April 2021 Newsletter

The April 2021 issue of the NMD4C newsletter is now available!

We give updates from our Expert Patient Capacity Building working group and the Clinical Research Curriculum Development working group including a list of Canadian Neuromuscular Fellowships, a statement in response to high cost drugs for RD, and announce an event in partnership with Jesse's Journey & MDC! Also included are new research from NMD4C participants, and a member spotlight on NMD4C investigator Dr. Hugh McMillan.

View the April 2021 newsletter here.

Sign up for future issues of the NMD4C newsletter here.

Clinical Research Curriculum Development Working Group Update

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Expert Patient Capacity Building Update

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Response to the Federal Government on Building a National Strategy for High-Cost Drugs for Rare Diseases

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New Research from our Members

Targeted genome editing in vivo corrects a Dmd duplication restoring wild-type dystrophin expression.

  • Dr. Eleonora Maino with Dr. Daria Wojtal (Investigator) as a co-author.

Disease monitoring programs of rare genetic diseases: transparent data sharing between academic and commercial stakeholders.

  • Dr. Hanns Lochmüller (Lead Investigator).

Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease.

  • Dr. Serdal Gungor, with Dr. Hanns Lochmüller (Lead Investigator) as a co-author.

Dysregulation of GSK3β-Target Proteins in Skin Fibroblasts of Myotonic Dystrophy Type 1 (DM1) Patients.

  • Dr. Valentina Grande, with Dr. Hanns Lochmüller (Lead Investigator) as a co-author.

POLR3-related leukodystrophy: How do mutations affecting RNA polymerase III subunits cause hypomyelination?

  • Dr. Benoit Coulombe, with Dr. Bernard Brais (Investigator) as a co-author.

Improving Care and Empowering Adults Living with SMA: A Call to Action in the New Treatment Era.

  • Dr. Maggie Walter, with Dr. Maryam Oskoui (Investigator) as a co-author.

Therapeutic interventions for spinal muscular atrophy: preclinical and early clinical development opportunities.

  • Dr. Laurent Servais, with Dr. Maryam Oskoui (Investigator) as a co-author.

Validation of home portable monitoring for the diagnosis of sleep-disordered breathing in adolescents and adults with neuromuscular disorders.

  • Dr. Jean Westenberg with Dr. Maryam Oskoui (Investigator) as a co-author.

Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study.

  • Dr. Stacey Rudnicki, with Dr. Craig Campbell (Investigator) and Dr. Maryam Oskoui (Investigator) as co-authors.

α-tropomyosin gene (TPM3) mutation in an infant with nemaline myopathy

  • Dr. Sulaiman Almobarak, with Dr. Craig Campbell (Investigator) as a co-author.