New initiative aims to eradicate major effects associated with Down Syndrome
The Anna and John J. Sie Foundation, in conjunction with the University of Colorado, have awarded $1 million to 13 grant recipients to stimulate new scientific research on Down syndrome with the 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.
The Initiative began 10 months ago with a summit meeting at CU-Boulder 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 million.
“ 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 more than two dozen experienced research scientists into the field of Down syndrome research,” said John Sladek, PhD, vice chancellor for research at the University of Colorado Denver (UCD).
“ 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 United States. 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.”
The grant selection committee was chaired by Leslie Leinwand, PhD, professor and chair of the Department of Molecular Cellular and Developmental Biology at CU-Boulder and a current Howard Hughes Professor. Committee members consisted of highly respected senior members of CU’s faculty, including Thomas Blumenthal, PhD, professor and chair of the Department of Biochemistry and Molecular Genetics at UCD; David Braddock, PhD, a UCD professor of psychiatry, executive director of the Coleman Institute, and associate vice president of the CU system; Larry Gold, PhD, professor of molecular cellular and developmental biology at CU-Boulder, and president and CEO of Somalogics Inc., and Sladek, PhD, professor of psychiatry and neuroscience and vice chancellor for research at UCD.
Grants chosen represent different approaches to tackling Down syndrome, including stem cell research, auto-immune disease investigation, genotyping, bio engineering and clinical drug research.
UCD and UCB grant recipients are:
• Kristin Artinger, assistant professor, craniofacial biology, UCD – The Use of Neural Crest Stem Cells as a Model for Stem Cell replacement Therapy ($50,000)
• Kimberly Bjugstad, instructor, psychiatry, UCD – Neural Stem Cells as Potential for Down Syndrome Using Young and Aged Trisomic Ts65Dn Mice ($100,000)
• Mark Dell’Acqua, assistant professor, pharmacology, UCD – Molecular Mechanisms Underlying Altered Excitatory Postsynaptic Structure and Function in Down Syndrome ($50,000)
• Kenneth Maclean, assistant professor, pediatrics, UCD – Ts65Dn mice as a preclinical model for investigating cognitive enhancement by the acetylcholinesterase ($50,000)
• William Mobley, professor, neurology, Stanford University AND Irina Grichtchenko, assistant professor, physiology and biophysics, UCD – Characterization of the pH regulatory systems in Down syndrome: Implication for synaptic and neuronal abnormalities in the dentate gyrus of Ts65Dn mice ($100,000)
• Karl Pfenninger, professor, pediatrics, UCD – Role of Down Syndrome Cell Adhesion Molecule in Cognitive Disability ($50,000)
• Diego Restrepo, professor, cell and developmental biology, UCD – A Systems Neurobiology Approach to Improved Cognitive Ability in Ts65Dn Mice ($100,000)
• James Sikela, professor, pharmacology, UCD – Gene Copy Number Variation in Down Syndrome ($100,000)
• Richard Spritz, professor/director, Human Medical Genetics Program, UCD – A Chromosome 21 Gene Responsible for Increased Susceptibility to Autoimmune Diseases in Down Syndrome ($100,000)
• William Strauss, assistant professor, Molecular, Cellular and Developmental Biology Department, CU-Boulder – Enabling technology for intervention to the genetic disease, Trisomy 21, Down syndrome ($50,000)
• Janas Tadeusz, research associate, Molecular, Cellular and Developmental Biology Department, CU-Boulder – A search for membrane RNAs that can inhibit formation of toxic amlyoid aggregates ($50,000)
“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 more than 350,000 Americans and millions more worldwide,” said Dr. Richard Spritz, director of human medical genetics at UCD and a grant recipient. “I believe that my background and expertise can make a significant contribution to the effort of eradicating the abnormalities associated with Down syndrome.”
Results of each grant are expected to be published by the end of 2008.
Ten departments in the CU School of Medicine and the CU School of Dentistry are involved at UCD, including cell and developmental biology, craniofacial biology, human medical genetics, neurology, pharmacology, physiology and biophysics, pediatrics, psychiatry, pathology, and the Barbara Davis Center for Childhood Diabetes. CU-Boulder participants include faculty from the Department of Molecular, Cellular and Developmental Biology and the Department of Electrical and Computer Engineering.
Except in rare cases, Down syndrome results from a spontaneous event that results in having an extra Chromosome 21 (three instead of two) and is not inherited. About one in every 733 babies in the United States is born with Down syndrome, making it the most frequently occurring chromosomal condition. More than 5,000 Coloradans and 350,000 people in the United States have Down syndrome. The Anna and John J. Sie Foundation’s goal is to galvanize scientific research with the ultimate goal of eradicating the ill effects of the third chromosome 21 and to make Colorado the best place for people with Down syndrome to live.
For more information, call Michelle Sie Whitten at the Anna and John J. Sie Foundation at 303-468-6666 or Dr. John Sladek at the Office of the Vice Chancellor for Research, University of Colorado Denver at 303-724-3050.
