The Neuromuscular Disease Foundation (NDF) – the world’s leading nonprofit organization focused on the rare genetic disease called GNE Myopathy (GNEM, also known as HIBM) is pleased to announce its collaboration with PerkinElmer for Whole Genome Sequencing (WGS) paired with metabolomics for analysis of 100 samples, set to begin in January 2018.
“We are hopeful that this WGS project will help us better understand the molecular pathways for this rare genetic muscle disease, and lead to finding effective therapies for GNEM. Ultimately we want any new information to support all our ongoing research initiatives, including gene therapy which is what patients are most excited about,” said Lalé Welsh, NDF’s Executive Director and CEO.
PerkinElmer Genetics’ testing menus include newborn screening, biochemical profiling, 2nd tier molecular confirmatory testing, Sanger and NGS-based panels, and exome and genome sequencing. Its biochemical and molecular screening laboratory will provide NDF with clinical WGS and metabolomics interpretation services and diagnostic report generation for the program.
“Our collaboration with NDF gives hope to the GNEM patients, a disease which currently lacks effective treatments. This is one of the first such known efforts made to understand the etiology of a rare disease at the molecular and biochemical level,” said Dr. Madhuri Hegde, Vice President and Chief Scientific Officer, PerkinElmer Genetics.“We will also collaborate with NDF to create a database with all data points to facilitate patient recruitment for clinical trials. We are excited to collaborate with NDF in their efforts for finding an effective therapeutic strategy for HIBM, which will also in turn shape the future approaches for personalized medicine.”
GNEM is a severe progressive muscle-wasting disease that affects young adults in the prime of life (18-30 yo). The first clinical symptom of GNEM is often “foot drop,” which first interferes with lifting the front part of the foot, and subsequently leads to muscle atrophy in legs and upper extremities. Most patients are wheelchair bound within two decades. HIBM is believed to be due to an enzyme deficiency (GNE/MNK), which renders the body unable to produce normal amounts of sialic acid essential for the proper synthesis of glycosylated proteins and lipids.
NDF’s mission is to enhance the quality of the lives of people living with GNE Myopathy through advocacy, education and funding of basic and clinical research focused on treatments and a cure. There is currently no approved treatment for GNEM patients, but NDF believes that this program will advance learning and lead to a path to a cure.
This is one of the first such known efforts made to understand the etiology of a rare disease at the molecular and biochemical level