Hereditary Neuropathy Foundation Announces Major Research Effort

New York, NY — The Hereditary Neuropathy Foundation (HNF) announced today the formation of a Research Consortium (HNF-RC) designed to speed the development of new therapies for Charcot-Marie-Tooth disease (CMT), which affects approximately 1 million US citizens, and is the most common inherited neuromuscular disorder worldwide.

The HNF has made two initial awards, to UC Davis School of Medicine, to develop an improved mouse model to be used in preclinical drug testing, and to the University of Southern California, for the study of potential drug targets for common forms of CMT. These institutions, and others to receive funding from HNF in the future, will adhere to a commitment for real-time sharing of their research findings and facilities to speed the development of effective treatments to prevent or reverse disability caused by CMT. The HNF has named David Pleasure MD, UC Davis, as the first Director of the HNF-RC.

“We are not only thrilled to have UC Davis and the University of Southern California as the charter members of HNF Research Consortium, but also to have Dr. Pleasure as its Director,” said Teresa Eickel, HNF’s Executive Director. Dr. Pleasure echoed Eickel’s enthusiasm. “The intent of the HNF Research Consortium is to focus and unify the efforts of leading scientists to finding a cure for Charcot-Marie-Tooth disease,” he said. “I am really looking forward to working with HNF and the other members of the Consortium to accomplish that goal.” The lead investigator at USC, Dr. Pragna Patel, was also excited to begin research with the HNF Research Consortium. Patel will be doing research on the most common form of CMT, CMT1A and will be working to identify targets for drug discovery. “We are excited that HNF has given us the opportunity to apply new strategies to understand how the PMP22 gene is regulated and to develop a treatment for CMT1A,” she said.

Eickel explained that HNF’s Research Consortium Agreement differs from the traditional research agreement because HNF will have the right to sub-license all CMT-indicated discoveries. Typically, intellectual property management is handled by the participating University. “The right to manage the intellectual property is crucial for any organization funding research on a lesser-known disease, such as CMT,” Eickel stated. “We feel that we are highly motivated to aggressively market the research findings to pharmaceutical companies for research at the clinical level.”

Dr. Elizabeth Fini, the Vice Dean for Research at the Keck School of Medicine and the Interim Director for the USC Institute of Genetics, agreed that this strategy was progressive and goal driven. “This novel strategy for sharing the benefits of research fits well with the Keck School’s focus on rapid dissemination of research knowledge and its translation into clinical practice,” she said. “We are proud to be able to support Dr. Pragna Patel in this effort.” The leadership at UC Davis was also intrigued by HNF’s research strategy. “We are very pleased to be a part of HNF’s innovative approach to Intellectual Property management and information sharing,” said Lars Berglund, Associate Dean for Research at UC Davis Health System and Director of the Clinical and Translational Science Center. “This type of strategy may be the key in uniting the non-profit and pharmaceutical sectors in the search for cures for lesser-known or rare diseases.”

Charcot-Marie-Tooth disease is a neuromuscular disease that causes extreme muscle wasting in the hands, feet, arms, and legs. Besides muscle atrophy, common symptoms include pain, fatigue, deformity, and loss of the mobility. Charcot-Marie-Tooth is genetic, progressive, and has no cure.

The Hereditary Neuropathy Foundation was founded in 2001 by Allison and Robert Moore in order to raise awareness and fund research on Charcot-Marie-Tooth disease. In addition to funding research, HNF also publishes educational publications in order to raise awareness and educate doctors, patients, and the general public about Charcot-Marie-Tooth disease.

UC Davis Health System advances health through patient care, research, education and community service. It includes a top-ranked school of medicine, a 613-bed acute care hospital, the new Betty Irene Moore School of Nursing, an 800-plus member physician’s practice group and many nationally recognized centers and programs, including an NIH-funded Center for Clinical and Translational Research, National Cancer Institute-designated cancer center, the unique M.I.N.D. Institute for the study of neurodevelopmental disorders, a comprehensive children’s hospital, a level 1 trauma center and outpatient clinics in communities throughout the Sacramento region.

The Keck School of Medicine of USC is expanding its biomedical research enterprise and, in so doing, raising its profile as a premier medical school. USC faculty physicians care for patients at two private hospitals, the 411-bed USC University Hospital and the USC Norris Cancer Hospital as well the 600-bed Los Angeles County+USC Medical Center and the 317-bed Childrens Hospital Los Angeles. They also conduct research programs in genetics, cancer, neurogenetics, transplantation medicine, and other key areas, attracting national recognition.

Contact Information

Hereditary Neuropathy Foundation

Teresa Eickel


[email protected]