Each year, 6,000 children are born with Down syndrome, but a major medical breakthrough may make it possible one day to find a cure.
The University of Massachusetts Medical School has set the medical research field abuzz. Is it possible to "turn off" Down syndrome? Maybe so, according to a new study.
Think of light bulbs as chromosomes. We're supposed to have 23 pairs, but people with Down syndrome are born with an extra chromosome.
Researchers used gene therapy to turn off that extra chromosome in lab tests on cells from children with Down syndrome.
"The hope is that if it could be done, that it would help to reduce some of the symptoms associated with Down syndrome, or potentially alleviate them," said Courtney Burans, a certified genetic counselor with Lehigh Valley Health Network.
Because the extra chromosome is in every cell of the body, Burans said the practical use of this finding would likely start by targeting certain areas affected by the condition.
For example, children who have Down syndrome have a higher chance of dementia as they get older, but if cells of the brain could somehow be targeted, the thinking is that particular risk may be reduced.
"It's pretty exciting science," said Bobby Lanyon, a WFMZ-TV account executive, parent of a child with Down syndrome, and the vice president of the board of directors for the Eastern Pennsylvania Down Syndrome Center.
Lanyon said the local Down syndrome community is also abuzz. Many people are asking what the discovery could mean for the cognitive and physical aspects of the condition, and raising moral and ethical questions.
"I don't know where I fall on it. It's exciting science, but until we know exactly what it is going to influence, we will just stay tuned," said Lanyon.
And you can rest assured he will, for a long time. Scientists said there will likely be no real answers or applications for at least 10 years or more.