A drug traditionally used to prevent the rejection of organ transplants is giving new hope to parents of children with progeria, a rare genetic disorder that causes premature aging and death usually before age 12. Scientists at Children's Hospital and the National Institutes of Health are currently planning a large-scale clinical trial to see whether the drug rapamycin, or a similar medication, might help remove the damaging protein progerin from patients' cells.
According to a report in The Boston Globe:
It starts with a tiny genetic change, the equivalent of a single spelling error in the vast DNA manuscript that supplies the narrative of human biology. But for babies born with that errant genetic code, childhood becomes a race against traits more commonly associated with their grandparents. The children age rapidly, resembling octogenarians before they even become teenagers.
They lose their hair, develop osteoporosis, and ultimately suffer strokes and heart attacks during adolescence....
Because of a single mistake in the six billion letters in the genome, children with progeria accumulate too much of a protein called progerin in their cells. They develop bone and skin problems before their first birthday. They are smaller than their peers and have so much trouble keeping fat on their body that veins on their foreheads become visible. They suffer from the same cardiovascular problems that kill many adults and live, on average, to be only 12.
If successful, the clinical trial could offer hope to those afflicted with the rare disease, which affects an estimated 1 in 4-8 million newborns. It might also shed light on ways to repurpose existing drugs to fight other aging and neurological diseases like Parkinson's.