Dr. Jack Puymirat M.D., Ph.D., is a neurologist, clinician-scientist at the CHU Research Centre of Quebec, and professor in the Department of Medicine at Laval University. His work focuses on the study of neuromuscular diseases, headaches, as well as the development of a platform for the production of induced pluripotent human stem cells. Recently, his work on stem cell production was featured on Radio-Canada’s Découverte program. He has received several nominations, including the 2006 Researcher of the Year Award from Muscular Dystrophy Canada and the 2011 Hans Steinert Award from international myotonic dystrophy (Steinert’s disease) consortium.

Research on neuromuscular diseases

Steinert myotonic dystrophy is a muscular dystrophy that is 20 times more prevalent in the Saguenay-Lac-Saint-Jean region than anywhere else in the world. In 2000, it was established that the disease was due to the accumulation of mutated RNAs in the cell nucleus. Dr. Puymirat’s research has focused on the development of gene therapy, based on the destruction of toxic RNAs by antisense oligonucleotides. In 2016, his work led to the first Phase 1 clinical trial in the United States. In parallel with his research, Dr. Puymirat and his team have a clinical research program focusing on: 1) The establishment of a provincial registry for this disease to facilitate research and patient participation in clinical trials. 2) The development and validation of protocols for the quantification of muscle strength, the study of muscle imaging and the search for biomarkers of the disease for future clinical trials. 3) The development of genetic tests for various neuromuscular diseases, tests which are now used clinically and offered to the population of Quebec.

The induced pluripotent stem cells production platform (iPSC)

Thanks to the financial support of Brain Canada, Dr. Puymirat and his team have developed a platform for the production of induced pluripotent human stem cells. These cells can be derived from skin, blood, urine and immortalized lymphoblastic cell lines. These cells can differentiate into various cell types, particularly neurons, muscle cells and heart cells. They are used to model neurodegenerative, neuromuscular and psychiatric diseases, screen drugs, and develop cell therapies.

Pharmacogenomics in migraine

This research aims to identify blood molecular markers that are predictive of the response to different drugs used in the treatment of migraine. As a first step, Dr. Puymirat and his team are developing a migraine patient registry, which is essential for genomics studies. This registry contains information on the response to different drugs and will be extended to the CHUM as well as the Montreal Neurological Institute.

 

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De Serres-Bérard T, Ait Benichou S, Jauvin D, Boutjdir M, Puymirat J, Chahine M

Recent Progress and Challenges in the Development of Antisense Therapies for Myotonic Dystrophy Type 1

Journal Article

Int J Mol Sci, 23 (21), 2022.

Abstract | Links:

Ait Benichou S, Jauvin D, De Serres-Bérard T, Bennett F, Rigo F, Gourdon G, Boutjdir M, Chahine M, Puymirat J

Enhanced Delivery of Ligand-Conjugated Antisense Oligonucleotides (C16-HA-ASO) Targeting Dystrophia Myotonica Protein Kinase Transcripts for the Treatment of Myotonic Dystrophy Type 1

Journal Article

Hum Gene Ther, 33 (15-16), 2022.

Abstract | Links:

Laforce RJ, Dallaire-Théroux C, Racine AM, Dent G, Salinas-Valenzuela C, Poulin E, Cayer AM, Bédard-Tremblay D, Rouleau-Bonenfant T, St-Onge F, Schraen-Maschke S, Beauregard JM, Sergeant N, Puymirat J

Tau positron emission tomography, cerebrospinal fluid and plasma biomarkers of neurodegeneration, and neurocognitive testing: an exploratory study of participants with myotonic dystrophy type 1

Journal Article

J Neurol, 269 (7), 2022.

Abstract | Links:

Ait Benichou S, Jauvin D, De Serres-Bérard T, Pierre M, Ling KK, Bennett CF, Rigo F, Gourdon G, Chahine M, Puymirat J

Antisense oligonucleotides as a potential treatment for brain deficits observed in myotonic dystrophy type 1

Journal Article

Gene Ther, 2022.

Abstract | Links:

De Serres-Bérard T, Pierre M, Chahine M, Puymirat J

Deciphering the mechanisms underlying brain alterations and cognitive impairment in congenital myotonic dystrophy

Journal Article

Neurobiol Dis, 160 , 2021.

Abstract | Links:

Poulin H, Mercier A, Djemai M, Pouliot V, Deschenes I, Boutjdir M, Puymirat J, Chahine M

iPSC-derived cardiomyocytes from patients with myotonic dystrophy type 1 have abnormal ion channel functions and slower conduction velocities

Journal Article

Sci Rep, 11 (1), 2021.

Abstract | Links:

Bchetnia M, Martineau L, Racine V, Powell J, McCuaig C, Puymirat J, Laprise C

Generation of a human induced pluripotent stem cell line (UQACi001-A) from a severe epidermolysis bullosa simplex patient with the heterozygous mutation p.R125S in the KRT14 gene

Journal Article

Stem Cell Res, 44 , 2020.

Abstract | Links:

Kurkiewicz A, Cooper A, McIlwaine E, Cumming SA, Adam B, Krahe R, Puymirat J, Schoser B, Timchenko L, Ashizawa T, Thornton CA, Rogers S, McClure JD, Monckton DG

Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trial

Journal Article

PLoS One, 15 (4), 2020.

Abstract | Links:

Wood L, Bassez G, Bleyenheuft C, Campbell C, Cossette L, Jimenez-Moreno AC, Dai Y, Dawkins H, Diaz-Manera J, Dogan C, El Sherif R, Fossati B, Graham C, Hilbert J, Kastreva K, Kimura E, Korngut L, Kostera-Pruszczyk A, Lindberg C, Lindvall B, Luebbe E, Lusakowska A, Mazanec R, Meola G, Orlando L, Takahashi MP, Peric S, Puymirat J, Rakocevic-Stojanovic V, Rodrigues M, Roxburgh R, Schoser B, Segovia S, Shatillo A, Thiele S, Tournev I, van Engelen B, Vohanka S, Lochmuller H

Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

Journal Article

Orphanet J Rare Dis, 14 (1), 2019.

Abstract | Links:

De Antonio M, Dogan C, Daidj F, Eymard B, Puymirat J, Mathieu J, Gagnon C, Katsahian S, , Hamroun D, Bassez G

The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care

Journal Article

Orphanet J Rare Dis, 14 (1), 2019.

Abstract | Links:

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Active projects

  • Human iPSC-derived neurons as a model of congenital myotonic dystrophy type 1, from 2021-05-01 to 2023-04-30
  • Recherche clinique visant à identifier les facteurs prédicateurs de la réponse au traitement de la migraine par l'Aimovig , from 2020-04-30 to 2024-03-31

Recently finished projects

  • Optimizing nickase-induced contraction of CTG repeats in vivo, from 2019-02-15 to 2021-02-28
  • Phase I/II clinical trial of myoblast transplantation to Duchenne Muscular Dystrophy patients., from 2013-10-01 to 2022-03-31
  • Roles of exercise-induced gene, SPARC, against sarcopenia: Link between extracellular matrix and mitochondria., from 2014-04-01 to 2021-03-31
Data provided by the Université Laval research projects registery