October 1, 2022

A race against time for Down syndrome research

Is it possible to cure Down syndrome? Alberto Costa, a 48-year-old physician and neuroscientist at University of Colorado-Denver School of Medicine, thinks so. He has started a clinical trial on young adults with Down syndrome to see if the drug memantine helps them become “smarter”. It is the first randomized clinical trial ever to take a drug that worked in mice with Down syndrome and apply it to humans.

Is it possible to cure Down syndrome? Alberto Costa, a 48-year-old physician and neuroscientist  at University of Colorado-Denver School of Medicine, thinks so. He has started a clinical trial on young adults with Down syndrome  to see if the drug memantine helps them become “smarter”. It is the first randomized clinical trial ever to take a drug that worked in mice with Down syndrome and apply it to humans.

Other scientists are hopeful, too. According to Craig C. Garner, a Down syndrome expert at Stanford University, “The last 10 years have seen a revolution in neuroscience, so that we now realize that the brain is amazingly plastic, very flexible, and systems can be repaired.”

In a fascinating feature in the New York Times Magazine, Dr Costa explains that his passion to find drugs which could help people with Down syndrome began when his only daughter, Tyche, was born with it.

“All I could think is, She’s my baby, she’s a lovely girl and what can I do to help her? Obviously I was a physician and a neuroscientist who studies the brain. Here was this new life in front of me and holding my finger and looking straight in my eyes. How could I not think in terms of helping that kid?”

However, Costa complains that he is finding it difficult to get funding for his research. Cystic fibrosis, which affects 30,000 people in the US, gets US$68 million in reseach funding. Down syndrome, which affects 300,000 to 400,000 got $22 million in 2011.

The reason? Down syndrome children are being aborted so fast that funding bodies think that there is little point in looking for a cure. “The geneticists expect Down syndrome to disappear,” Costa says, “so why fund treatments?” He fears that new quick non-invasive diagnostic tests will lead almost all women to abort Down syndrome children.

“It’s like we’re in a race against the people who are promoting those early screening methods. These tests are going to be quite accessible. At that point, one would expect a precipitous drop in the rate of birth of children with Down syndrome. If we’re not quick enough to offer alternatives, this field might collapse.”

Michael Cook
Down syndrome
genetic testing