Blog Down Syndrome (DS) Awareness Ribbon

Inside BRI's Down Syndrome Biorepository

Bernard Khor

Bernard Khor, MD, PhD, became interested in studying the immune systems of people with Down syndrome during his postdoctoral training. It was a little-understood area of research. But scientists were learning that people with Down syndrome were more likely to develop autoimmune disease and experience complications from common infections.

It was exactly the research Dr. Khor wanted to do: it had the potential to make a big impact on human health, especially for people who are often underrepresented in biomedical research. Now, Dr. Khor is a field leader and played a key role in building BRI’s Down Syndrome Biorepository. He shares insights about this biorepository and why it’s important.

Q: Tell us more about your research. What questions are you asking?

A: We’re investigating why people with Down syndrome:

  • Are more likely to develop autoimmune diseases.
  • Have more serious complications of infections like the flu.
  • Don’t respond well to vaccines — and how to make vaccines more effective in this group.

Studying the immune systems of people with Down syndrome also provides key insights into how the immune system works in general.

“None of this would be possible without our research participants. Without them, we’re just guessing.”

Bernard Khor, MD, PhD

Q: Why are biorepositories important in this research?

A: Studying blood and tissue samples allows us to examine immune system cells and processes. That helps us pinpoint what’s going wrong and informs new potential treatments.

Patient samples are essential because they ensure the questions we’re asking — and the answers we find — are directly relevant to the people we hope to help.

Q: What is one of the biggest discoveries you’ve made?

A: We’ve learned that the immune systems of people with Down syndrome look between five and 20 years older than that individual’s actual age. As people age, their immune system has a harder time fighting infections. This may help explain why people with Down syndrome are prone to severe infections and generally don’t have strong responses to vaccines.

Cate Speake, PhD, and I are developing a study to see if a high-dose flu vaccine — which offers greater protection for people over age 65 — would be more effective for people with Down syndrome. This may help lower the number of people with Down syndrome who die every year from respiratory infections.

Q: Why are research participants important?

A: None of this would be possible without our research participants. Without them, we’re just guessing — we wouldn’t know what was going on in people. We couldn’t build diagnostics and therapies. They are the champions of our research and the foundations on which this work is built.

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