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Groundbreaking research could improve cognition for people with Down syndrome

downsyndrome
Posted at 5:22 PM, Apr 07, 2022
and last updated 2022-04-07 17:22:49-04

Sophia Whitten is a high school senior who loves music and famous singers.

“Ed Sheeran, Dolly Parton, Miley Cyrus and many more,” Whitten said.

In fact, she just recorded her first single in Nashville titled "Sorry."

Her mother, Michelle Sie Whitten, says she’s quite similar to other teenagers, but she faces some challenges that are unique because she has Down syndrome.

Whitten says Down syndrome is the leading cause of developmental delay, but there’s historically been a lack of research about the condition. That's why she started the "Global Down Syndrome Foundation."

“The Global Down Syndrome Foundation is a nonprofit that focuses on research and medical care," Sie Whitten said. "And our goal is to improve health outcomes and elongate life for people with Down syndrome.”

Her nonprofit has been fundraising for the "Linda Crnic Institute for Down Syndrome."

“The Crnic Institute for Down Syndrome is so important because it's the first in the U.S. to tackle research and medical care for people with Down syndrome,” Sie Whitten said.

That research is now paying off with some groundbreaking results. Dr. Huntington Potter is the director of Alzheimer’s Disease Research at the Institute.

“People with Down syndrome are born with three copies of chromosome number 21, and they have developmental problems and other challenges throughout their life," Dr. Potter said. "But they also all develop the pathology of Alzheimer's disease by the time they're 30 or 40.”

Dr. Potter has discovered a direct connection between Alzheimer’s disease and Down syndrome. In a study published in late March, he found that an FDA-approved drug called GM-CSF which has shown memory improvement in Alzheimer’s patients could also help people with Down syndrome.

“What our hope is if all the clinical trials are safe and successful, is that this drug would be able to improve the memory and cognition of people with Down Syndrome," Dr. Potter said. "Possibly from an early age, and make them more able to live independently, more able to participate in the society, and more able to hold a job, for instance.”

Dr. Potter claims this is the first study on Down syndrome. He says human trials with the drug will start in two years, and if all goes well, people with the condition all over the U.S. will have access to a treatment that improves memory and cognition.

“Dr. Potter's work can help us live longer and healthier lives,” Whitten said.

A long and healthy life is what Sophia is very much looking forward to. She's planning to study sports medicine in college.