Skip to main content
Premium Trial:

Request an Annual Quote

MDA Funds 'Omics for Neuromuscular Disease Studies

NEW YORK (GenomeWeb News) – As part of a new $13.7 million funding round, the Muscular Dystrophy Association has awarded grants to several research groups that will use genomics and genetics-based science to investigate the molecular causes of neuromuscular diseases.

The new funding will support a total of 40 researchers studying Duchenne muscular dystrophy (DMD), ALS/Lou Gehrig's disease, muscular atrophy, facioscapulohumeral muscular dystrophy, and links between diabetes and Freidreich's ataxia.

The research efforts funded were recommended by MDA's Medical and Scientific Advisory Committees and they include investigators across the US and in Australia, the UK, the Netherlands, Canada, Costa Rica, and Italy. The studies involve a wide range of disciplines and approaches, including a number of projects that will use genomics and proteomics to study the molecular causes of these diseases.

Lisa Baumbach, an associate professor of neurology, pediatrics and biochemistry at The University of Miami's Miller School of Medicine, will receive around $387,000 over three years to search for gene variants involved in causing spinal muscular atrophy beyond the already-known SMN1 gene. The goal is to locate new gene variants that could be used to improve early detection of or treatments for the disease.

Harvard Medical School Professor of Pediatrics Alan Beggs has won a roughly $397,000 grant over three years to study the molecular genetics involved in a number of congenital myopathies. Beggs, who also is director of the Manton Center for Orphan Disease Research at Children's Hospital Boston, is leading research that uses a data registry and sample repository he and his colleagues have created to study neuromuscular diseases such as central core disease, nemaline myopathy, myotubular myopathy, periodic paralysis, and others. Beggs also is screening for genetic mutations linked to congenital myopathies in zebrafish that may be related to human diseases.

University of Western Australia in Perth Associate Professor Kristen Nowak has been awarded a grant of $329,000 over two years to study diseases caused by genetic defects in skeletal muscle caused by the muscle actin gene. The research will have a therapeutic component but also will seek out modifying genes that activate heart actin, or any other genes that modify the severity of neuromuscular diseases.

The University of California Davis' Samantha Harris, an associate professor of neurobiology, physiology, and behavior,r will receive a grant of $244,000 over two years to study the properties of a protein involved in skeletal and muscle development.

And Fernando Morales, head of the genetic section at the Health Research Institute of the University of Costa Rica, will use a roughly $366,000 grant over three years to study the molecular activities involved in type 1 myotonic dystrophy (MMD1 or DM1). Specifically, researchers on the project will analyze MMD1 mutation changes over time and will seek to identify genetic and other modifiers of MMD1 mutation.

The Scan

Study Points to Tuberculosis Protection by Gaucher Disease Mutation

A mutation linked to Gaucher disease in the Ashkenazi Jewish population appears to boost Mycobacterium tuberculosis resistance in a zebrafish model of the lysosomal storage condition, a new PNAS study finds.

SpliceVault Portal Provides Look at RNA Splicing Changes Linked to Genetic Variants

The portal, described in Nature Genetics, houses variant-related messenger RNA splicing insights drawn from RNA sequencing data in nearly 335,700 samples — a set known as the 300K-RNA resource.

Automated Sequencing Pipeline Appears to Allow Rapid SARS-CoV-2 Lineage Detection in Nevada Study

Researchers in the Journal of Molecular Diagnostics describe and assess a Clear Labs Dx automated workflow, sequencing, and bioinformatic analysis method for quickly identifying SARS-CoV-2 lineages.

UK Team Presents Genetic, Epigenetic Sequencing Method

Using enzymatic DNA preparation steps, researchers in Nature Biotechnology develop a strategy for sequencing DNA, along with 5-methylcytosine and 5-hydroxymethylcytosine, on existing sequencers.