success,” Flatley added.

Research funded by LuMind and Research Down Syndrome has led to the discovery of multiple pathways contributing to cognitive impairment that may serve as potential drug targets and four clinical trials testing possible drug therapies are currently underway.

About the LuMind Research Down Syndrome Foundation

LuMind Research Down Syndrome Foundation, formerly the Down Syndrome Research and Treatment Foundation (DSRTF) and Research Down Syndrome (RDS), is an international non-profit organization headquartered in Marlborough, Massachusetts, aimed at accelerating the development of treatments to significantly improve cognition, including memory, learning and speech, for individuals with Down syndrome. LuMind Research Down Syndrome Foundation is the leading source of private funding supporting research at major research centers, including Johns Hopkins Medicine, Stanford University, University of California, San Diego, and University of Arizona. Over the past decade, LuMind Research Down Syndrome Foundation has committed almost $12 million to fund results-driven research programs that will benefit children and adults with Down syndrome, and has been instrumental in the initiation of clinical trials now under way.

Research Down Syndrome Announces 2014/2015 Grant Awards to Fund Down Syndrome Cognitive Research

Research Down Syndrome (RDS) has announced funding for five grants to support Down syndrome cognitive research.

RDS is committed to supporting the identification of the causes of the intellectual impairments associated with Down syndrome and to facilitating the development of pharmacological therapies to improve memory, learning and communication in persons with Down syndrome, and to address the increased likelihood of Alzheimer’s disease. Encouraging progress has been made over a very short time. Three human clinical trials are underway, less than a decade after the support of private foundations stimulated the progress of Down syndrome cognitive research.

Research Down Syndrome, among the leading sources of private funding for Down syndrome related cognitive research, prioritizes funding towards programs with a high probability of readily contributing to the development of safe and effective therapies.  Continued private donations are needed to support the constantly expanding research efforts that will lead to potential medical treatments.

The 2014/2015 RDS Research Grants include:

Johns Hopkins University School of Medicine: RDS Research Center Grant entitled “A Down Syndrome Center for Fundamental Research”

Emory University School of Medicine: RDS Research Center Grant entitled “The Down Syndrome Cognition Project”

University of California, San Diego School of Medicine: RDS Research Center Grant entitled “Defining the Genes and Mechanisms and Treatments for Neurodevelopmental and Neurodegenerative Causes of Cognitive Dysfunction in Down Syndrome”

University of Arizona: RDS Innovation Research Grant entitled “The Neuropsychology of Down Syndrome”

Stanford University School of Medicine: RDS Innovation Research Grant entitled “Mechanisms Underlying the Roles of Sleep and Circadian Rhythms in the Learning Disability of Down Syndrome”

VA Palo Alto Health Care System: RDS Innovation Research Pilot Grant entitled “Improving Adrenergic Signaling for the Treatment of Cognitive Dysfunction in Down Syndrome”

Detailed information on these grants can be found here.

DS-Connect: The National Down Syndrome Registry

It has been nearly a year now since the NIH launched the first National Down Syndrome Registry. Participation in the registry is free and voluntary. Individuals with Down syndrome, or family members, on their behalf, may sign up to create personalized profiles with information about their health histories, including symptoms, diagnoses, and medical visits. The website has been designed to ensure that all information remains confidential. The site will separate users’ names from their health information, so that individuals may compare their health information with that of all other participants in an anonymous manner. Here is the link to DS-Connect: http://dsconnect.nih.gov/

If participants give permission to be contacted, the registry coordinator can inform them of research studies in which they may be interested. Results from these studies will help researchers better understand Down syndrome and how to treat its accompanying health problems across the lifespan.

This PDF link provides more detail on the registry: http://www.researchds.org/wp-content/uploads/2014/09/DS-Connect-Presentation_Reduced-File.pdf

Clinical Trials Update

In the past year, Roche initiated a new multi-national screening protocol to assess individuals with Down syndrome, aged 12-30. This is a screening protocol to assess adults and adolescents with Down syndrome for eligibility in an upcoming study of RG1662. Participants will undergo assessments to evaluate their eligibility for potential enrollment in an anticipated Phase II clinical study which will evaluate the efficacy, safety and tolerability of RG1662. This molecule has been demonstrated in mouse models to restore more balanced neurotransmission and improve learning. 

Balance Therapeutics is continuing its Phase 1b clinical trial at sites in Australia. The compound being studied in the trial, BTD-001 is well understood and has been in use for a variety of conditions for decade. The study is looking at the potential for BTD-001 treatment to improve memory, language, and learning.

Elan Corporation has a trial underway testing a compound that may reduce beta-amyloid aggregation. This aggregation is a contributor to plaque formation observed in persons with Alzheimer's disease. 

Our brief and informative infographic provides more detail on some of the pathways that contribute to cognitive impairment in Down syndrome. This useful primer on Down syndrome cognitive research is also available in print format. Contact info@researchds.org if you would like copies for sharing.

National Institutes of Health Research Plan on Down Syndrome – 2014 Draft

The NIH Research Plan for Down Syndrome is being updated. In 2012, a Request for Information (RFI) was published for comments on the plan, which originally was written in 2007. Linked here is the 2014 draft plan, which incorporated many of the comments gathered when the RFI was sent.
The elements of focus are:

•  Pathophysiology of Down Syndrome and Disease Progression
•  Screening, Diagnosis and Functional Measures of Ds related Conditions
•  Treatment and Management
•  Down syndrome and Aging
•  Research Infrastructure

Your attention is especially directed to pages 7-9, which outline Short/Long term Objectives for Treatment and Management. Cognition research and treatment is highly emphasized. If you have any comments, you may reply directly to the NIH here:downsyndrome@mail.nih.gov<mailto:downsyndrome@mail.nih.gov 
Of course, key to this objective is continuing to identify research funding resources. 
Thank you for your continued support of RDS in its role of funding research aimed at understanding and treating learning disabilities in Down syndrome.

Study describes Relationship between Obstructive Sleep Apnea and Cognitive Outcomes

Disrupted sleep is commonly observed throughout the lifespan of individuals with Down syndrome, with an observed incidence of 50-100%. Obstructive sleep apnea syndrome(OSAS) has been demonstrated in studies to be a key contributor to the loss of sleep quality in Down syndrome. OSAS increases with age.

The relation of OSAS to cognitive and behavioral impairment remains poorly understood. This study, supported in part by a Research Down Syndrome grant, describes cognitive outcomes in children with or without OSAS, ages 7-12. The study assessed cognitive outcomes with the Arizona Cognitive Test Battery, a set of psychometric measures that was designed and validated for this group.

The findings demonstrated a relation between OSAS and cognitive outcomes in Down syndrome. Among children with Down syndrome, mean Verbal IQ score was 9 points lower in those with OSAS than in those without OSAS. Performance on measures of cognitive flexibility was poorer, as well. 

The paper, published in Developmental Medicine and Child Neurology, may be found here.

Local Association Support of Down Syndrome Cognitive Research is Growing

An encouraging development is that local associations are adding research support to their program services. Sizable contributions to RDS and Down syndrome cognitive research have been made by Alexander’s Angels of Long Island, Northern New Jersey Down Syndrome Alliance, Down Syndrome Association of Greater Charlotte, Down Syndrome Association of Central Texas and Greater Clear Lake Families Exploring Down Syndrome. Thank You!

When all associations across the country begin following this lead, national support for Ds research will be fundamentally re-stated, leading to significant increases in funding and even more rapid progress of this remarkable medical initiative.

RDS can assist your organization in making a commitment to support research. Please reach out to RDS at info@researchds.org . It would be a privilege to meet with your association members and share the exciting progress of Down syndrome cognitive research.
Thank you so much for your continued assistance to the Down syndrome community!

Research Down Syndrome Announces 2013/2014 Grant Awards to Fund Down Syndrome Cognitive Research

Research Down Syndrome (RDS) has announced funding for five grants to support Down syndrome cognitive research.

RDS is committed to supporting the identification of the causes of the intellectual impairments associated with Down syndrome and to facilitating the development of pharmacological therapies to improve memory, learning and communication in persons with Down syndrome, and to address the increased likelihood of Alzheimer’s disease. Encouraging progress has been made over a very short time. Three human clinical trials are underway, less than a decade after the support of private foundations stimulated the progress of Down syndrome cognitive research.

Research Down Syndrome, among the leading sources of private funding for Down syndrome related cognitive research, prioritizes funding towards programs with a high probability of readily contributing to the development of safe and effective therapies.  Continued private donations are needed to support the constantly expanding research efforts that will lead to potential medical treatments.

The 2013/2014 RDS Research Grants include:

Johns Hopkins University School of Medicine: RDS Research Center Grant entitled “A Down Syndrome Virtual Center for Basic and Translational Studies-Cognition and Therapy in Down Syndrome”    

University of California, San Diego School of Medicine: RDS Research Center Grant entitled "Defining the Genes and Mechanisms and Treatments for Neurodevelopmental and Neurodegenerative Causes of Cognitive Dysfunction in Down Syndrome"

University of Arizona: RDS Innovation Research Grant entitled “The Neuropsychology of Down Syndrome”

Stanford University School of Medicine: RDS Innovation Research Grant entitled “Mechanisms Underlying the Roles of Sleep and Circadian Rhythms in the Learning Disability of Down Syndrome”

VA Palo Alto Health Care System: RDS Innovation Research Pilot Grant entitled “Improving Adrenergic Signaling for the Treatment of Cognitive Dysfunction in Down Syndrome”

Detailed information on these grants can be found here.

Faulty Stem Cell Regulation may contribute to Cognitive Deficits Associated with Down Syndrome

Research Down Syndrome grantee Dr. Craig Garner was co-author of a just released paper out of Stanford University. The report described studies using both human skin cells and the Down syndrome mouse model Ts65Dn in deciphering the impact of a gene named Usp16 on stem cell growth. (Stem cells are unspecialized cells that renew themselves and function as a primal source of tissue or organ specific cells with special functions.) The gene Usp16 is found on human chromosome 21 and thus in triplicate copy in persons with Down syndrome. In experiments testing human cells, researchers discovered that an excess of Usp16 in cells from people without Down syndrome caused skin cells to grow more slowly. Also, reducing Usp16 in skin and nerve cells in people with Down syndrome allowed the cells to have normal growth patterns rather than to regenerate slowly.

In the model study using the Ts65Dn mouse with gene Usp16 in triplicate, researchers found that neural stem cells from the mice were less able to self-renew and grow normally than were cells from mice with a duplicate copy. When the researchers reduced the expression of Usp16 in the cells from the Ts65Dn mice to more normal levels, these functional defects were largely corrected. Dr. Garner said that the extra copy of chromosome 21 and the Usp16 gene may speed up the rate that stem cells are used during early development, exhausting the stem cell pools needed to regenerate tissues as adults. Dr. Garner stated further, "This study suggests that drug-based strategies to slow the rate of stem cell use could have profound effects on cognitive function, aging and risk for Alzheimer’s disease in people with Down syndrome".

Michael Clark M.D. was senior author of this paper.

More information on this interesting study may be found in this release issued by Stanford University:

http://med.stanford.edu/ism/2013/september/clarke.html  

NIH Launches First National Down Syndrome Registry

Exciting News from Washington, DC!! The National Down Syndrome Patient Registry is now a reality. What a tremendous step forward for research!

RDS just received this notification from Dr. Yvonne Maddox from NIH/NICHD… It says it all.

"We are thrilled to tell you that as of this morning, DS-Connect™: the Down Syndrome Registry, is up and running!

http://dsconnect.nih.gov/

Our goal has always been to improve the lives of people with Down syndrome and their families, and we hope this step will bring us closer."

Here is the text from the press release:

The National Institutes of Health has launched DS-Connect, a Web-based health registry that will serve as a national health resource for people with Down syndrome and their families, researchers, and health care providers. 

“The Down syndrome community has voiced a strong need for a centralized, secure database to store and share health information. DS-Connect fills that need, and helps link individuals with Down syndrome to the doctors and scientists working to improve their health and quality of life,” said Yvonne T. Maddox, deputy director of the NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), which funded and developed the registry.

Participation in the registry is free and voluntary. Individuals with Down syndrome, or family members, on their behalf, may sign up to create personalized profiles with information about their health histories, including symptoms, diagnoses, and medical visits. The website has been designed to ensure that all information remains confidential. The site will separate users’ names from their health information, so that individuals may compare their health information with that of all other participants in an anonymous manner. 
If participants give permission to be contacted, the registry coordinator can inform them of research studies in which they may be interested. Results from these studies will help researchers better understand Down syndrome and how to treat its accompanying health problems across the lifespan.
“DS-Connect is for people of all ages, not just children,” said Dr. Maddox. “Right now, we don’t have much data on older individuals with Down syndrome, and that’s been a problem. People with Down syndrome are living longer, and researchers and physicians will require information about the health issues and needs of these individuals to make recommendations about their health care.”

The Down Syndrome Consortium, a public-private group established in 2011 to foster the exchange of information on Down syndrome research, will be a critical player in helping to disseminate information about the registry to the Down syndrome community. The consortium includes individuals with Down syndrome and their family members, representatives from professional societies and advocacy groups, and NIH scientists.

“We’ve been fortunate to have so many experts and advocates provide input on this effort,” said Dr. Maddox. “The establishment of this registry is a tremendous step forward for Down syndrome research, and the resource will become all the more beneficial as more individuals join in the months and years ahead.”