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Cedars-Sinai physician-scientist awarded $3M to study most common inherited neurological disorder
Date:12/14/2012

LOS ANGELES (Dec. 13. 2012) A Cedars-Sinai physician-scientist has been awarded a $3 million grant from the California Institute for Regenerative Medicine to study with new stem cell technology Charcot-Marie-Tooth disease, the most common inherited neurological disorder and which damages nerves that control muscles.

Robert H. Baloh, MD, PhD, director of the Neuromuscular Division of Cedars-Sinai's Department of Neurology and a member of the brain program at the Cedars-Sinai's Regenerative Medicine Institute, will lead the study of the disease, named for the three doctors who first described it in 1886. He and scientists in his Neurodegenerative Diseases Laboratory will employ induced pluripotent stem cells (iPSCs) created at the Regenerative Medicine Institute, which conducts stem cell research and produces stem cells for study at other institutions through its iPSC Core Facility.

Induced pluripotent stem cells have been stepped back, through genetic manipulations to a point where scientists can turn them into any of the body's mature cells, such as brain, blood and bone cells. This allows researchers to study a disease by reproducing it in a Petri dish; if they can learn about and correct its defective genetic makeup, they theoretically could cure the disease.

"Our studies funded by the CIRM grant will be 'preclinical' laboratory research to determine if we can generate personalized stem cell lines for individual patients," said Baloh, an expert in genetic defects and molecular mechanisms that cause neuromuscular and neurodegenerative diseases. "This would mean removing skin cells from a patient with this disease, converting them into induced pluripotent stem cells, genetically correcting them, and then transplanting them back into the patient to we hope restore normal nerve function."

More than 40 gene defects have been found to cause different forms of Charcot-Marie-Tooth disease, which most often damages the "ins
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Contact: Sandy Van
sandy@prpacific.com
808-526-1708
Cedars-Sinai Medical Center
Source:Eurekalert

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