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Joey BunchJoey BunchOctober 20, 20175min6870

 

When a U.S. House committee holds the first-ever hearing on Down syndrome research next week, Colorado’s groundbreaking work and generous philanthropy will be in the spotlight.

The House Health and Human Services Subcommittee is scheduled to hear testimony on science and discoveries on major diseases next Wednesday morning.

More specifically, “on current and future research funding priorities to accelerate scientific discovery that will benefit individuals with Down syndrome and lead to new therapies to treat Alzheimer’s disease, cancer, and other major diseases.”

On a five-member panel of experts, three are from Colorado: Michelle Sie Whitten, founder, CEO and president of the Global Down Syndrome Foundation, and Frank Stephens, the Quincy Jones Advocate for the Denver-based foundation, who lives in the Washington, D.C., area, as well as Dr. Joaquin M. Espinosa. executive director of the Linda Crnic Institute for Down Syndrome at the University of Colorado School of Medicine.

The congressional committee will hear about a project at the Crnic Institute at the University of Colorado School of Medicine Anschutz Campus about connections between Down syndrome and Alzheimer’s and other major diseases.

The Crnic Institute Human Trisome Project will recruit 1,000 people with Down syndrome and 500 people without it, so researchers can sequence and study several layers of genomics. The institute has enrolled 300 people in the project’s first 11 months.

“People with Down syndrome have a different disease spectrum,” Espinosa said in a statement. “The Crnic Institute HTP will allow us to redefine Down syndrome from the least scientifically understood condition to one of the best understood conditions. In addition, it will provide unprecedented understanding of Alzheimer’s disease, autoimmune conditions, cancers and other medical conditions that people with Down syndrome are either very predisposed to or protected from, eventually enabling the development of new diagnostic and therapeutic tools.”

Researchers so far have found that people with Down syndrome will develop the same pathology as Alzheimer’s, but nearly 40 percent will never get dementia. Less than 1 percent of people with Down syndrome will ever develop any solid-tumor cancer, such as breast cancer, prostate cancer and other forms of the disease.

The bioscience technology company Biogen has committed more than $500,000 plus in-kind support for the research project, with $1 million from the University of Colorado School of Medicine at the Anschutz Medical Campus and a matching $1 million from the Global Down Syndrome Foundation.

The National Institutes for Health is bracing for the possibility of budget cuts requested by the White House, and it’s counting on Congress to push back.

The lead federal agency on medical research has a budget of $34.1 billion this year. President Trump wants that lowered to $26.9 billion in his first budget. The House approved $35.2 billion in its budget bill last month, and the Senate figure is $36.1 billion so far.

The subcommittee of the House Appropriations Committee has 30 Republicans and 22 Democrats, but none of them are from Colorado.

(Editor’s note: This story was updated to include Frank Stephens’ residency.)


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