Cincinnati Children's Hospital is partnering with DownSyndrome Achieves (DSA)to create a research biobank with biospecimens donated by people with Down syndrome and their families. The goal is to collect things like blood, saliva and tissue samples that researchers around the world can use in clinical research.
Mike Pauciulo, director of the Cincinnati Children's Discover Together Biobank, says DSA approached Children's with the idea about a year ago because no such resource existed.
"There are a variety of conditions that individuals with Down syndrome get like Alzheimer's disease, childhood leukemia, heart defects," says Pauciulo. "There's a lot of interest in Down syndrome research so we're hoping to be able to build a resource that will cater to those researchers so they can make breakthroughs."
While some smaller biobanks exist for use only by their institutions, Bill Nichols, Ph.D., associate director of research in the Division of Human Genetics at Cincinnati Children's, says the aim here is to be one large, central repository open to researchers from anywhere in the world.
Researchers will submit applications explaining how and why they would like to use particular samples from the biobank and a committee will determine permission. The biobank will also collect data from donor/participants to accompany the samples.
"We would hope and anticipate there are many investigators around the country who are looking to study Down syndrome," Nichols explains. "One of the features of a biobank is that hopefully you have a very large cohort that gives you enough power to do some of the studies that you can't do if you only have a few samples."
Researchers could use the samples to do things like DNA sequencing, look for biomarkers, or aid in researching new therapies or treatments. The cause of Down syndrome - an extra chromosome - has been known for a long time, however less is known about some of the specific health concerns affecting people with Down syndrome. Pauciulo says the goal is the biospecimens and data will help researchers looking for treatments for those health concerns, improving clinical care and health outcomes.
"Down syndrome is understood and the cause of it is understood," Pauciulo emphasizes. "This project is not set up to 'cure' Down syndrome or anything like that. This is really something that is geared toward the health concerns that the Down syndrome population has. We want to make sure that's clear."
The pilot phase is complete and and people are beginning to enroll. Enrollment clinics in Cincinnati are planned later this year.
DownSyndrome Achieves is "a research advocacy group that envisions a future when Down syndrome comes without health complications."
