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The Down Syndrome Research and Treatment
Foundation (DSRTF), a leading funder of Down syndrome cognition research,
announced their fundraising target of $2 million for 2007 during the
inaugural meeting of its Scientific Advisory Board (SAB). Citing the
importance of advances made quietly during the past five years, DSRTF is
challenging the medical research community to review both the science and
the inaccurate positioning of the Down syndrome disorder.

“In establishing and convening the SAB, an effort spearheaded by DSRTF
Board of Directors member Pat White, M.D., the Foundation has taken a
further step towards achieving the goal of engaging and galvanizing the
public, medical community, and scientists with a changed perception
regarding the merit and significant potential of Down syndrome cognition
research,” said Patricia O’Brien-White, co-founder of DSRTF. “Cognition
research — the study of information processing by the brain, including
learning and memory, and associated disorders — presents a different side
of Down syndrome: the as yet untapped capacity of the individual with Down
syndrome to achieve cognitive abilities beyond what anyone ever expected.
This research will dispel any impressions that it is futile to expect
people with Down syndrome to lead independent lives.”

DSRTF sought to assemble a group of high caliber scientists with areas of
expertise relevant, but in some cases not yet applied, to the study of Down
syndrome, based on the Foundations’ conclusion that interdisciplinary
approaches are essential to accelerate research and ultimately provide
meaningful therapies. The DSRTF SAB members’ areas of expertise encompass
the fields of Down syndrome research, neuroscience, including Alzheimer’s
disease research, molecular cell physiology and metabolism,
genetics/genomics, and drug discovery. DSRTF SAB members include a Nobel
laureate, Lasker Medical Research Award winners, and members of the
National Academy of Sciences and Institute of Medicine; current members are
listed below:

--  William Cohen, M.D.  Children's Hospital of Pittsburgh.
--  David Cox, M.D., Ph.D.  Perlegen Sciences, Inc.
--  Ron Evans, Ph.D.  Salk Institute for Biological Studies and  Howard
    Hughes Medical Institute.
--  Michael Harpold, Ph.D. EnkephaSys, Inc.
--  Eric Kandel, M.D.  College of Physicians and Surgeons, Columbia
    University and Howard Hughes Medical Institute.
--  Leslie Leinwand, PH.D.  University of Colorado.
--  Lynn Nadel, Ph.D.  University of Arizona.
--  Roger Reeves Ph.D.  Johns Hopkins School of Medicine.
    

Dr. Bill Cohen, Director of the DS Clinic at the Children’s Hospital of
Pittsburgh for 17 years, is a leader in addressing the medical and social
needs of the DS population. Dr. Cohen stated, “Parents of children with
Down syndrome are told that there are no therapeutic interventions
available to improve cognition and memory skills for a child with Down
syndrome. The conversation usually ends there.” Dr. Cohen further
stressed that mobilization, involving parents, physicians, funding
agencies, and researchers, is a critical issue and necessary to overcome
research and therapeutic nihilism.

Today, DSRTF is pressing to build increased awareness among parents and
biomedical researchers that recent studies suggest there may be various
ways to intervene. In fact, over the past year, three independent research
approaches, using mice with an extra copy of a similar chromosome to
chromosome 21 in humans, demonstrated in these “DS model” mice the ability
to significantly rescue specific brain structural and functional
abnormalities which are closely related to cognition in Down syndrome. The
timing of these findings suggests that a major impact on Down syndrome is
achievable within the next ten years. It was clear to the DSRTF SAB
members who met in San Francisco earlier this month that now is the time
to infuse resources and funding to build and accelerate cognition research.

The SAB will play an important role in DSRTF’s grant-making efforts by
making recommendations concerning the research areas that could be enhanced
through DSRTF funding. They already have acknowledged the important need
for bold new initiatives, including the development of a comprehensive Down
syndrome patient registry and tissue/DNA bank for detailed
genotype-phenotype analyses and correlations. “Such a resource, if made
available to the entire research community, would make it possible to
expedite the process of identifying and moving potential therapeutic
targets all the way through drug development and associated clinical
studies,” said Dr. Michael Harpold, SAB Chair and member of the DSRTF Board
of Directors. Dr. Harpold further stated, “Based on our SAB meeting
discussions it is clear that there are many additional promising research
areas with the potential for significant impact in Down syndrome and that
more support and funding will be key to realizing this potential. DSRTF is
making a real difference and it will be critical to sustain and increase
its research support initiatives.”

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STANFORD, Calif. — A once-a-day, short-term treatment with a drug compound substantially improved learning and memory in mice with Down syndrome symptoms, say researchers at the Stanford University School of Medicine and Lucile Packard Children’s Hospital. What’s more, the gains lasted for months after the treatment was discontinued. The researchers are now considering a clinical trial to test whether the compound has a similar effect in humans with Down syndrome.

"This treatment has remarkable potential," said Craig Garner, PhD, professor of psychiatry and behavioral sciences and co-director of Stanford’s Down Syndrome Research Center. "So many other drugs have been tried that had no effect all. Our findings clearly open a new avenue for considering how cognitive dysfunction in individuals with Down syndrome might be treated." The center was created by researchers at Stanford and Packard Children’s in 2003 to rapidly translate research discoveries into useful treatments for people with Down syndrome.

The research, which will be published Feb. 25 in the advance online edition of Nature Neuroscience, was conducted by Fabian Fernandez, a graduate student in Garner’s laboratory. Fernandez found that affected mice were significantly better able to identify novel objects and navigate a maze–tasks that simulate difficulties faced by children and adults with Down syndrome–after being fed 17 daily doses of milk containing a compound called pentylenetetrazole, or PTZ. Treated mice performed as well as their wild-type counterparts for up to two months after drug treatment was discontinued.

"Somehow the drug treatment creates a new capacity for learning," said Garner, who cautions that this new ability may decay over longer periods of time as older, drug-experienced neurons are replaced by younger cells.

The researchers believe that the key to the improvement lies in the fact that PTZ blocks the action of an inhibitory neurotransmitter called GABA. Normal brains maintain a precise ratio between neuronal excitation and inhibition that allows efficient learning. In contrast, it’s thought that Down syndrome patients have too much GABA-related inhibition, making it difficult to process information.

"In general, learning involves neuronal excitation in certain parts of the brain," said Garner. "For example, caffeine, which is a stimulant, can make us more attentive and aware, and enhance learning. Conversely, alcohol or sedatives impair our ability to learn."

But as any overenthusiastic college student can attest, too much caffeine can backfire. The same is true with high doses of PTZ, which can cause seizures. In fact, after some brief, inconclusive studies on cognition enhancement in elderly or mentally impaired people in the 1950s, PTZ has been primarily used for the study of epilepsy in animals. In 1982 the FDA withdrew approval for the use of PTZ in humans because no clear clinical benefit had been established. That is, until now.

"My idea was that it might be possible to harness this excitation effect, which at higher doses can be pathological, to benefit people with Down syndrome," said Fernandez.

More than 300,000 people nationwide have Down syndrome, which is caused by an extra copy of chromosome 21. It is the leading cause of mental retardation in the country, and it is also associated with childhood heart disease, leukemia and early onset Alzheimer’s disease. The researchers used a mouse model of Down syndrome for their study in which about 150 genes are triplicated. The mice exhibit many of the cognitive problems that afflict human Down syndrome patients.

Fernandez gave low daily doses of PTZ and investigated the animals’ responses to unfamiliar objects and a T-shaped maze. In the first example, he allowed the animals to explore two similarly sized, yet obviously different, objects for 15 minutes. Twenty-four hours later he exposed the same animals to one of the previously seen objects and a third, never-before-seen object. Although wild-type mice spent more time investigating the new object, untreated Down syndrome mice showed no preference for either object.

In the maze test, mice were habituated to the long arm of a T-shaped maze and then allowed to explore. Wild-type mice tended to investigate first one, then the other arm of the maze, while untreated Down syndrome mice were less methodical. However, the Down syndrome mice performed more like their wild-type counterparts on both tests after 17 days of PTZ treatment.

The researchers discovered two interesting things when testing the mice: daily doses were required for several days before any effect was detected, and, once established, the effect lasted for up to two months after the drug was withdrawn. In fact, the drug’s activity profile mirrored that of some well-known psychiatric medications.

"This suggests that it’s not just the removal of the excess inhibition that allows learning to occur, but that we’re instead strengthening synapses through some type of long-lasting neuronal adaptation," said Garner.

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Byline: Gail Todd Did you see the year-end report on air travel for 2006? It was released by the Department of Transportation a couple of weeks ago. And it was record-breaking, but not in a good way. On-time arrivals were the lowest since before the terrorist attacks of Sept. 11, 2001.

Lost baggage was the highest since the 1990s. For anybody who traveled last year, these statistics are no surprise. But what is a surprise is that passenger complaints for the year actually dropped. "I think passengers have given up," said my old flying partner. "They’re …

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Event at Lincoln Triangle Barnes & Noble in Manhattan Will Feature Singer/Songwriter Rachel Fuller, Sesame Street’s Bob McGrath, and Songwriter Melissa Riggio, Spotlighted in National Geographic Kids article, "I Have Down Syndrome"

500 Barnes & Noble Stores Nationwide To Hold Special Storytime Events on Down Syndrome in February

NEW YORK — Barnes & Noble, Inc. (NYSE: BKS), the world’s largest bookseller, announced today that the Lincoln Triangle Barnes & Noble store in New York City (1972 Broadway at 66th Street) will host a special event to raise awareness about Down syndrome at 11 A.M. on Monday, February 19th. The event will feature singer/songwriter Rachel Fuller and songwriter Melissa Riggio, spotlighted in the National Geographic Kids magazine article, "I Have Down Syndrome." Bob McGrath, one of the original hosts of Sesame Street, will emcee the program.

The Lincoln Triangle event will highlight the achievements of Melissa Riggio, the 18-year-old daughter of Steve Riggio, chief executive officer of Barnes & Noble, Inc. As she says in the article "I Have Down Syndrome" in National Geographic Kids, "It’s true that I don’t learn some things as fast as other people. But that won’t stop me from trying. I just know that if I work really hard and be myself, I can do almost anything."

And Melissa has. British singer and songwriter Rachel Fuller (Cigarettes & Housework, Shine) was so moved by Melissa’s poetry and story that she co-wrote and recorded two songs with her: The Ring and Love Is A Potion (available for free download at www.Riggio.net), produced by Pete Townshend of The Who. Both Melissa and Rachel will participate in the program, and Rachel will perform live during the event.

500 Barnes & Noble Stores Nationwide To Hold Special Storytime Events

In addition, approximately 500 Barnes & Noble stores across the country will hold special Storytime events in February for children six to eight years old. The events will raise awareness of Down syndrome and feature the achievements of Melissa Riggo. Her hope is that these events will demonstrate that the lives of people with Down syndrome are "a lot like yours." As she says in the article, "I read books and watch TV. I listen to music with my friends. I’m on the swim team and in the chorus at school. I think about the future, like who I’ll marry. And I get along with my sisters."

To find the Barnes & Noble store nearest you that will host this special Storytime, click on "Find Your Local B&N Store" on Barnes & Noble.com (www.bn.com).

Rachel Fuller

Rachel Fuller’s first CD, Cigarettes & Housework (Universal Records), released in 2004, is a contemporary album filled with original heartfelt songs laden with hooks and tender ballads, and includes musical contributions from Pete Townshend, Pino Palladino and Mark Brzezicki. Her song Wonderland is included in the soundtrack of the Richard Gere/Jennifer Lopez movie, Shall We Dance, released in 2004. Rachel’s second CD, Shine (eelpie), was released in 2006 and features five new tracks, including Just Breathe, which was voted "indie" song of the year on the Independent Artists Web site. A classically trained pianist, Rachel’s orchestral works have also been recorded by the London Chamber Orchestra. Rachel Fuller has been a pioneer in Web cast entertainment with her variety series, In the Attic (intheattic.tv). More information on Rachel can be found at www.myspace.com/rachelfuller30.

Bob McGrath

Bob McGrath just celebrated his 38th year on "Sesame Street." He was recently inducted into the 2002 Silver Circle of the National Academy of Television Arts and Sciences. He is the recipient of the American Eagle Award by the National Music Council and the Fame Award by the National Association of Music Educators for furthering the cause of music education. In addition to his role as music teacher on Sesame Street, Bob is a successful author, recording artist and concert performer.

About Barnes & Noble, Inc.

Barnes & Noble, Inc. (NYSE: BKS), the world’s largest bookseller and a Fortune 500 company, operates 801 bookstores in 50 states. For the fifth year in a row, the company is the nation’s top retail brand for quality, according to the EquiTrend[R] Brand Study by Harris Interactive[R]. Barnes & Noble conducts its online business through Barnes & Noble.com (www.bn.com), one of the Web’s largest e-commerce sites and the number one online bookseller for quality among e-commerce companies, according to the latest EquiTrend survey.

General information on Barnes & Noble, Inc. can be obtained via the Internet by visiting the company’s corporate Web site: http://www.barnesandnobleinc.com.

About The National Down Syndrome Society (NDSS)

The National Down Syndrome Society is a nonprofit organization with more than 200 affiliates nationwide, representing the more than 350,000 Americans who have this genetic condition. NDSS is committed to supporting and enhancing the quality of life, and realizing the potential of all people with Down syndrome. We demonstrate this commitment through our education, research and advocacy initiatives that benefit people with Down syndrome and their families. To learn more about NDSS, visit http://www.ndss.org.

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Scientists working on a Down’s syndrome test that poses no risk to unborn babies have published promising results. At present, pregnant women at high risk of carrying a baby with Down’s syndrome may be offered diagnostic tests, which involve removing tissue or fluid from the womb. But the procedures carry risks of miscarriage.

A study by researchers in Maryland, USA, published in The Lancet, has focused on a non-invasive test, where blood is taken from the mother and analysed for genetic abnormalities in the child. Babies with Down’s syndrome have an extra copy of chromosome 21 in their DNA, trisomy 21. Of the 60 samples tested, the technique correctly identified the number of chromosomes in 58 of them.

Copyright 2007 Independent Newspapers UK Limited
Provided by ProQuest Information and Learning Company. All rights Reserved.

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Van Trotsenburg ASP, Heymans HSA, Tijssen JGP, et al. Comorbidity, hospitalization and medication use and their influence on mental and motor development of young children with Down syndrome. Pediatrics. 2006; 118: 1633-1639.

This study was designed to study the impact of medical conditions on hospitalization and medication use rates, and to investigate their influence on neurodevelopment during the first 2 years of life. Subjects were 196 children with Down Syndrome who were treated with either thyroxine or placebo during their first 2 years of life. This previous study …

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