eDystrophin Database Created to Share BMD Patient Knowledge
April 13, 2013
CureDuchenne, a nonprofit that raises awareness and funds research to find a cure for Duchenne muscular dystrophy, has partnered with Dr. Elisabeth Le Rumeur and Pr Jean-François Hubert, researchers from the Institute of Genetics and Development of Rennes at the University of Rennes 1 in France, to expand the eDystrophin database. The aim of the partnership is to advance our knowledge about dystrophin mutations found in Becker muscular dystrophy (BMD) patients.
eDystrophin is an online database specifically dedicated to providing information about BMD mutations of the DMD gene and the consequences of these alterations from both a clinical and a protein perspective. The database correlates dystrophin structure with clinical outcomes in BMD and will facilitate the understanding of the relationship between the protein and the severity of the disease.
Duchenne is a progressive muscle-wasting disease that impacts one in 3,500 boys. Boys are usually diagnosed by age 5, in a wheelchair by age 12 and most don’t survive their mid-20s. Duchenne, the most common and lethal muscle disease in children, affects 300,000 boys worldwide. Unlike Duchenne, BMD patients display marked differences in their symptoms, ranging from asymptomatic to a more severe disease.
“Only a few studies have been published that examine the relationship between specific mutations and severity of the disease in BMD and the introduction of the eDystrophin database begins to address this,” said Michael Kelly, CureDuchenne Chief Scientific Officer. “One of the main goals of the partnership is to help update and expand the eDystrophin database with new information from patients. The database will be an important resource for helping design future drug development strategies leading to new treatment options.”
The eDystrophin database contains 209 different BMD mutations found in 945 patients. The database is a much needed source of information for Duchenne families and researchers. eDystrophin provides data and graphics of the Duchenne gene; different pathologies and therapies; and is searchable by mutation type (deletions, duplications and substitutions).
“CureDuchenne is a pioneer in funding exon skipping technology,” said Debra Miller, founder and CEO of CureDuchenne. “We are dedicated to helping find a cure for all Duchenne boys and we need to enable drug developers to design the best drugs for the population. eDystrophin can help guide researchers and will be useful for other therapeutic opportunities involving gene therapy and micro-dystrophin.”
Thanks to Karen Harley, Vice President of Marketing and Communications, CureDuchenne.
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