Dr. Hanns Lochmüller Presenting at Can-GARD / CCMG The Leading Strand Webinar Series
Can-GARD/CCMG The Leading Strand Series
NMD4C Lead Investigator Dr. Hanns Lochmüller presenting on Genetic disorders of neuromuscular transmission – congenital myasthenic syndromes
January 29, 2021 12:00pm EST
Register here!
The Leading Strand webinar series is designed for genetics health professionals, led by the Canadian College of Medical Genetics and co-sponsored by Can-GARD. Speakers will be translation-focused researchers, clinicians and innovators. The series will help attendees anticipate, access, and apply new approaches and technologies for patient care.
Genetic disorders of neuromuscular transmission – congenital myasthenic syndromes
Neuromuscular junction disorders are a heterogeneous group of acquired (Myasthenia Gravis, MG) and inherited (Congenital Myasthenic Syndromes, CMS) disorders associated with distinctive clinical, electrophysiological, laboratory and ultrastructural abnormalities. The genetic defects in CMS either impair neuromuscular transmission directly or result in secondary impairments, which eventually compromise the safety margin of neuromuscular transmission. More recently, we have identified two genes (DOK7, GFPT1) that cause fatigable weakness of muscles in a limb-girdle distribution, but rarely affecting facial or eye muscles. Next-generation sequencing and deep phenotyping, in combination with international data sharing, reveals new genetic causes of CMS, but also unusual, overlapping clinical phenotypes which blur the boundaries with primary myopathies and motor neuropathies. This highlights the importance of sharing genomics data for diagnosis and research through a secure platform such as RD-Connect.
Dr. Lochmüller will cover the significant progress made in understanding the molecular pathogenesis of CMS, which is important for both patients and clinicians in terms of reaching a definite diagnosis and selecting the most appropriate treatment.
Read next...
National Training Standards Approved for AFC in Neuromuscular Medicine
We’re pleased to announce that the Royal College of Physicians and Surgeons of Canada has granted final approval for the National Training Standards for the Area of Focused Competence (AFC) in Neuromuscular Medicine!
Expanding National Clinical Outcome Assessment Capacity with Train(e)d
NMD4C and MDC have launched Train(e)d. This initiative is part of NMD4C’s broader efforts to build national capacity in outcome measures and natural history research in support of consistent and high-quality clinical assessments across Canada.
Announcing the 2025 Collaborative Research Training Award Recipients!!!
We are excited to announce the recipients of the 2025 NMD4C Collaborative Research Training Awards which supports Canadian trainees in their efforts to advance neuromuscular disease research while strengthening national collaboration among neuromuscular research laboratories.
NMD4C Hosts 2nd Annual Basic Research Summer School at York University!
The NMD4C is excited to announce a new program for neuromuscular research trainees that will support collaboration opportunities between Canadian research labs.
