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Wayne State, U of Miami to Sequence Rare Disease Genes under NIH Grant

NEW YORK (GenomeWeb News) - Wayne State University will use a $6.3 million grant from the National Institutes of Health to lead a five-year consortium focused on studying a genetic nerve disease, WSU said today.

As leader of the Inherited Neuropathies Consortium, WSU will work with the Human Genomic Institute at the University of Miami, which will conduct next-generation sequencing studies seeking modifier genes that could be responsible for Charcot-Marie-Tooth disease.

Using funds from NIH's Rare Diseases Clinical Research Network, WSU seeks to better understand this nervous system disease and to develop new treatments for it, as there are no effective ones so far, WSU said.

CMT, which occurs in around 1 out of 2,500 people, or around 120,000 Americans, causes progressive muscle weakness, deformities of the feet and difficulty walking, as well as muscle atrophy in the hands and difficulty with fine motor skills.

The researchers will establish an RDCR Center, where they plan to identify genes that can be used to determine how severely CMT patients will be affected, and to identify genetic causes of CMT in families in which only a few members have been affected. Another goal is to identify modifier genes in CMT1A, which is the most common form of the disease and is caused by an identical genetic mutation in all patients.

There are around 40 different genes that cause CMT in patients around the world, Michael Shy, a professor of neurology at WSU's School of Medicine, said in a statement.

He said that because it is such a rare disease, "to better understand the different forms of CMT and develop rational treatments for them requires national and international collaborations between neurologists and scientists."

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