"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 that we might one day be able to do it."
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: At Mass. General, two clinical trials of drugs intended to improve the cognitive capacities of adults with Down syndrome are set to start in the next few months.
The hope is that drug therapies, even given in adulthood, could partly restore normal function in the brains of people with Down syndrome. But the condition alters brain development in the womb, so some scientists believe that to be most effective, therapies would need to be administered during pregnancy. Nobody is sure whether the UMass technique could ever be leveraged as a treatment either.
Two drugs will be tested at Mass. General, one made by the Swiss pharmaceutical company, Roche, and another by Elan Corporation in Ireland.
The idea of treating the core problems of Down syndrome and not just the medical problems that accompany it, appeals to families, even though such drugs would be unable to reverse all the developmental problems.
Image: Laboratory dishes, via Shutterstock