Can a simple blood test predict neurological changes in people with Down syndrome before symptoms appear? That’s the question Dr. Jonathan Santoro and his team at Children’s Hospital Los Angeles (CHLA) are working to answer, with serum samples from the DSA Biobank.
The Challenge: Finding Down Syndrome Serum Samples for Neurological Research
Dr. Santoro’s team needed serum from people with Down syndrome to test two things: whether a neurodegenerative autoantibody first found in cerebrospinal fluid can also be detected in blood, and whether its presence predicts neurological symptoms before they appear.
Few institutions keep a ready biobank for this population, and the CHLA lab’s own sample access was limited for exploratory work at this scale. The team spent more than six months searching for a partner before finding DSA Biobank.
Why Children’s Hospital Los Angeles Chose DSA Biobank
Speed moved the collaboration from inquiry to active project. DSA Biobank’s scientific review and needs-quantification process let Dr. Santoro’s team vet their proposal and get samples with little friction. It replaced what he described as a multi-year, multi-center organizing effort with a single responsive partner.
Inside the Study: A Blood Biomarker for Down Syndrome Regression Disorder
DSA Biobank provided 100 serum samples for the study. The work focuses on Down Syndrome Regression Disorder (DSRD) and related neurological conditions, including epilepsy and autoimmune-linked cerebrovascular disease. Using a proteome-wide antibody screening approach, Dr. Santoro’s team is testing serum from both affected and unaffected individuals. The goal is to find out whether this biomarker shows up before clinical symptoms, which would be a step toward earlier, more proactive care.
Research Scope and NIH Funding
The project grew out of an NIH-sponsored grant already underway in Dr. Santoro’s lab. That grant created new sample needs beyond the study’s original scope. Access to DSA Biobank can extend existing funded research this way, without waiting for a new grant cycle to get started.
Current Status and Timeline
Sample collection moved into analysis quickly, because both DSA Biobank and the lab’s infrastructure were ready to support the project at pace. The team expects preliminary results in about three months. They plan to use those findings for publication and to support future grant applications.
Asked what he’d tell another researcher considering DSA Biobank, Dr. Santoro was direct:
What This Research Makes Possible for Down Syndrome Neurological Care
If the exploratory results hold, the next step is a larger, NIH-funded study to refine the biomarker assay and move toward potential clinical trials. Dr. Santoro also expects a range of validation studies to build on this initial work.
DSA Biobank’s structured family cohorts keep growing, many of them made possible by families who become collaborative participants. As they grow, studies like this one can move from cross-sectional screening toward longitudinal and family-based designs, which widens what’s possible for Down syndrome research on neurological risk.
Dr. Santoro was candid about the trade-offs of working with a growing biobank. Fast sample acquisition stood out as a clear strength. Deeper phenotyping data, which isn’t currently banked but can be collected prospectively, would strengthen future work.
ABOUT DSA BIOBANK
DSA Biobank maintains more than 5,000 banked aliquots of serum, plasma, and DNA, along with structured family cohorts including parent-child triads, mother-child dyads, father-child dyads, and sibling controls — one of the few collections of its kind available to researchers. All biospecimen storage, management, and distribution services are provided by Cincinnati Children’s Hospital Medical Center (CCHMC) and the Discover Together Biobank. Learn more about our partners.
Frequently Asked Questions About the DSA Biobank
How can researchers request Down syndrome biospecimens from the DSA Biobank?
Researchers can submit our DSA Biobank Researcher Request Form. Each proposal goes through DSA Biobank’s scientific review and needs-quantification process, designed to move qualified studies forward quickly.
What types of samples does DSA Biobank hold?
The biobank holds more than 5,000 aliquots of serum, plasma, and DNA, along with family cohorts such as parent-child triads, parent-child dyads, as well as sibling controls.
How can I support Down syndrome research?
Families with a member who has Down syndrome can contribute a blood sample to DSA Biobank, and anyone can make a gift to help grow the first centralized biobank dedicated to Down syndrome research.