A new drug manufactured by the Elan Corporation in Ireland that could be used to treat Down Syndrome and the medical problems that accompany it, will soon be tested by the Down Syndrome Program at Massachusetts General Hospital.
According to the Boston Globe researchers at the University of Massachusetts have shown that it is possible to do what had once seemed unthinkable, to shut down the extra chromosome that causes the developmental problems and intellectual disabilities in people with Down syndrome.
Although the result has so far only been accomplished with human cells grown in laboratory dishes, the medical team have found a way to suppress the extra chromosome that accompanies Down Syndrome, raising the possibility that eventually a similar shutdown could be engineered in people.
If successful the new approach could perhaps short-circuit some of the manifestations of Down syndrome itself. (People with Down syndrome are born with three, not the usual two, copies of chromosome 21.)
'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 Doctor Brian Skotko, co-director of the Down Syndrome Program at Massachusetts General Hospital. 'I don’t think any of us thought it was possible or even within the current realm of scientific dreaming.'
In the decades since the chromosome abnormality was identified in 1959, there has been little serious discussion about trying to treat its complex underlying biological cause.
But new research and advocacy are beginning to change the discussion, the Boston Globe reports.
According to the Globe, researchers at Massachusetts General are preparing to launch two clinical trials of drugs intended to improve the cognitive capacities of adults with Down syndrome. The studies are set to start in the next few months.
The hope is that drug therapies, even given in adulthood, could partly restore normal functioning to the brains of people with Down syndrome.
But since the condition alters brain development in the womb, some scientists believe that to be most effective therapies would need to be administered during pregnancy.
Doctor Jeanne Lawrence, a professor at University of Massachusetts Medical School, is credited with discovering a way to silence the extra chromosome in Down Syndrome.
The researchers started with stem cells that had been created by reprogramming skin cells taken from a man with Down Syndrome. Promising tests of gene activity suggested the extra chromosome had stopped functioning.
In brain cells without the extra chromosome, cells were able to grow more rapidly and were better able to form progenitors of other brain cells. The team are continuing to test the differences between cells, and are hoping next to use the technology to shut down the extra chromosome in a mouse with a version of Down Syndrome.
Prior to publication of the paper, Lawrence presented her results to a conference of researchers in Washington, D.C.
'I really believe people’s jaws dropped at that meeting,' Doctor Diana Bianchi, executive director of the Mother Infant Research Institute at Tufts Medical Center, told the Globe.
Bianchi told the Globe she was particularly interested in the effect that shutting off the chromosome had on brain cell formation, since she is interested in developing prenatal therapies that could normalize brain development in the womb.