Reprogramming skin cells to fix bad chromosomes, treat genetic disease

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A scientist is studying how to repair damaged chromosomes by taking skin cells and reprogramming them to work like embryonic stem cells. (KABC)

Genetic diseases that don't have cures include cystic fibrosis, Down syndrome and muscular dystrophy. Now scientists are figuring out ways to treat these conditions at the DNA level. The idea is to fix bad chromosomes.

Our bodies contain 23 pairs of chromosomes, 46 in total. But if chromosomes are damaged, they can cause birth defects, disabilities, growth problems, even death.

Case Western Reserve University scientist Anthony Wynshaw-Boris is studying how to repair damaged chromosomes with the help of a recent discovery: He's taking skin cells and reprogramming them to work like embryonic stem cells, which can grow into different cell types.

"You're taking an adult or a child's skin cells -- you're not causing any loss of an embryo -- and you're taking those skin cells to make a stem cell," said Wynshaw-Boris.

Scientists studied patients with a specific defective chromosome that was shaped like a ring. They took the patients' skin cells and reprogrammed them into embryonic-like cells in the lab. They found this process caused the damaged "ring" chromosomes to be replaced by normal chromosomes.

"It at least raises the possibility that ring chromosomes will be lost in stem cells," said Wynshaw-Boris.

While this research was only conducted in lab cultures on the rare ring-shaped chromosomes, scientists hope it will work in patients with common abnormalities like Down syndrome.

"What we're hoping what happens is we might be able to use, modify, what we did to rescue cell lines from any patient that has any severe chromosome defect," said Wynshaw-Boris.

It's research that could one day repair faulty chromosomes and stop genetic diseases in their tracks.


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