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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Québec, Québec,, Québec
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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:

Klein AF, Varela MA, Arandel L, Holland A, Naouar N, Arzumanov A, Seoane D, Revillod L, Bassez G, Ferry A, Jauvin D, Gourdon G, Puymirat J, Gait MJ, Furling D, Wood MJA

Peptide-conjugated oligonucleotides evoke long-lasting myotonic dystrophy correction in patient-derived cells and mice

Journal Article

J Clin Invest, 129 (11), 2019.

Abstract | Links:

Poulin H, Martineau L, Racine V, Puymirat J, Chahine M

Differentiation of lymphoblastoid-derived iPSCs into functional cardiomyocytes, neurons and myoblasts

Journal Article

Biochem Biophys Res Commun, 516 (1), 2019.

Abstract | Links:

Ashizawa T, Gagnon C, Groh WJ, Gutmann L, Johnson NE, Meola G, Moxley R, Pandya S, Rogers MT, Simpson E, Angeard N, Bassez G, Berggren KN, Bhakta D, Bozzali M, Broderick A, Byrne JLB, Campbell C, Cup E, Day JW, De Mattia E, Duboc D, Duong T, Eichinger K, Ekstrom AB, van Engelen B, Esparis B, Eymard B, Ferschl M, Gadalla SM, Gallais B, Goodglick T, Heatwole C, Hilbert J, Holland V, Kierkegaard M, Koopman WJ, Lane K, Maas D, Mankodi A, Mathews KD, Monckton DG, Moser D, Nazarian S, Nguyen L, Nopoulos P, Petty R, Phetteplace J, Puymirat J, Raman S, Richer L, Roma E, Sampson J, Sansone V, Schoser B, Sterling L, Statland J, Subramony SH, Tian C, Trujillo C, Tomaselli G, Turner C, Venance S, Verma A, White M, Winblad S

Consensus-based care recommendations for adults with myotonic dystrophy type 1

Journal Article

Neurol Clin Pract, 8 (6), 2018.

Abstract | Links:

Hébert LJ, Vial C, Hogrel JY, Puymirat J

Ankle Strength Impairments in Myotonic Dystrophy Type 1: A Five-Year Follow-up

Journal Article

J Neuromuscul Dis, 5 (3), 2018.

Abstract | Links:

Martineau L, Racine V, Benichou SA, Puymirat J

Lymphoblastoids cell lines - Derived iPSC line from a 26-year-old myotonic dystrophy type 1 patient carrying (CTG) expansion in the DMPK gene: CHUQi001-A

Journal Article

Stem Cell Res, 26 , 2018.

Abstract | Links:

Sellier C, Cerro-Herreros E, Blatter M, Freyermuth F, Gaucherot A, Ruffenach F, Sarkar P, Puymirat J, Udd B, Day JW, Meola G, Bassez G, Fujimura H, Takahashi MP, Schoser B, Furling D, Artero R, Allain FHT, Llamusi B, Charlet-Berguerand N

rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences

Journal Article

Nat Commun, 9 (1), 2018.

Abstract | Links:

Wood L, Bassez G, Bleyenheuft C, Campbell C, Cossette L, Jimenez-Moreno AC, Dai Y, Dawkins H, Manera JAD, 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

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, 13 (1), 2018.

Abstract | Links:

Melouane A, Carbonell A, Yoshioka M, Puymirat J, St-Amand J

Implication of SPARC in the modulation of the extracellular matrix and mitochondrial function in muscle cells

Journal Article

PLoS One, 13 (2), 2018.

Abstract | Links:

Wei C, Stock L, Valanejad L, Zalewski ZA, Karns R, Puymirat J, Nelson D, Witte D, Woodgett J, Timchenko NA, Timchenko L

Correction of GSK3β at young age prevents muscle pathology in mice with myotonic dystrophy type 1

Journal Article

FASEB J, 32 (4), 2018.

Abstract | Links:

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Active projects

  • Recherche clinique visant à identifier les facteurs prédicateurs de la réponse au traitement de la migraine par l'Aimovig , from 2020-04-30 to 2025-03-31

Recently finished projects

  • Human iPSC-derived neurons as a model of congenital myotonic dystrophy type 1, from 2021-05-01 to 2023-04-30
  • Phase I/II clinical trial of myoblast transplantation to Duchenne Muscular Dystrophy patients., from 2013-10-01 to 2022-03-31
Data provided by the Université Laval research projects registery