Tom RamstackTom RamstackOctober 26, 20177min933

WASHINGTON — Actor and Down syndrome advocate Frank Stephens was greeted by a standing ovation after he testified at a congressional hearing Wednesday.

Stephens, who lives in the Washington, D.C, area, spoke on behalf the Denver-based Global Down Syndrome Foundation at a hearing to determine whether Congress should fund more research into the genetic abnormality.

“I am not a research scientist,” Stephens said in stammering voice. “However, no one knows more about life with Down syndrome than I do. I am a man with Down syndrome, and my life is worth living.”

To see a video of Stephens’ full testimony, click here.

The House Appropriations subcommittee on Labor, Health and Human Services is considering a proposal for the National Institutes of Health to use Down syndrome research to find treatments for heart disease, hypertension and solid-tumor cancers.

The cancers and cardiovascular illnesses kill millions of Americans each year. Very few of them have Down syndrome.

Researchers believe the overactive immune systems of people with Down Syndrome play a role in preventing heart problems and solid-tumor cancers, such as breast cancer and prostate cancer. Now Congress wants to know whether lessons can be learned from Down Syndrome to protect the rest of the population.

Some of the research was done at Linda Crnic Institute for Down Syndrome at the University of Colorado School of Medicine.

Joaquin M. Espinosa, the Crnic Institute’s executive director, told Congress the research they are considering funding could represent “one of the most spectacular developments in the history of medicine and biomedical research.”

“They are either strongly protected or strongly predisposed to major medical conditions that affect the typical population,” Espinosa said about persons with Down syndrome.

The same syndrome that protects them from heart attacks, also heightens their risk for Alzheimer’s disease, leukemia, arthritis, diabetes and thyroid problems, Espinosa said.

Using their altered chromosomes to figure out how Alzheimer’s and the other diseases are triggered could help researchers deactivate the diseases’ biological origins, he said.

“I hope you will agree that this population deserves special attention,” Espinosa said.

He described a grim outlook if current trends continue without cures that Down syndrome research might offer.

The financial toll for treating and caring for Alzheimer’s patients reaches into the billions of dollars each year. As the average age of Americans increases, Alzheimer’s and related dementia will play a bigger role in their lives, striking as many as one in three people, he said.

Down syndrome also is on the rise, affecting as many as 400,000 Americans, Espinosa said. Four times as many cases are reported now than in the 1950s.

“Simply put, people with Down syndrome are here to stay,” Espinosa said.

Down syndrome is a genetic disorder caused by the presence of three copies of chromosome 21, compared with two in most people. It is associated with growth delays, facial features and moderate intellectual disability. The adults typically have the mental ability of an average 8- or 9-year old child.

Most parents of persons with Down Syndrome are genetically normal. No known behaviors or environmental factors cause the syndrome. There is no cure for it.

Down syndrome can be detected through prenatal screening, which often leads the parents to seek abortions.

Colorado’s role in assisting persons with Down Syndrome took a leap forward in 2009 when the nonprofit advocacy group Global Down Syndrome Foundation was formally established. The foundation’s primary focus is supporting the Crnic Institute.

Michelle Sie Whitten, executive director of the foundation, told Congress the syndrome was the Rockville, Maryland-based National Institutes of Health’s least-funded genetic condition.

Whitten was a co-founder of the foundation. She has a 14-year-old daughter, Sophia, with Down syndrome.

“We consider Sophia a gift who has enriched our lives and all those around her,” Whitten said.

The Global Down Syndrome Foundation has used much of its roughly $8 million in annual revenue to promote research into Down syndrome.

Research that led to the congressional hearing Wednesday is being done at 38 laboratories and by more than 140 scientists, Whitten said.

“The science stands ready but now we need our colleagues at NIH (the National Institutes of Health) to think in new ways with us to leverage these amazing breakthroughs and consider for a moment how this can be done,” she said.

Despite words of support from members Congress, the research funding proposals face tough obstacles.

Part of the funding Whitten seeks would come from the NIH budget for Alzheimer’s disease research. The House Appropriations subcommittee proposed spending $1.8 billion for NIH research into Alzheimer’s in fiscal 2018, a $400 million increase over the previous year.

However, the Trump administration wants to decrease scientific research funding to help reduce the federal deficit.

“The potential for scientific breakthroughs related to Down syndrome has never been greater than it is today,” said Rep. Rosa DeLauro, D-Conn.


Joey BunchJoey BunchOctober 20, 20175min1508


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.)