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DNA From Those With Down Syndrome Helps In Autoimmune Disease Research

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Dr. Richard Spritz (credit: CBS)

Dr. Richard Spritz (credit: CBS)

AURORA, Colo. (CBS4) – A University of Colorado genetics researcher needs the help of 500 people with Down syndrome. He believes studying their genes could lead to better treatments for Type 1 diabetes, celiac and thyroid issues.

Dr. Richard Spritz, director of the genetics program at the CU Medical School, needs DNA. No needles, no blood draw — just a simple collection of saliva to hopefully unlock some of the mystery surrounding autoimmune diseases.

Abby Frary cheers for the Denver Broncos. She was part of a drill team that rode horses at a therapy ranch and was born with Down syndrome; but the 17-year-old is almost always up, unless she’s feeling the effects of hypothyroidism.

“When we go off anywhere we always have to have make sure she’s got her medicine,” Abby’s mother Karen Frary said.

Abby also suffers from celiac disease. Her ailments are no surprise to Spritz.

“People with Down syndrome get autoimmune diseases at a very high rate; almost a half of people with Down syndrome,” Spritz said.

Spritz has discovered a gene on chromosome 21 that contributes to the occurrence of autoimmune diseases. Patients with Down syndrome have an extra copy of chromosome 21.

“By studying people with Down syndrome we’ll be able to understand not only what causes autoimmune disease in Down syndrome, but also in the general population,” Spritz said.

Abby was the first patient with Down syndrome to provide a DNA sample for Spritz. In total, he needs samples from 100 patients with Down syndrome who have autoimmune disease and 400 who don’t.

“I’m thinking that it’s going to be something that won’t just help Abby but will just help the general population as well,” Spritz said.

He hopes his research leads to prevention or treatment of autoimmune diseases in everyone.

Spritz’s study is possible largely because of a grant from the Global Down Syndrome Foundation. To sign up for the study, visit globaldownsyndrome.org to download the form.

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