Neuromuscular Disease Foundation (NDF) Launches Whole Genome Sequencing Research for Rare Muscle Disease

Neuromuscular Disease Foundation committed to finding treatments and a cure for GNE myopathy

This is one of the first such known efforts made to understand the etiology of a rare disease at the molecular and biochemical level

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…

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