When her son was born with Down syndrome (DS) in 2002, Rebecca Partridge, MD, couldn’t find a pediatrician to provide specialized care. So she did what any pediatrician mother would do: She started the Seattle area’s first DS clinic.

About 400,000 Americans have DS, a genetic disorder that occurs when people have an extra copy of the 21st chromosome. It leads to developmental challenges and other health issues, and almost half of DS patients have autoimmune diseases – but no one knows why. 

That’s why Dr. Partridge, who directs Virginia Mason’s DS program, and BRI’s Bernard Khor, MD, PhD, are leading one of the first studies that investigates autoimmunity in people with DS.

“If we can figure out when and why people with DS get autoimmune diseases, we’ll be able to treat those conditions better and maybe even prevent them – in people with DS and potentially in everyone,” Dr. Khor says.  

Understanding Immune Imbalances

Last year, Dr. Khor received a National Institutes of Health grant for this study. The grant helped him start building one of the nation’s first biorepositories of blood and tissue samples from people with DS. 

Dr. Khor’s team will use these samples to analyze immune cells from patients with DS  and patients with both DS and autoimmune disease. The researchers will compare their findings to samples from the patients’ healthy family members. 

“This helps us understand what healthy immune systems look like and identify what’s different in patients with DS,” Dr. Khor says. “It also gives us clues about what makes people with DS more susceptible to autoimmune disease.”

Pursuing Treatments

Dr. Khor hopes this research leads to better therapies for autoimmune diseases or even ways to prevent them. He already has an idea for how to do this. 

In a previous study, Dr. Khor found that blocking a gene called DYRK1A significantly reduces the activity of white blood cells – leading him to believe the gene might contribute to autoimmune disease, which is triggered when certain immune cells are overactive. 

People with DS have extra copies of DYRK1A, and Drs. Khor and Partridge are using the biorepository to learn more about it.

“If we can help people with DS balance their immune systems by blocking this gene, the same approach might work for other people too,” Dr. Partridge says.

Dr. Partridge isn’t only a co-investigator for the study – she and her son are participating in it by donating samples to the biorepository.

“BRI has done a great job of making sure this study is done appropriately and for the right reasons,” she says. “We want to help people with DS live happy and healthy lives. And if we can help everyone else with an autoimmune disease, that would be even better.”

Volunteering to Accelerate Research

Silas Palmisano was born with Down syndrome – and diagnosed with Crohn’s disease more than a decade later. “He was so sick he missed a month of school,” says Lynne Palmisano, Silas’s mom. “He’s been on three different medications, but he’s getting worse not better.” Dr. Partridge invited Lynne and Silas to participate in BRI’s new autoimmunity study, which aims to help improve treatment for patients like him – and potentially for everyone with autoimmune disease. “Silas never complains, but I know he’s in pain,” Lynne says. “We’re excited about helping doctors find better treatments.”

Originally published in BRING IT ON newsletter - Spring 2019