Linda Crnic Institute for Down Syndrome Awards $1.3 Million in Grand Challenge Grants to 14 Researchers

Innovative science investigates immune disorders, sleep apnea, certain leukemias, and Alzheimer’s disease in people with Down syndrome

View all the grant recipients and descriptions of their research

DENVER (March 20, 2013) – The Linda Crnic Institute for Down Syndrome awarded $1.3 million to 14 inaugural recipients of the Crnic Grand Challenge Grants today.  The grant recipients were chosen based on the strength of the science and the likelihood the science would lead to improving outcomes for people with Down syndrome.

The Crnic Grand Challenge Grants program was established earlier this year by Tom Blumenthal, Ph.D., executive director of the Crnic Institute. The grants are available to scientists from the University of Colorado system and were awarded to researchers from various disciplines at the University of Colorado at Boulder, and the University of Colorado Anschutz Medical Campus.

Thirty-six grant 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 Mark Winey of the CU-Boulder Department of Molecular, Cellular and Developmental Biology.

“The decision on which grants to fund was incredibly difficult because of the diverse, meaningful research proposed by the scientists,” Blumenthal said. “We had initially planned to fund 10 grants totaling $1 million for the first year, but we funded $1.3 million for 14 because of the truly impactful research that was proposed and is now being funded.”

Among the researchers receiving grants:

  • Dr. Richard Spritz, professor of human medical genetics at the medical school, has discovered a gene on chromosome 21 that contributes to the occurrence of autoimmune diseases in non-Down syndrome patients. The lab will determine whether variants of that gene cause the high incidence of autoimmune diseases such as thyroid disease, celiac disease and type 1 diabetes in people with Down syndrome.
  • James DeGregori, Ph.D., professor of biochemistry and molecular genetics at the medical school, will use mouse models to ask whether the increase in leukemias associated with Down syndrome is actually caused by stem cell defects. The study could indicate ways to improve blood cell function and prevent leukemias in people with Down syndrome.
  • Kevin Jones, Ph.D., associate professor of molecular, cellular and developmental biology at CU-Boulder, will test whether increasing the abundance of one specific growth factor can prevent cognitive deficits in a mouse model. His lab will screen for drugs that increase the abundance of this growth factor with the ultimate goal of developing therapeutic drugs for the treatment of Down syndrome.
  • Dr. Karl Pfenninger, professor of pediatrics at the medical school, is interested in the causes of intellectual disability associated with Down syndrome. His lab studies APP, a protein that is overproduced in the brains of people with Down syndrome and is known to be  the major pathogenic protein in Alzheimer’s disease. Their ultimate goal is to target APP to ameliorate Down syndrome-associated intellectual disability.

Other grants will fund basic research such as mapping the genome, as well as investigating the co-occurrence of sleep apnea, autism and Alzheimer’s disease in people with Down syndrome. The other investigators receiving a Crnic Grand Challenge Grant are: From CU-Boulder, Joaquin Espinosa, Ph.D., Rui Yi, Ph.D., Christopher Link, Ph.D., Robin Dowell, Ph.D., and Ding Xue, Ph.D.; and from the Anschutz Medical Campus, Mathew Kennedy, Ph.D., Tamim H. Shaikh, Ph.D., Dr. Vivek Balasubramaniam, Michael Yeager, Ph.D., and Dr. Fran Hickey, Medical Director of the Anna and John J. Sie Center for Down Syndrome at Children’s Hospital Colorado.

The Crnic Grand Challenge Grants will be provided annually with an anticipated $1 million in grants funded each year. 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.

See the full list of the grants.

The Crnic Grand Challenge Grants are intended to be an annual infusion of funding into a genetic condition that is the least-funded by the National Institutes of Health despite the fact that it affects one in every 691 births in the U.S. Grant recipients become part of a Down Syndrome Supergroup that meets monthly to discuss science related to Down syndrome, and the grant process will begin each year with a symposium to educate CU researchers about Down syndrome.

The announcement of the grants coincides with Down Syndrome Awareness Month in Colorado and World Down Syndrome Day.

 

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. Formally established in 2009, the Foundation’s primary focus is to support the Linda Crnic Institute for Down Syndrome, the first academic home in the U.S. committed to research and medical care for people with the condition. Fundraising and government advocacy that corrects the alarming disparity of national funding for people with Down syndrome is a major short-term goal. The Foundation organizes the Be Beautiful Be Yourself Fashion Show — the single-largest annual fundraiser benefiting people with Down syndrome.  Programmatically, the Foundation organizes and funds many programs and conferences, including the Dare to Play Soccer Camps, the Denver Broncos Cheerleaders Dare to Cheer Camps, the Global Down Syndrome Educational Series, and the Global Down Syndrome Multi-Language Resource Project. The Foundation is an inclusive organization without political or religious affiliation or intention.

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. Established in 2008, the Crnic Institute is a partnership between the University of Colorado School of Medicine, the University of Colorado at Boulder, and Children’s Hospital Colorado. Headquartered on the Anschutz Medical Campus in Aurora, the Crnic Institute includes the Anna and John J. Sie Center for Down Syndrome at Children’s Hospital Colorado. It partners both locally and globally to provide life-changing research and medical care for individuals with Down syndrome. The Crnic Institute is made possible by the generous support of the Anna and John J. Sie Foundation, and relies on the Global Down Syndrome Foundation for fundraising, education, awareness and government advocacy.  It is a research and medical-based organization without political or religious affiliation or intention.

 

###