2005 DSRTF Holiday Newsletter
DSRTF wishes you and your family peace, love and joy this holiday season and throughout the coming year.
Although in existence for only two years, DSRTF is the largest source of private funds for Down syndrome cognition research. We attribute this success to our focused mission, which is to understand and treat the deficiencies in learning, memory and speech experienced by those with DS.
DSRTF grants have moved the field forward by enabling scientists to complete experiments with mouse models of Down syndrome that have proven:
• the structure and formation of synapses in a Down syndrome brain are abnormal;
• synaptic function and strength are disrupted;
• cholinergic neurons degenerate, and this degeneration is due to the failure to send neurotrophic signals;
• removal of an extra copy of a critical gene on chromosome 21 improved cognitive functioning significantly;
• long-term protentiation, a cellular basis for learning and memory, is severely impaired, and this change is caused by an enhanced efficiency in inhibitory neurotransmission in the brain.
Research currently taking place with DSRTF grant money includes studies to determine:
• why changes in inhibitory neurotransmission reduce learning and memory in people with Down syndrome, and what compounds can be used to “turn down” this inhibition in the brain;
• the causes of reduced nerve growth factor (NGF) in Down syndrome and possible ways to devise treatments;
• why the overproduction of certain proteins lead to differences in the synaptic function of the brain, and how certain drugs could prevent the over-production of these proteins.
While the exciting progress that has been made in the field in a very short time is encouraging, it also underscores the neglect that the field suffered until just recently, and indicates the strong potential for identifying treatments in the near future.
DSRTF itself has made significant strides since it’s founding two years ago. DSRTF’s accomplishments include:
• raising more than $1.5 million of private funds for DS cognition research;
• influencing an additional $4 million from public and private sources for DS studies or DS cognition research resources;
• development of a grassroots fundraising network throughout the country which includes over 1000 donors to-date;
• the successful Adopt-a-Mouse program which raises awareness of the need for funds and for specific resources, like mouse models, to enable this promising research to take place;
• hosting a number of educational and fundraising activities across the country including events in Boston, Washington D.C, Charlotte, Dallas, Phoenix and San Francisco;
• sponsoring Congressional testimony about the importance and promise of DS cognition research and playing a lead role in an NIH workshop to determine funding priorities for DS research.
DSRTF is proud of our role in ensuring that this promising work will continue to progress. Join us in being part of the breakthrough. DONATE TODAY.
Mouse Model Systems for Studying Down Syndrome
Just recently, researchers in London made an enormous breakthrough in the development of a new mouse model for Down syndrome research which contains almost the entire human chromosome 21. This is a huge feat in genetic engineering and a significant improvement over the existing mouse models because these new mice have more human genes, as well as human DNA that regulates the genes, to use in their testing.
Researchers agree that this new mouse not only solves problems, but raises the next round of questions. More importantly the mouse model provides a way to solve them. Roger Reeves a Johns Hopkins University geneticist believes: "This is going to have a huge impact on Down syndrome research."
Scientists believe that characteristics of DS are triggered by an over-_expression or imbalance of certain genes caused by the triplicate copy of chromosome 21. Down syndrome researchers have been using genetically altered mice for the past 30 years; it is primarily through the use of mouse models that they have been able to learn more about Trisomy 21 and to find ways to ameliorate the effects. With this new mouse model breakthrough, the hope is that they can "tease" out precise genes to isolate those that are responsible for the cognitive effects of Down syndrome. Among other conditions, they are also hoping to determine why individuals with DS are more susceptible to Leukemia and auto-immune disorders.
The mice are extremely important to researchers all over the world who are exploring the myriad effects of this complex syndrome. The big hitch is that all genetically engineered mice are very expensive and time-consuming to create. We need to raise money to contribute to the creation of more mouse models to further DS research. Each day, there are breakthroughs in genetic engineering and gene therapy. It is the scientists’ hope, along with ours, that the identification of the specific genes responsible for the effects of Down syndrome will lead to therapies and treatments that will improve cognition in those with DS.
DSRTF has initiated a fundraising campaign called Adopt-a-Mouse. For a $21 donation ($21 for Trisomy 21), you can receive an adorable stuffed mouse, which represents our research efforts on Down syndrome.
Why a mouse? We chose a mouse as our symbol because most of the current genetic and bio-medical research on cognition involves the use of mouse models. The research mice are expensive and difficult to breed, so the Adopt-a-Mouse program highlights the need for more funding to produce more and better mice models for our research. To read more about the importance of mouse models see the article to the right.
Learn more about the Adopt-A-Mouse Program >>
Thanks to our 2005 Corporate Sponsors:
Enterprise Rental Car
Cooley Godward, LLP
Morrison & Foerster, LLP