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UI-led rare disease consortium receives $7.2 million grant

Date: Tuesday, October 8, 2019

The Inherited Neuropathy Consortium (INC) led by University of Iowa neurologist Michael Shy, MD, has received a five-year, almost $7.2 million grant renewal from the National Institutes of Health to continue conducting clinical research on different forms of inherited peripheral neuropathies and improving the care of patients.

The INC is part of the Rare Diseases Clinical Research Network (RDCRN), a group of 20 teams of scientists, clinicians, patients, families, and patient advocates that study a wide range of rare diseases. The RDCRN is supported by multiple NIH Institutes and Centers and led by NIH’s National Center for Advancing Translational Sciences (NCATS) and the NCATS Office of Rare Diseases Research. The RDCRN grants aim to foster collaborative research among scientists to better understand how rare diseases progress and to develop improved approaches for diagnosis and treatment.

Individually, most rare diseases affect only a few hundred to several thousand people, but taken together, rare diseases affect more than 25 million Americans. Shy’s team focuses on inherited peripheral neuropathies, which are collectively referred to as Charcot-Marie-Tooth disease (CMT). About one in 2,500 people have this slowly progressive condition that damages parts of the peripheral nerve over time. Typically, CMT first affects lower legs and feet leading to weakness and numbness and sometimes changes in the shape of the foot. As the condition progresses, weakness and numbness can also occur in the forearms and hands. CMT is caused by mutations in more than 70 genes.

“The grant’s funding means that Iowa will remain at the forefront of research in the field of inherited peripheral neuropathies,” says Shy, UI professor of neurology and director of the CMT Clinic at University of Iowa Hospitals & Clinics. “We will continue to pioneer natural history studies and develop clinical and biomarker outcome instruments for patients with multiple genetic forms of inherited peripheral neuropathies. We will also be able to continue our efforts to identify novel genetic causes of CMT and continue to train the next generation of young investigators in our field.”

In addition to seeking new and better treatments for patients with inherited neuropathies, the consortium also provides up-to-date information to help patients manage their diseases and assists in connecting patients with support groups, expert doctors, and clinical research opportunities.

The grant is the second competitive renewal for the INC, which will support consortium through 15 years as a member of the RDCRN. In addition to the UI, INC study sites include Wayne State University, University of Pennsylvania, Children's Hospital of Philadelphia, University of Rochester, National Hospital of Neurology and Neurosurgery in London, UK, and Dubowitz Neuromuscular Centre in London, UK. 

For more information on all of the RDCRN grants awarded, visit their website.