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.

training

Read next...

SMA outcome measures training graphic

SMA Outcome Measures Training for Physiotherapists and Occupational Therapists

To support the development and training on validated NMD outcome measures we are pleased to provide opportunities for physiotherapists and occupational therapists to attend training sessions for outcome measures.

Congratulations to the 2024 early career award winners. Dr Mireille Khacho and Dr Jean-Philippe Leduc Gaudet.

Congratulations to the 2024 NMD4C Early Career Awards Recipients

We are excited to announce the recipients of the 2024 NMD4C Early Career Awards! This is the second year of our annual award program, celebrating excellence and contribution to the neuromuscular field from early career investigators across both clinical and basic science streams.

Pediatric Rare Disease Clinical Trials and Treatment Network - RareKids-CAN

MICYRN Secures $20 Million Grant from CIHR for a Pediatric Rare Disease Clinical Trials and Treatment Network

The NMD4C are excited to share that MICYRN’s success in securing a $20 million grant from CIHR Institute of Genetics to support the development and execution of RareKids-CAN: Pediatric Rare Disease Clinical Trials and Treatment Network.

CNDR logo4x3

CNDR Welcomes Dr. Hugh McMillan as New Pediatric Lead

CNDR warmly welcome Dr. Hugh McMillan as the new CNDR Pediatric Lead and are grateful for the wealth of knowledge, expertise, and leadership he will bring to the role.  

NMD4C Hires two new Coordinators - Zainab and Victoria

NMD4C Welcomes Two New Staff Members

The NMD4C recently welcomed two new members to the network coordination team! Marine Christin, PhD joins us as the new Pre-Clinical Science Coordinator, and Maria Masnata, PhD joins as the Clinical Trials & Community Practice Manager. 

Journal of neuromuscular diseases

Journal of Neuromuscular Diseases Celebrates 10-Year Anniversary with Commemorative Editorial

The January 2024 edition of the Journal of Neuromuscular Diseases (JND) marked the journal’s 10-year anniversary!