Global Down Syndrome Foundation Awards $1M in Crnic Institute Research Grants

Denver City Hall Celebrates World Down Syndrome Day

Colorado Capitol Celebrates World Down Syndrome Day

People with Down syndrome, community leaders and advocates gather in the Capitol on World Down Syndrome Day

DENVER, CO (March 22, 2017) – Global Down Syndrome Foundation celebrates World Down Syndrome Day alongside Governor Hickenlooper and other notable Global supporters by announcing $1M in funding for thirteen investigators at the Linda Crnic Institute for Down Syndrome. Governor Hickenlooper was joined by Global board members Anna and John J. Sie, and Ricki Rest in celebrating World Down Syndrome Day inside the Colorado capitol. Additionally, the Capitol and City Hall buildings were illuminated blue, an initiative spearheaded by First Lady Robin Pringle Hickenlooper, as a symbol of support for research and medical care that improves the lives of people Down syndrome.

“The Governor and First Lady advocate for equality and parity for our Down syndrome community. We are so fortunate to have their support,” said Michelle Sie Whitten, President and CEO of Global Down Syndrome Foundation. “Global is also fortunate to have the best scientists in the world, and we couldn’t do this work without wonderful donors, from ten dollars to a hundred thousand, who allow us to save lives.”

The Global Down Syndrome Foundation provides outreach and raises funds for the Sie Center for Down Syndrome at Children’s Hospital Colorado and 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 $7.7 million in research grants to 33 labs representing over 100 investigators.

“The Crnic Grants funded by Global have propelled Down syndrome research forward in a way that I couldn’t have anticipated,” said Dr. Tom Blumenthal, Executive Director at the Crnic Institute. “These grants have attracted investigators who are the best and brightest in their fields to spend time researching Down syndrome. Through this model, we have made significant discoveries that I hope will lead to treatments and even cures for diseases that people with Down syndrome are more prone to.”

People with Down syndrome are protected from solid tumor cancers and cardiovascular disease; however, are more prone to immune system disorders that create susceptibility to leukemia, diabetes, and cognitive impairment.

Many of the 2017 grants awarded build on seminal research published last year, a result of previous Crnic Grand Challenge Grants, recasting Down syndrome as an immune disorder:

Kelly Sullivan, Instructor in the Department of Pharmacology, University of Colorado School of Medicine on the Anschutz Medical Campus, The role of IFN signaling in Down syndrome pathology in vivo

Specific group of proteins, known as interferons, 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.

Michael Yeager, Associate Professor of Bioengineering and Pediatrics at University of Colorado School of Medicine on the Anschutz Medical Campus, Interferon and Interleukin-10 Mediated Immune Suppression in Down Syndrome Maintains a Post-Viral Like State of Susceptibility to Severe Pneumonia

Immune system disturbances experienced by individuals with Down syndrome account for an enormous disease burden ranging from quality-of-life issues (hair loss), to more serious health issues (thyroid disease) and life-threatening issues (leukemia, respiratory tract infections). The Yeager lab will shed light on why the immune system does this. Their goal is to drive the development of newer therapies to help individuals with Down syndrome.

William Old, Assistant Professor of Molecular, Cellular, and Developmental Biology at University of Colorado Boulder, DYRK1A inhibitor mediated rescue of Down syndrome phenotypes in cerebral organoids

Identifying genes with altered protein expression in Down syndrome may lead to developing new therapeutic strategies to alleviate issues with neurodevelopment and neurodegenerative pathologies.

Chad Pearson, Assistant Professor of Cell and Developmental Biology at University of Colorado School of Medicine on the Anschutz Medical Campus, Ciliary trafficking defects and cerebellar hypoplasia in Down syndrome

This research will focus on a new ciliary basis for understanding Down syndrome phenotypes resulting from altered cell signaling.

Ken Maclean, Associate Professor of Pediatrics at University of Colorado School of Medicine on the Anschutz Medical Campus, Endoplasmic reticulum stress, impaired proteostasis, autophagy and lysosomal dysfunction: Towards the rational design of novel treatments for age-related cognitive decline in Down syndrome

Maclean will test a highly specific inhibitor of a key protein active in the Unfolded Protein Response as a potential therapeutic target for cognitive deficits in Down syndrome.

Elena Hsieh, Assistant Professor of Immunology and Microbiology at University of Colorado School of Medicine on the Anschutz Medical Campus, Understanding the Hyperactive Interferon Response in Trisomy 21 at the Single-Cell Level

Brian O’Connor, Associate Professor, Center for Genes, Environment and Health at National Jewish Health, Examining Chromatin Regulation of Adaptive Immune Dysfunction in Down Syndrome

O’Connor will use advanced technology to look at all of the chromosomes in Down syndrome, not just the one that is triplicated, to determine the extent to which gene expression is affected by chromosome structure.

Zhe Chen, Assistant Research Professor of Molecular, Cellular, and Developmental Biology at University of Colorado Boulder, Characterizing axon myelination in Down syndrome models

Csaba Galambos, Pathology and Laboratory Medicine, Associate Professor, University of Colorado School of Medicine on the Anschutz Medical Campus, Overexpression of anti-angiogenic genes impairs lung development in Dp16 mice

This lab will determine if abnormal lung development results from a low blood supply due to over expression of a gene whose protein product inhibits new blood vessel growth.

Niklaus Mueller, Research Assistant Professor of Ophthalmology at University of Colorado School of Medicine on the Anschutz Medical Campus, Malformation of the Ocular Lens in Down Syndrome Visual Impairment

One of the genes triplicated on chromosome 21 encodes a component of the lens. These investigators will determine whether it is this extra lens protein that results in distortion of the eye and cataracts.

Laurel Lenz, Professor of Immunology at University of Colorado School of Medicine on the Anschutz Medical Campus, Mechanisms responsible for increased type I IFN responses in Trisomy 21

Jingshi Shen, Associate Professor of Molecular, Cellular, and Developmental Biology at University of Colorado Boulder, Does trisomy 21 cause dysregulation of cytotoxic lymphocyte-mediated cell killing?

Santos Franco, Assistant Professor of Pediatrics at University of Colorado School of Medicine on the Anschutz Medical Campus, Defects in Neurogenesis and Neuronal Migration in DS Mouse Models: Elucidating the Developmental and Molecular Mechanisms

For information on all of the grant recipients and their research please visit http://globaldownsyndrome.org/crnic-grants

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About Down Syndrome
Down syndrome is the most commonly occurring chromosomal condition, affecting one out of every 691 live births in the U.S., according to the Centers for Disease Control and Prevention. Because of the end of widespread institutionalization, better medical care, improved access to education and greater societal inclusion, people with Down syndrome are living longer and more productive lives, with the average life span increasing from 25 years in 1983 to 60 years today. To contribute to the Global Down Syndrome Foundation mission or learn more please visit GlobalDownSyndrome.org.

About 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 and the Anna and John J. Sie Center 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.