Crnic Institute Grants Fund Novel Research Focused on the Immune System in Down Syndrome

Results May Explain Increased Risk of Leukemia, Autoimmune Disorders, and Cognitive Impairment

DENVER, CO (March 18, 2016) – Increasing evidence suggests that malfunction of the immune system in people with Down syndrome may be linked to their higher risk for leukemia, autoimmune disorders, and cognitive impairment. Today, the Crnic Institute and the Global Down Syndrome Foundation provided awards to four investigators focused on this striking correlation.

Each investigator is taking a markedly different approach towards the goal of further understanding inflammation in people with Down syndrome – from using mouse models to test drugs affecting inflammation in the brain, to defining the repertoire of immune cells in the blood of people with Down syndrome.

  • Brianne Bettcher, Ph.D., Assistant Professor of Neurosurgery at the University of Colorado School of Medicine on the Anschutz Medical Campus will investigate the correlation between biomarkers of inflammation, brain structure, and neuropsychological functioning in adults with Down syndrome with an emphasis on those with early stages of Alzheimer’s disease.
  • Steven Maier, Ph.D., Distinguished Professor of Psychology and Neurosciences at the University of Colorado Boulder will test the impact of anti-inflammatory therapies on learning and behavior using a mouse model of Down syndrome.
  • Christopher Porter, M.D., Associate Professor of Hematology, Oncology and Bone Marrow Transplant in the Department of Pediatrics at the University of Colorado School of Medicine on the Anschutz Medical Campus will employ advanced technology to define, with unprecedented detail, the impact of trisomy 21 on the amount and function of the many types of immune cells in the human body.
  • Kelly Sullivan, Ph.D., Instructor in the Department of Pharmacology, University of Colorado School of Medicine on the Anschutz Medical Campus will focus on a specific group of proteins, known as Interferons, which play potent and widespread roles in the immune system. This research will define the impact of modulating Interferon activity on cells from individuals with trisomy 21.

“One cannot overemphasize the importance of the diversity in this research,” said Dr. Tom Blumenthal, Executive Director at the Crnic Institute. “The potential findings on the horizon from this research, made possible by funding from Global, may play a role in significant discoveries leading to an enhanced quality of life for those with Down syndrome that could possible benefit the typical population as well.”

“The Crnic Institute is the only academic home in the United States focused on research and medical care benefitting people with Down syndrome,” said Dr. Joaquin Espinosa, Associate Director for Science at the Crnic Institute. “Our grant program is truly the best in the nation and this year’s recipients have the potential to reveal novel strategies that could lead to therapies to improve the health outcomes of people with Down syndrome in our lifetime.”

The grant awards are part of the Crnic Grand Challenge Grants program that provides $1 million in new funding for Down syndrome research each year. An additional seven grant recipients were announced today by the Crnic Institute and Global Down Syndrome Foundation as part of the World Down Syndrome Day Celebration at the Colorado Capitol Building Governor with Hickenlooper and other dignitaries in attendance:

  • Ganna Bilousova, Ph.D., Assistant Professor, Department of Dermatology, University of Colorado School of Medicine, Anschutz Medical Campus – Exploring Endothelial Progenitor Cell Defects in Down Syndrome
  • Kirk Hansen, Ph.D., Associate Professor, Department of Biochemistry and Molecular Genetics – Metabolic Alterations of Trisome 21
  • Mike Klymkowsky, Ph.D., Professor, Department of Molecular, Cellular and Developmental Biology, University of Colorado Boulder – Inductive signaling in human iPSC-derived euploid and trisomic 21 cerebral organoids
  • Changwei Liu, Ph.D., Assistant Professor, Biochemistry and Molecular Genetics – Investigating the role of ubiquitin-proteasome system in Down Syndrome development
  • Chad Pearson, Ph.D., Assistant Professor, Department of Cell and Developmental Biology – A new ciliary basis for understanding Down syndrome phenotypes
  • Rui Yi, Ph.D., Associate Professor, Department of Molecular, Cellular and Developmental Biology, University of Colorado Boulder – Investigate molecular mechanisms of miR-155 in leukemogenesis associated with Down syndrome
  • Will Old, Ph.D., Assistant Professor, Department of Molecular, Cellular and Developmental Biology, University of Colorado Boulder – Effects of DYRK1A Overexpression on the Neuronal Signaling Landscape in Trisomy 21

“Global and the Crnic Institute have taken a leadership role in Down syndrome and Alzheimer’s research,” said Michelle Sie Whitten, President and CEO of Global Down Syndrome Foundation. “If these grants are able show inflammation in the brain is correlated with cognitive delay and Alzheimer’s, the next step would be to identify drugs that can decrease such inflammation and possibly reverse cognition deficit or Alzheimer’s.”

The Global Down Syndrome Foundation provides outreach and raises funds for the Linda Crnic Institute for Down Syndrome on the Anschutz Medical Campus – the first and only academic home for Down syndrome research and medical care in the United States.  Global funding helps to underwrite impactful basic and clinical research benefiting people with Down syndrome. To date, Crnic Grand Challenge Grants have awarded $6.7 million in research grants to 33 labs representing over 100 investigators.

To contribute to the Global Down Syndrome Foundation mission or to learn more please visit GlobalDownSyndrome.org.

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About the Global Down Syndrome Foundation
Global Down Syndrome Foundation is a public nonprofit dedicated to significantly improving the lives of people with Down syndrome through research, medical care, education and advocacy. Global supports two affiliates which together constitute the only academic home in the United States committed solely to research and medical care for people with Down syndrome – the Crnic Institute for Down Syndrome and the Sie Center for Down Syndrome. Global also publishes Down Syndrome World, a national award-winning quarterly magazine. For more information, visit www.globaldownsyndrome.org. Follow Global Down Syndrome Foundation on Facebook & Twitter @GDSFoundation.

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 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.

MEDIA CONTACT:
Taylor Shields, Global Down Syndrome Foundation
303 468 4975
TShields@GlobalDownSyndrome.org