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Linda Crnic Institute for Down Syndrome Awards $1.26 Million in Grand Challenge Grants Supporting 13 Researchers
[March 21, 2014]

Linda Crnic Institute for Down Syndrome Awards $1.26 Million in Grand Challenge Grants Supporting 13 Researchers

DENVER --(Business Wire)--

To commemorate World Down Syndrome Day, the Linda Crnic Institute for Down Syndrome announced $1.26 million in Crnic Institute Grand Challenge Grants to 13 researchers, raising the number of labs at the University of Colorado working on Down syndrome research to 24, and the total labs supported by Crnic to 29. In the past two years, more than $3.7 million in grants have been awarded to Crnic-related grants programs supporting over 80 scientists focused on Down syndrome research.

Crnic Grand Challenge Grant recipients are chosen based on the strength of their proposed science and the likelihood such science will lead to improving outcomes for people with Down syndrome. All grant recipients commit to becoming part of a Down Syndrome Supergroup that meets monthly to discuss science related to Down syndrome. Eleven meetings have been held to date.

"The Supergroup increases the brainpower applied to each study project," said Tom Blumenthal, Ph.D., executive director of the Crnic Institute. "It enables each lab to prepare a talk on the research they do, and then enables the rest of the scientists working on Down syndrome to critique the project and to come up with new ideas about ways to answer the key questions the research is designed to focus on."

Thirty-three researchers from the University of Colorado at Boulder and the University of Colorado School of Medicine on the Anschutz Medical Campus applied for the 2014 Crnic Grand Challenge Grants. The proposals were reviewed by an elite group of scientists, including Blumenthal, Katheleen Gardiner and Huntington Potter of the Linda Crnic Institute; Mark Johnston, chair of the CU School of Medicine Department of Biochemistry and Molecular Genetics; Lee Niswander of the CU School of Medicine Department of Pediatrics; and Leslie Leinwand and Min Han of the CU-Boulder Department of Molecular, Cellular and Developmental Biology.

The researchers receiving grants are:

  • Zhe Chen, Ph.D., CU-Boulder: Study how trisomy 21 affects axon guidance in the brain
  • James DeGregori, Ph., CU School of Medicine: Study increase in leukemia incidence and other problems with blood cell production, including reduced immunity
  • Mark Dell' (News - Alert)Acqua, Ph.D., CU School of Medicine: Study the role of calcium signaling in inhibition of synapse formation by beta amyloid plaque in Down syndrome (A-beta is the main component in plaques of Alzheimer's disease patients)
  • Robin Dowell, Ph.D., CU-Boulder: Understand how an extra copy of chromosome 21 affects the behavior of key proteins involved in regulating expression
  • Aaron Johnson, Ph.D., CU School of Medicine: Reconstitute chromosome 21 in the test tube to understand how it can be turned off by an RNA molecule
  • Harald Junge, Ph.D., CU-Boulder: Determine the effects of trisomy 21 on optic nerve development and function
  • Christopher Link, Ph.D., CU-Boulder: Determine which genes have altered expression due to trisomy 21
  • Steven Maier, Ph.D., CU-Boulder: Understand the contribution of inflammation in the brain to cognitive deficits of Down syndrome
  • Bradley Olwin, Ph.D., CU-Boulder: Test the idea that muscle weakness in Down syndrome is due to failure of muscle stem cells to function properly
  • Anne-Laure Perraud, Ph.D., CU School of Medicine: Determine the role of a chromosome 21 protein that forms an ion channel in innate immune dysfunction in Down syndrome
  • Karl Pfenninger, CU School of Medicine: Study causes of intellectual disability associated with Down syndrome, specifically the APP protein
  • Tamim H. Shaikh, Ph.D., CU School of Medicine: Research genetic modifiers of autism spectrum disorders in patients with Down syndrome
  • Rui Yi, Ph.D., CU-Boulder: Determine the effect of gene dosage imbalance on activity in trisomic embryonic stem cells

A full list of the 2013 and 2014 grant recipients and descriptions of the research is available at

The grant program is underwritten by the Anna and John J. Sie Foundation, the Global Down Syndrome Foundation, the Chancellors of the Boulder and Denver campuses and the Dean of the School of Medicine.

The Crnic Grand Challenge Grants are an annual infusion of funding into a genetic condition that is one of the least-funded by the National Institutes of Health despite the fact that it affects one in every 691 births in the U.S. The grant process begins each year with a symposium to educate CU researchers about Down syndrome.

The announcement of the grants coincides with World Down Syndrome Day (March 21), which represents 3 copies of the 21st chromosome.

About the Global Down Syndrome Foundation

The Global Down Syndrome Foundation is a public nonprofit 501(c)(3) dedicated to significantly improving the lives of people with Down syndrome through research, medical care, education and advocacy. Please visit for more information.

About the Linda Crnic Institute for Down Syndrome

The Linda Crnic Institute for Down Syndrome is the first medical and research institute with the mission to provide the best clinical care to people with Down syndrome, and to eradicate the medical and cognitive ill effects associated with the condition. Please visit the Crnic Institute website for more information.

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