The Linda Crnic Institute for Down Syndrome at the University of Colorado School of Medicine will play a significant role in a new National Institutes of Health (NIH) effort to study people with Down syndrome from birth to adulthood with unprecedented detail.
The long-term NIH study, called the Down Syndrome Cohort Development Program (DS-CDP), is led by NIH’s INCLUDE Project. It aims to engage and enroll thousands of individuals with Down syndrome across the U.S., including those who have been historically underrepresented in Down syndrome research.
The goal of the new program is to deepen understanding of Down syndrome, accelerate knowledge of health conditions that more commonly affect those with Down syndrome, and ultimately improve the quality of life for these individuals and their families.
Latin American connection
As part of the DS-CDP, the Crnic Institute has received a $2.7 million grant from the NIH to launch the Human Trisome Project–Latin America Network, a network of research and medical care sites across the United States and in Latin America to investigate clinical characteristics and identify distinguishing health issues or treatments for Latinos with Down syndrome.
“Latinos are the fastest-growing segment of the population with Down syndrome in the U.S.,” says Joaquín Espinosa, PhD, executive director of the Crnic Institute, which was founded in 2008, with strong support from the Global Down Syndrome Foundation, as one of the only academic centers in the world fully devoted to Down syndrome research. “About one in 700 newborns have Down syndrome, but the life expectancy has increased significantly. When you look at the proportions by race and ethnicity, Latinos have the steepest increase in numbers.”
Home to the biorepository
Participants in the DS-CDP study will share biological samples, health information, and other data, which will be made anonymous and available to those in the research community. A newly established DS-Biorepository at the Crnic Institute, funded by an additional $27 million NIH grant, will store and distribute all the biological samples.
“There will be thousands of people with Down syndrome, mostly in the U.S., but also in Latin America, contributing clinical data and biospecimens, with a goal of understanding Down syndrome across the lifespan, from newborns to older adults, and finding ways to help decrease the burden of co-occurring conditions that are more common in this population, including Alzheimer's and autoimmune disease,” says Espinosa, a professor in the Department of Pharmacology.
In the first two years of the study, multiple sites across the U.S. and Latin America will develop a shared protocol, including clinical characterization and collection of biospecimens, with the recruitment slated to begin in 2025. The Latin American network builds on the Human Trisome Project, a large cohort study of people with Down syndrome led by the Crnic Institute with support from the School of Medicine and the Global Down Syndrome Foundation. The initiative will establish primary sites in the U.S., Mexico, Colombia, Brazil, Argentina, and Chile, while conducting feasibility studies in Venezuela and Bolivia.
“The families will provide health data, and the common protocol will include abstraction of medical records, cognitive tests and characterization of Down syndrome by other metrics,” Espinosa says. “There will be biospecimen collection that will include a blood draw and possibly collection of biopsies, urine, and stool.”
Findings with bigger implications
The study has applications to the general population as well, Espinosa says, since the extra chromosome that causes Down syndrome gives those with the condition a different clinical risk profile.
“The philosophical pillar of this effort is that if you study people with Down syndrome, you will benefit people with Down syndrome, first and foremost, but you will also learn about a lot of other medical conditions,” he says. “People with Down syndrome have less of some medical conditions and a lot more of others. They have less cancer and heart disease, but they have more Alzheimer's disease, autoimmune conditions, autism, and complications from viral lung infections. When you study a lot of people with Down syndrome, you find ways to help them, but you also make discoveries that will benefit the general population as well.”
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