Alabama NewsCenter — HudsonAlpha researchers receive Muscular Dystrophy Association grant to refine diagnostic techniques

Connected puzzle pieces with the words genetics and dystrophy, symbolizing the DNA link with the disease.

By HudsonAlpha Institute for Biotechnology

Two faculty investigators at the HudsonAlpha Institute for Biotechnology will use about $290,000 in grant money toward improving the diagnosis of neuromuscular disorders.

Each year, the Muscular Dystrophy Association (MDA) awards grants to some of the world’s best scientists to help accelerate treatments and cures for families living with neuromuscular diseases. Among the grant recipients this year are HudsonAlpha’s Greg Cooper and co-primary investigator Jane Grimwood. They will use the MDA grant money over three years for their project titled “Long-read sequencing to diagnose neuromuscular disorders.”

Cooper and his lab are not strangers to using genome sequencing to diagnose rare diseases. Over the past decade the lab, along with many collaborators, sequenced the genomes of more than 1,790 children with rare diseases. Most of the children were showing signs of neurodevelopmental disorders, with features such as intellectual disability, developmental delay and seizures. However, about 18% also exhibited features of neuromuscular disorders.

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