A unique international contest organized by Boston Children’s Hospital has solved a genetic mystery for the family of a boy diagnosed with centronuclear myopathy (CNM).

Investigators at the University of Michigan in Ann Arbor are conducting a study of the progression of centronuclear myopathies (CNMs), including the type known as myotubular myopathy (MTM); central core disease (CCD) and multiminicore disease. The study is intended to:

John Porter from the National Institutes of Health likes to start talks by noting, “It’s a great time to be a mouse with a neuromuscular disease.” Exciting research results are regularly reported, where a treatment appears to cure one neuromuscular disease or another in a mouse — yet there are few treatments available today for people with any of these diseases, and only a few treatments in human clinical trials. Why does it take so long?

Wherever he went, Scott Crane spread joy.

At the Corner Bakery Café where he worked, he was known for being helpful and kind. When he volunteered for MDA and other organizations, he was always upbeat and enthusiastic. Even during long hospital stays due to respiratory issues, he remained cheerful and positive.

“Spread smiles to everybody everywhere each and every day,” was one of his mantras.

Edison drugs target FA, mitochondrial diseases

When a medical emergency strikes — and the patient is a person with a neuromuscular disease— it’s not just getting to the emergency room quickly that’s critical. It’s also critical to ensure the ER staff understands the patient’s special needs caused by muscle disease.

Antisense oligonucleotides block flawed genetic instructions

Antisense oligonucleotides — also called antisense, oligos, or simply AONs— are pieces of genetic code that keep other genetic code from being processed. Designed to pair up with a particular sequence of DNA or RNA, AONs can change, block or destroy targeted genetic instructions in a variety of ways.