In a light-flooded office on the University of Colorado’s Anschutz Medical Campus, research scientist Joaquin Espinosa pulses with enthusiasm as he talks about his work.
“This is very exciting,” he says over and over.
Espinosa is the executive director of the Linda Crnic Institute for Down Syndrome, where, working with more than 100 scientists at 34 different labs across Colorado, he has helped build perhaps the world’s premier network for the study of Down syndrome. What they have been learning could revolutionize treatment for the roughly 400,000 people in America with Down syndrome and radically improve their quality of life.
But Espinosa also sees an opportunity to solve health problems afflicting all humans, and he ticks through the clues: People with Down syndrome have high rates of early-onset Alzheimer’s and auto-immune diseases, and they are more likely to suffer from congenital heart defects. But they get fewer cancers, and they have low rates of coronary disease as they age — meaning, Espinosa says, they appear to be somewhat “protected” from the nation’s two leading causes of death.
“People with Down syndrome can give you a window into understanding 50 percent of all deaths in America,” he says. “There is just no way we don’t find something that helps the bigger population.”
But gaining that insight will come only with more research funding, and that is where Espinosa’s giddy excitement crashes into a bureaucratic barrier.
This year, the National Institutes of Health — the federal government’s piggy bank for health research — will spend about $28 million on Down syndrome research, according to the Colorado-based Global Down Syndrome Foundation. That is less than one-tenth of 1 percent of the total National Institutes of Health budget. And it trails funding for diseases such as cystic fibrosis and fragile X syndrome, which are less common than Down syndrome.
In the hope of boosting the research dollars, Espinosa on Wednesday will testify in Washington, D.C., at the very first-ever congressional hearing held on Down syndrome funding. Also testifying will be Michelle Sie Whitten, the president and CEO of the Global Down Syndrome Foundation. One of Whitten’s children has Down syndrome.
“This represents an important opportunity to build congressional support for increased federal funding for research to improve the lives of our loved ones with Down syndrome and millions (of) others with Alzheimer’s disease, cancer and other conditions,” Whitten said in a statement.
As Global Down Syndrome Foundation spokeswoman Anca Call put it, “This hearing, for us, is a huge deal.”
Down syndrome is caused by a genetic quirk. While typical people have two copies of each of their chromosomes, people with Down syndrome have three copies of their 21st chromosome. Espinosa said this not only impacts the genes that are coded on those chromosomes but also how genes on other chromosomes work, giving people with Down syndrome a completely different “disease spectrum.”
Part of the reason for the difference, he said, appears to be related to the immune system — which in many people with Down syndrome is often in high-gear trying to fight off a viral attack even when one doesn’t exist. This could contribute to the high rates of auto-immune diseases and other conditions seen in people with Down syndrome, Espinosa said. But it also may explain why rates of many cancers are so low in people with Down syndrome.
This area of research has developed only in the past decade or so, Espinosa said, as other improvements in caring for people with Down syndrome have increased their average life expectancy and allowed scientists to learn more about how people with Down syndrome age. To further the research even more, the Crnic Institute has joined with the pharmaceutical company Biogen to conduct a 1,500-person study it is calling the Human Trisome Project. The study will track hundreds of people with Down syndrome over the years and compare data from blood, saliva and other tests to those of people without Down syndrome.
For Espinosa, this could lead to the biggest breakthrough of all: helping people with Down syndrome live the lives they want to. But only if there is money to pay for the research.
“At the end of the day,” he said, “it’s also about social justice and diversity and inclusion.”
