Conférence scientifique du vendredi midi - Hanns Lochmuller || 12 mai

Inherited disorders of neuromuscular transmission

vendredi 12 mai 2023 de 12:00 à 13:00

CONFÉRENCE SCIENTIFIQUE DE L'AXE Santé musculosquelettique, réadaptation et technologies médicales

Conférencier

• Hanns Lochmuller, MD, FAAN 
  • ​Professeur de neurologie
  • Chaire de recherche du Canada en génomique et santé neuromusculaire
  • CHEO Research Institute | The Ottawa Hospital | Brain and Mind Research Institute | University of Ottawa.

Résumé

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. The number of genetic defects reported as causative of CMS continues to increase, with over 30 genes now implicated. In addition to early-onset severe phenotypes, 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 techniques and deep phenotyping, in combination with international data sharing, have revealed not only new genetic causes of CMS, but also unusual, overlapping clinical phenotypes which blur the boundaries with primary myopathies and motor neuropathies. An increasing number of genes linked to mitochondrial function (SLC25A1, TEFM) have been found to cause both neuromuscular transmission defects as well as more severe childhood mitochondrial diseases. This highlights the importance of sharing genomics data for diagnosis and research through a secure platform such as RD-Connect. We 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.

Date et lieu

Vendredi 12 mai de 12h à 13h

• En présence: Amphithéâtre Albert-Royer
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