Researchers at the University of Massachusetts Medical School have shown that it is possible to do what had once seemed unthinkable — shut down the extra chromosome that causes the developmental problems and intellectual disabilities in people with Down syndrome.
The surprising result, so far accomplished only with human cells grown in laboratory dishes, is the fruit of a daring, out-of-the-box approach by a scientist whose work has been shaped by her early experience counseling families of children with disabilities.
“It really is revolutionary, in terms of causing us all to rethink the one impossible thought — can you make, functionally, that extra chromosome disappear,” said Dr. Brian Skotko, co-director of the Down Syndrome Program at Massachusetts General Hospital, who was not involved in the new study. “I don’t think any of us thought it was possible or even within the current realm of scientific dreaming.”
The gist of the discovery is this: People with Down syndrome are born with three, not the usual two, copies of chromosome 21. The UMass team found a way to suppress the expression of that extra chromosome, raising the possibility that eventually, a similar shutdown could be engineered in people, perhaps short-circuiting some of the manifestations of Down syndrome.
The discovery, published Wednesday in the journal Nature, highlights a broad shift in how scientists, doctors, and families view Down syndrome. In the decades since the chromosome abnormality was identified in 1959, there had been little serious talk about trying to treat its complex underlying biological cause. But research and advocacy are beginning to change the discussion.
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