News and Events :: DSRTF News

Winter 2006 Newsletter

The momentum behind Down syndrome research is building . . . 
Be a part of the breakthrough!!! 

Letter from the Executive Director

Dear Esteemed Member,

The past year proved to be a monumental one for the Down Syndrome Research and Treatment Foundation (DSRTF). Throughout 2006, DSRTF continued to play a leading role in energizing the field of Down syndrome cognition research, attracting new talent to the field, and moving closer to our stated mission of identifying treatments that will improve cognition in adults and children with Down syndrome. Your support has enabled research breakthroughs that have propelled the field of Down syndrome research forward and given realistic hope to those with Down syndrome that a treatment to prevent cognitive decline is forthcoming.

In addition to research breakthroughs, this past year's accomplishments have validated DSRTF's three-fold approach of maintaining a narrow focus on cognition research, encouraging collaboration among researchers, and attracting new talent to the field of DS research. Our goals for the upcoming year incorporate these same values as we anticipate an exciting new phase for the promising work in this field. We hope we can count on your continued support as we continue to advance in the following areas of interest:

• Mechanism identified and linked to Alzheimer’s disease: This past July, DSRTF-funded scientist Dr. William Mobley of Stanford University’s Center for Research and Treatment of Down Syndrome published his latest research findings in the medical journal Neuron. Dr. Mobley’s work identified and linked a specific gene associated with cognitive impairment in DS to the cognitive decline experienced in Alzheimer’s disease. In the coming year, DSRTF plans to fund investigations focused on regulating and controlling this gene.


• Laying the groundwork for clinical trials: Last year, DSRTF funded Dr. Craig Garner’s pioneering research at Stanford University. Dr. Garner’s investigations focus on identifying compounds that block the effects of an overproduced neurochemical in the brains of the trisomic “Down syndrome” mice. Blocking this neurochemical results in improved cognition in the “DS” mice. In the coming year, DSRTF will establish relationships with Down syndrome clinics to ensure that resources and participants are available for clinical trials once Dr. Garner identifies the most promising compound to achieve this desired goal.


• Attracting talented advisors and new researchers: DSRTF believes that success will come from identifying the most promising research areas and directing resources to these areas. Therefore, DSRTF has established a Scientific Advisory Board, composed of a prestigious group of scientists, to 1) assess and critically evaluate the status of current Down syndrome cognition research, 2) identify and review novel ideas and approaches, 3) identify and prioritize those areas where active investment in basic and clinical research and development is needed and may be most productive, and 4) review DSRTF research grant proposals and provide critical perspective, recommendations, and prioritization. Everyone at DSRTF is extremely excited to have such a prestigious group of scientists working with us on Down syndrome research.


• Sharing resources: DSRTF realizes that without collaboration, success is virtually impossible. Therefore, we encourage all of our grant recipients to collaborate and share resources with other research facilities across the country. To this end, DSRTF funded researchers have been able to share Down syndrome mouse models, tissue samples, and information with researchers from the University of Pennsylvania, University of California- Berkeley, University of California- Irvine and a number of other research facilities across the country. More collaboration between research facilities and DS clinics will be established in the coming year.

The next steps for DSRTF are clear and we are confident that with your continued support we will be able to provide individuals with DS a chance to lead more independent lives as adults. We welcome your support and look forward to what the future has in store for Down syndrome research. 

On behalf of everyone at DSRTF, I would like to extend the warmest holiday wishes to you and your family.  

Warm regards,  

Na’eem A. Salaam
Executive Director 

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The Research Year in Review: 2006 Progress Report

This year witnessed progress on several fronts in our mission to fund research that is focused on discovering the cause of, and developing treatment for, cognitive problems in individuals with Down syndrome. Some research highlights from 2006 include:

This year witnessed progress on several fronts in our mission to fund research that is focused on discovering the cause of, and developing treatment for, cognitive problems in individuals with Down syndrome. Some research highlights from 2006 include:

This year witnessed progress on several fronts in our mission to fund research that is focused on discovering the cause of, and developing treatment for, cognitive problems in individuals with Down syndrome. Some research highlights from 2006 include:

1. Confirmation that an imbalance in the activity of inhibitory and excitatory circuits plays an important role in cognitive difficulties in mouse models of Down syndrome. Ongoing studies are addressing the molecular and cellular basis for the changes discovered. In particular, studies are focused on investigating the changes in the proteins that mediate inhibitory neurotransmission in hopes of defining abnormalities that may be approached in new treatments. This work in carried out in several laboratories, including the Mobley laboratory (Stanford University), in collaboration with the Malenka laboratory (Stanford University), and through collaboration between the Garner and Madison laboratories (Stanford University).


2. Studies of the structure of synapses in cognitive circuits continues to yield important new insights. This year researchers narrowed the list of the gene(s) responsible for the changes noted. Noteworthy is the belief that this same list of genes appears to also mediate the difficulties with learning. This work was carried out largely in the Mobley laboratory, but with important collaborations with the Garner and Madison laboratories and with Dr. Eliezer Masliah (University of California in San Diego).

   
   (L to R): Dr. Craig Garner and Dr. William Mobley

   Ongoing studies will attempt to define which genes are involved and how they operate to cause the problems noted.



3. The extra copy of the gene for the Amyloid Precursor Protein (APP) plays an important role in the degeneration of cholinergic neurons important for attention, learning and memory. This past year, researchers confirmed the effect of increased gene dose for APP and its effects on the transport of NGF, a neurotrophic factor for cholinergic neurons of the basal forebrain. In ongoing studies in the Mobley laboratory, we are defining the mechanism(s) for inhibition of trophic support and degeneration of neurons and attempting to find small molecules that could be used to combat the defects.


4. Early evidence for abnormal mitochondria in the mouse model. In a new collaboration with Dr Ting-Ting Huang (Stanford University), researchers have uncovered evidence that mitochondrial function may be abnormal. In current studies a defect in energy production is being pursued, as are studies of how such a defect could be repaired.


5. Collaborations are expanding to accelerate progress. With increased funding for the work, various labs at Stanford University have been able to expand their list of collaborators and potential projects. An important priority is providing mice for use by other investigators and studies to create new versions of the mouse model so that genes responsible for cognitive problems can be identified more rapidly.

Your support and contributions have helped to make these groundbreaking research discoveries possible. DSRTF is very proud of all the research that took place in 2006 and we are eagerly looking forward to what 2007 has in store for T21 cognitive research. Kudos to all of the scientists doing this remarkable work!

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Introducing DSRTF’s Scientific Advisory Board 

The Down Syndrome Research and Treatment Foundation is pleased to announce the formation of its charter Scientific Advisory Board. The Scientific Advisory Board will provide perspective, advice and recommendations to the DSRTF Board of Directors. This guidance is instrumental to the achievement of DSRTF’s mission of advancing biomedical research that will result in the development of treatments to improve cognition in those with Down syndrome. The charter members include:

* William Cohen, M.D.- Children’s Hospital of Pittsburgh 
* David Cox, M.D., Ph.D.- Perlegen Sciences, Inc. 
* Ronald Evans, Ph.D.- Salk Institute for Biological Studies 
* Michael Harpold, Ph.D.- EnkephaSys 
* Eric Kandel, M.D.- Columbia Universty, College of Physicians & Surgeons 
* Leslie Leinwand, Ph.D.- University of Colorado 
* Lynn Nadel, Ph.D.- University of Arizona 
* Roger Reeves, Ph.D.- Johns Hopkins School of Medicine 

"With the establishment of the SAB, DSRTF has assembled a diverse group of truly exceptional biomedical researchers and clinicians focused on re-energizing cognitive research and development for individuals with Down syndrome," said Patricia White Flatley, M.D., Chair of the DSRTF Research and Treatment Committee and the parent of a son with Down syndrome. "The recent profound advances in biomedical research and technologies provide an unprecedented opportunity to significantly impact research on cognitive mechanisms associated with this complex genetic disorder," she added.

Dr. Michael Harpold, Chair of the SAB, elaborated, "The SAB’s mission is to evaluate research and studies that have the highest probability of yielding findings and treatments to improve cognitive abilities, as well as the quality of life, for those with Down syndrome. As a part of its initial role, the SAB will focus on identification of promising new research ideas and approaches, as well as studies to accelerate translation of discoveries into potentially efficacious new treatments."

Jack Dean, whose 27 year-old son has Down syndrome, has been a strong proponent of medical research on the improvement cognitive functioning. Mr. Dean expressed his belief that the Scientific Advisory Board will accelerate the growing support for DSRTF’s research effort. Mr. Dean commented that, "In the past individual parents would advocate for crucial basic research. This esteemed Scientific Advisory Board will provide a focused approach, allowing parents to centralize their efforts, leading to a greater likelihood of early success."

The inaugural meeting of the SAB will be held in February 2007. Additional information about the Scientific Advisory Board, including member biographies will be available in the near future on the DSRTF website.

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New Cities, New Events, New Momentum

The momentum behind Down syndrome research is building and more and more cities across the country are taking an interest in what we are doing and becoming a part of the breakthrough. From research seminars to a Romp for Research, DSRTF is attracting national attention all in support of Trisomy 21 research. A few of the noteworthy new events from the latter half of 2006 are mentioned below:

DSRTF Takes a Bite Out of the Big Apple!!!
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On October 6, 2006, in conjunction with the Judy Center and the Hackensack University Medical Center, the New York-New Jersey Committee for Down Syndrome Research hosted Dr. William Mobley in New York City to present his latest research findings at a seminar entitled "Exploring Down Syndrome Cognition: From Discoveries to Treatment".

The seminar, which was held at Proskauer Rose, LLP, featured Dr. Mobley discussing his latest research findings as well as outlining the future direction of Trisomy 21 research. The engrossed crowd consisted of parents, siblings, and friends of loved ones with Down syndrome, as well as interested caregivers and community leaders. The event was a huge success and served as a wonderful prelude to DSRTF’s first ever Romp for Research that took place two days later . . .

Are You Ready to Romp and Roll?!

Spearheaded by New York-New Jersey Committee for Down Syndrome Research co-chairs Stephen Lazare and Anthony Providenti, New York's beautiful Asphalt Green served as the site of the DSRTF's first ever Romp for Research! On October 8, after hearing all about the direction of Down syndrome research from Dr. Mobley, families were encouraged to participate in a day of arts & crafts, games, and activities to help raise support and awareness for Trisomy 21 research.

(L to R): Anthony Providenti (Troy's Boys and Girls), Na'eem Salaam (DSRTF), Steve Lazare (Anna's Amigos), Anna Lazare (the star of Anna's Amigos)

Over 500 people attended the event and participated in a variety of activities from face painting to a wiffleball homerun tournament. In addition to the various games and activities, New York's own Hoop Wizard entertained the crowd by spinning basketballs and using volunteers to help execute amazing basketball stunts! The crowd also received a very special visit from a group of New York City fire fighters! Kids, both young and old, were able to climb aboard a real New York City fire engine and pretend, for a brief moment, that they were part of New York's finest!

New York's Hoop Wizard entertaining the crowd with the help of a very special volunteer

Needless to say, the Romp was a huge success. Committees are planning future Romps to take place in New Jersey, North Carolina and California. If you are interested in joining an organizing committee, or if you would like to put together a Romp for Research in your area, please do not hesitate to contact DSRTF to discuss your ideas!

The Down Syndrome Research and Treatment Foundation would like to thank our sponsors whose generosity made the Romp for Research a success- Gold Level Research Sponsors: The Danaher Companies/Sullivan-Schein Dental. Silver Level Research Sponsors: Ford Motor Company; Henry Schein, Inc.; Howard Lorber and the Lorber Charitable Fund; Lazare Potter Giacovas & Kranjac, LLP. Research Fellow Level Sponsors: Bob's Discount Furniture; IMAX Corporation; J.H. Whitney Capital Partners, LLC; Lazare Lincoln Mercury; Studley, Inc. In addition, the weekend's events would not have been possible without support from IKON, On Site E-Discovery, Proskauer Rose LLP, Sage Deli, and Strategic Group.

Finally, DSRTF we like to send a special thanks to the New York-New Jersey Committee for Down Syndrome Research- Anthony Providenti, Stephen Lazare, Jack Dean, Tom Kostopoulos, Vince Randazzo and the rest of the volunteers working with them to ensure the event's success. Without everyone's hard work, none of this would have been possible. For more photos from the event, visit Anna's Amigo's or Troy's Boys and Girls!

Delaware, Pennsylvania
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On August 25, 2006, with the help of Jack Dean and many others, Lisa Piserchio hosted a benefit golf outing at the Water Gap Country Club in Delaware, PA. With hole sponsorships and many donations from family, friends, companies and local businesses, Lisa’s group was able to raise over $19,000 dollars for DSRTF and Down syndrome research.

A beautiful day for golf at the Water Gap Country Club

“It was amazing to see so much support for such a worthwhile cause. What a special feeling! What a special day!” –Lisa Piserchio

To read Lisa's inspirational story, click here.

Pittsburg, Pennsylvania
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The Down Syndrome Research and Treatment Foundation would like to recognize the generosity of Mr. John Hewitt, President of Aker-Kvaerner Songer, and the rest of the AK Songer team for organizing and hosting the Sixth Annual Aker-Kvaerner Songer Charity Golf Classic. Every year, AK Songer holds a charitable golf tournament to benefit a nonprofit organization dedicated to making positive social changes in our communities. DSRTF was chosen as the recipient of this year's event!

Located on the majestic golf course at the Nemacolin Country Club in Beallsville, PA, AK Songer's afternoon of golf and activities proved to be quite entertaining as well as a great forum to outline recent breakthroughs in DS research.

AK Songer has a long history of making generous contributions to nonprofit organizations across the country. DSRTF is proud to be the latest addition to AK Songer's distinguished list of charitable recipients. Once again, thanks to the wonderful people at Aker-Kvaerner Songer for supporting DSRTF and Down syndrome research!

Los Angeles, California
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This past November, Hollywood, CA set the stage for DSRTF’s first Southern California research presentation and dinner. Located off of Hollywood Boulevard, the historic and beautiful American Society of Cinematographers Clubhouse hosted DSRTF’s evening event for over 100 parents eager to hear about T21 research breakthroughs.

The American Society of Cinematographers Clubhouse- Hollywood, CA

Suzanne Lezotte, Jennifer Caras, Jen Burns, Martha Winterhalter, Darryl Mikuni, and the other members of the Southern California Committee for Down Syndrome Research organized a wonderful evening complete with cocktails, dinner, door prizes, and raffle prizes. Dr. William Mobley was the keynote speaker and did a wonderful job describing his research and outlining the future of T21 investigations.

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If you are interested in becoming an Adopt-A-Mouse Campaign Sponsor in your community, contact DSRTF today!!!