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Rare Diseases In Crosshairs Of A New Philadelphia Startup

PHILADELPHIA (CBS) -- A University City startup is assembling the troops for the fight against a rare disease -- with an eye on targeting more in the future.

Friedreich's ataxia affects about 1 in 50,000 people in the United States.

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Chondrial Therapeutics CEO Carole Ben-Maimon says "It's a neurodegenerative disease that's multisystem and results from a person's inability to make a protein called frataxin which helps the cell generate energy."

Ben-Maimon says early symptoms include loss of coordination and fatigue.

"Often wheelchair-bound in their late teens and early 20s, many of them die from cardiac disease in the fourth and fifth decades," she said.

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Chondrial, based at the Science Center, is working on a treatment.

"We hope we'll be able to deliver this protein to the part of the cell called the mitochondira where they can use it to make more energy and restore the person's ability to generate energy in the cell," said Ben-Maimon.

Another goal, Ben-Maimon says, is to use the same technology to make a difference for those suffering from some of the other thousands of rare mitochondrial diseases.

"It has a huge impact on a lot of people -- not only the people who have the disease, but also their families," she added. "And so we really hope to do some good."

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