DENVER, May 9 /PRNewswire/ -- The Anna and John J. Sie Foundation, in conjunction with the University of Colorado, have just awarded $1,000,000 to 13 grant recipients to stimulate new scientific research on Down syndrome with the very bold aim of eliminating the major effects of Trisomy-21. The existence of three copies (typically two) of the 21st chromosome causes 90-95 percent of all cases of Down syndrome. The grants are part of the Down Syndrome Break-Through Research Initiative, created by the Anna and John J. Sie Foundation through CU in 2005.
As a result of the Initiative’s January 2006 Down Syndrome “Call to Action” Symposium, 34 grant proposals including 21 from the CU community and 13 from scientists outside of CU were submitted.
“We couldn’t be more pleased with the number and quality of proposals submitted for our grants,” Michelle Sie Whitten, Executive Director of the Anna and John J. Sie Foundation said. “Our mission is to get a large number of preeminent scientists interested in Down syndrome research and to inspire new approaches by providing seed grants to science that focus on eradicating the ill effects of the third chromosome 21 and therefore can lead to life enhancement for people with Down syndrome as soon as possible. This is an amazing first step and it should be very exciting news for the 350,000 plus people with Down syndrome and their families in the US, and the countless more abroad.”
The Initiative began 10 months ago with a summit meeting at the University of Colorado at Boulder (UCB) that brought together some of the best minds in science to examine the current state of Down syndrome research and explore new and innovative research approaches.
Nobel Laureate Tom Cech served as the moderator of the summit and conclusions drawn from the event served as criteria for bestowing what was expected to be six individual grants totaling $600,000. The proposals were so compelling, however, that the Anna and John J. Sie Foundation and CU contributed additional funds to underwrite 13 grants totaling $1,000,000.
Dr. John Sladek, Vice Chancellor for Research, University of Colorado Health Sciences Center (UCHSC) is effusive about the Initiative, “This novel Initiative sponsored by a partnership between the Anna and John J. Sie Foundation and the University of Colorado is the first of its kind, anywhere in the world and already has succeeded in attracting over two dozen experienced research scientists into the field of Down syndrome research. They all are experts in other, related fields of importance to our overall goal of eradicating the disability that occurs in individuals who are born with this genetic disorder. We are extremely pleased with the overwhelming response to our invitation to propose new approaches for Down syndrome research by so many outstanding laboratories in the CU system, throughout the State of Colorado, and from coast to coast in the U.S. In fact there were so many meritorious proposals that we decided to contribute another $300,000 to help match the wonderful gift from the Sie Foundation which will fund another seven pilot projects.”
Grants chosen represent different approaches to tackling Down syndrome including stem cell research, auto-immune disease investigation, genotyping, bio engineering and clinical drug research. Grant Recipients (by Primary Investigator in alphabetical order) are:
1. Kristin Artinger, Assistant Professor, Craniofacial Biology, UCHSC -- The Use of Neural Crest Stem Cells as a Model for Stem Cell replacement Therapy ($50K) 2. Kimberly Bjugstad, Instructor, Psychiatry, UCHSC -- Neural Stem Cells as Potential for Down Syndrome Using Young and Aged Trisomic Ts65Dn Mice ($100K) 3. Mark Dell’Acqua, Assistant Professor, Pharmacology, UCHSC -- Molecular Mechanisms Underlying Altered Excitatory Postsynaptic Structure and Function in Down Syndrome ($50K) 4. Ann-Charlotte Granholm, Professor, Neurosciences, Medical University of South Carolina -- Neuroprotective effects of Memantine in Down syndrome and Alzheimer’s disease ($100K) 5. Kenneth Maclean, Assistant Professor, Pediatrics UCHSC -- Ts65Dn mice as a preclinical model for investigating cognitive enhancement by the acetylcholinesterase ($50K) 6. William Mobley, Professor, Neurology, Stanford University AND Irina Grichtchenko, Assistant Professor, Physiology and Biophysics, UCHSC -- Characterization of the pH regulatory systems in Down syndrome: Implication for synaptic and neuronal abnormalities in the dentate gyrus of Ts65Dn mice ($100K) 7. Karl Pfenninger, Professor, Pediatrics, UCHSC -- Role of Down Syndrome Cell Adhesion Molecule in Cognitive Disability ($50K) 8. Roger Reeves, Professor, Physiology, Johns Hopkins University -- Genetic modifiers of cognitive function of Down syndrome ($100K) 9. Diego Restrepo, Professor, Cell & Developmental Biology, UCHSC -- A Systems Neurobiology Approach to Improved Cognitive Ability in Ts65Dn Mice ($100K) 10. James Sikela, Professor, Pharmacology, UCHSC -- Gene Copy Number Variation in Down Syndrome ($100K) 11. Richard Spritz, Professor/Director, Human Medical Genetics Program, UCHSC -- A Chromosome 21 Gene Responsible for Increased Susceptibility to Autoimmune Diseases in Down Syndrome($100K) 12. William Strauss, Assistant Professor, Molecular, Cellular and Developmental Biology Department, UCB -- Enabling technology for intervention to the genetic disease, Trisomy 21, Down syndrome ($50K) 13. Janas Tadeusz, Research Associate, Molecular, Cellular and Developmental Biology Department, UCB -- A search for membrane RNAs that can inhibit formation of toxic amlyoid aggregates ($50K)
Dr. Richard Spritz, Director of Human Medical Genetics, University of Colorado Health Sciences Center and a recipient of one of the Grants is new to the Down syndrome field and excited about the prospects, “The Down syndrome “Call to Action” symposium held at our University in January prompted me to think of new approaches to understanding the genetics of this disorder that affects over 350,000 Americans and millions more worldwide. I believe that my background and expertise can make a significant contribution to the effort of eradicating the abnormalities associated with Down syndrome. I am extremely pleased to have been selected for one of the awards and look forward to the success of all of the new programs funded by this new initiative through the University of Colorado. It truly is shaping up to be a wonderful team effort.”
Dr. Roger Reeves, Professor of Physiology at Johns Hopkins and one of the leading scientists in the field of Down syndrome is equally optimistic, “These grants are perhaps the most important stimulus to happen in the field of Down syndrome research in years. The Initiative comes at the right time with scientific advancement, Down syndrome parent advocacy for more and better research, and a better understanding of mainstream disease associated with Down syndrome converging to make the environment ripe for real break-through research. My team of investigators could not be more pleased to participate.”
Results of each grant are expected to be published by the end of 2008. One measurement of success for the grants will be the number of recipients that will continue and expand their Down syndrome-related work with subsequent funding from NIH.
The Anna and John J. Sie Foundation
CONTACT: Danielle Dascalos, +1-303-427-0921, ddascalos@comcast.net, forThe Anna and John J. Sie Foundation
