Myotonic dystrophy type 1: from DNA repeat expansion and toxic RNA to the development of new therapeutic approaches.

7 July 2022

Delivered by Mario Gomes-Pereira & Arnaud Klein (Myology Research Centre, Inserm, Sorbonne University, Institute of Myology, Paris) on the 07 July 2022 at 16:00 Paris Time

 

 

Mario Gomes-Pereira has been working on myotonic dystrophy type 1 (DM1) and related trinucleotide repeat expansion disorders for more than 20 years. Mario studied Biochemistry at the University of Porto (Portugal), where he debuted his research career investigating transthyretin variants associated with familial amyloidotic polyneuropathies. He obtained his PhD from the University of Glasgow (United Kingdom), where he studied the molecular mechanisms of trinucleotide repeat expansion in human disease. Today, Mario Gomes-Pereira conducts his research in the Myologie Research Centre (Inserm, Sorbonne University, Paris), a renowned institution of international recognition in the field of neuromuscular diseases. In this large research centre, he integrates the laboratory “Repeat Expansions and Myotonic Dystrophies” headed by D. Furling, and G. Gourdon. The team combines unique scientific and clinical expertise, in a synergistic effort to promote translational research, from the study of upstream genetic events to downstream pathophysiological consequences, and ultimately to the development of new therapeutic tools. In this multi-layered team, M. Gomes-Pereira leads the “CNS dysfunction in DM1” that focuses on the molecular and cellular mechanisms of neurological damage in DM1, and which he has established and managed for 15 years. His pioneering work provided key conceptual advances on the implication of synaptic protein dysfunction, and glial cells in DM1 brain disease. He has authored more than 25 papers, filed two patent applications, and participated in more than 10 national and international collaborations with academic and industrial partners.

 

Arnaud Klein has been working on myotonic dystrophy type 1 (DM1) and more generally on repeat expansion diseases for nearly 20 years. Arnaud obtained his PhD in Molecular Biology at the Université de Montréal (Québec, Canada). He worked under the supervision of Dr Bernard Brais to understand the pathological mechanisms leading to the Oculopharyngeal Muscular Dystrophy (OPMD), a disease characterized by a late-onset muscular dystrophy, a triplet expansion mutation in a ubiquitous gene and the formation of intranuclear aggregates. Back in France, he joined Denis Furling’s team as a post-doc and worked on DM1, another triplet expansion disease with intranuclear aggregates. Now, Arnaud is a researcher in the team “Repeated expansions and myotonic dystrophies” led by D. Furling, and G. Gourdon within the Centre de Recherche en Myologie (Sorbonne University, Inserm UMRS974, Institute of Myology, Paris). The team combines a unique scientific and clinical expertise, in a synergistic effort to promote translational research, from the study of upstream genetic events to downstream pathophysiological consequences, and ultimately to the development of new therapeutic tools. In this team, Arnaud was able to develop innovative therapeutic approaches for Myotonic Dystrophy type 1, notably using antisense oligonucleotides, and to participate in the development of several DM1 models. His work and expertise have enabled him to publish more than 20 articles on DM1 and muscle diseases, to file a patent and to participate in several national and international collaborations with academic and industrial partners.

 

 

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