Research
Read how they describe their research on their University of Ottawa profile.
Latest papers
Development of a riboflavin-responsive model of riboflavin transporter deficiency in zebrafish.
Human molecular genetics · 2025
Lactobacillus plantarum 299v Prevents Caspase-Dependent Apoptosis In Vitro.
Probiotics and antimicrobial proteins · 2011
Pulse probiotic administration induces repeated small intestinal Muc3 expression in rats.
Pediatric research · 2011
Latest funding
- $1,000,000
NMD4C: the neuromuscular network for Canada
CIHR · 2023 · Co-investigator
- $490,178
Accelerating drug repurposing for rare neurological, neurometabolic and neuromuscular diseases by exploiting SIMilarities in clinical and molecular PATHology (SIMPATHIC)
SSHRC · 2022 · Co-investigator
- $2,754,009
An innovative registry-based trials platform to improve clinical care, outcomes, and health policy for children with treatable rare diseases
CIHR · 2019 · Co-investigator
3 publications.
Development of a riboflavin-responsive model of riboflavin transporter deficiency in zebrafish.
Choueiri CM, Lau J, O'Connor E, DiBattista A, Wong BY, Spendiff S, Horvath R, Pena I, MacKenzie A, Lochmüller H
Lactobacillus plantarum 299v Prevents Caspase-Dependent Apoptosis In Vitro.
Dykstra NS, Hyde L, MacKenzie A, Mack DR
Pulse probiotic administration induces repeated small intestinal Muc3 expression in rats.
Dykstra NS, Hyde L, Adawi D, Kulik D, Ahrne S, Molin G, Jeppsson B, Mackenzie A, Mack DR
NMD4C: the neuromuscular network for Canada
Principal investigators: Lochmüller, Hanns; Osman, Homira; Brais, Bernard; Campbell, Craig Gordon N; Chang, Natasha C; Dowling, James; Gagnon, Cynthia; Gonorazky, Hernan D; Hodgkinson, Victoria; Karamchandani, Jason; Korngut, Lawrence W; Kothary, Rashmi K; Mah, Jean K; O'Connell, Colleen; Patten, Kessen; Rossi, Fabio M; Schellenberg, Kerri; Selby, Kathryn A; Warman Chardon, Jodi
Keywords: Clinical Trial Networks; Networks; Neuromuscular Disease; Open Science; Patient Partnerships; Preclinical Research Resources; Training And Education; Translational Research
Accelerating drug repurposing for rare neurological, neurometabolic and neuromuscular diseases by exploiting SIMilarities in clinical and molecular PATHology (SIMPATHIC)
Principal investigators: Lochmüller, Hanns
Keywords: Neuromuscular Diseases; Drug Repurposing; Clinical Trials; Rare Disease; IPSc; Cellular Models; Drug Screens; Basket Trials
An innovative registry-based trials platform to improve clinical care, outcomes, and health policy for children with treatable rare diseases
Principal investigators: Potter, Elizabeth K; McCabe, Christopher; Smith, Maureen M; Binik, Ariella; Chakraborty, Pranesh K; Inbar-Feigenberg, Michal; Mitchell, John J; Offringa, Martin; Oskoui, Maryam; Stockler, Sylvia
Keywords: Comparative Effectiveness; Core Outcomes; Genetic Disease; Innovative Clinical Trial; Orphan Therapy; Patient Partnership; Patient-Oriented Outcomes; Pediatrics; Rare Disease; Registry-Based Randomized Trial
Pharmacologic and RNAi Screens for Myotonic Dystrophy Type 1 foci modulators; towards Novel DM1 therapeutic approaches
Principal investigators: Mackenzie, Alexander E; Jasmin, Bernard J
Keywords: Cell Phenotype; Drug Screen; Muscular Dystrophy
Recognition and Validation of Druggable Targets from the Response to Cognitive Behaviour Therapy in Myotonic Dystrophy type 1 patients from Integrated -Omics Networks
Principal investigators: Mackenzie, Alexander E
Keywords: Cognitive Behavioural Therapy (Cbt); Myotonic Dystrophy Type 1 (Dm1); Systems Biology
Catalyzing registry-based randomized comparative effectiveness trials for inherited metabolic diseases in children: establishing a core outcome set and data collection tools
Principal investigators: Potter, Elizabeth K; Clifford, Tammy J; Pallone, Nicole; Stockler, Sylvia
Keywords: Inherited Metabolic Disease; Pediatrics; Pragmatic Trial; Rare Disease; Registry; Registry-Based Randomized Trial
Zebrafish models for pyridoxine dependent epilepsy research; drug discovery and pre-clinical validation
Principal investigators: Agostinho Pena, Izabella
Keywords: Genetics; Lysine Degradation; Molecular Biology; Pyridoxine Dependent Epilepsy; Rare Diseases; Zebrafish Models
Enhanced CARE for RARE Genetic Diseases in Canada
Principal investigators: Boycott, Kym M
Keywords: Gene Identification; Health Economics; Molecular Diagnostics; Rare Disease Treatment; Rare Diseases
Preclinical assessment of clinic ready agents for the treatment of muscular dystrophy and spinal muscular atrophy
Principal investigators: Mackenzie, Alexander E
Keywords: Muscular Dystrophy; Neuromuscular Disorders; Pharmacologic Gene Modulation; Preclinical Drug Assessment
Mechanisms of Motoneuron Degeneration in Spinal Muscular Atrophy and Identification of Therapeutic Targets
Principal investigators: Jasmin, Bernard J; Kothary, Rashmi K
Keywords: Neuromuscular Junction - Mouse Models - Signalling -; Proteomics; Rna Stability - Rna Binding Proteins - Microrna -; Spinal Muscular Atrophy - Motoneurons - Skeletal Muscle -
From CIHR, NSERC and SSHRC funding decisions: CIHR since 2008, NSERC since 1991 and SSHRC since 1998, including their latest published competition results.
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Profile data last refreshed on September 25, 2026 from the university directory, publication records and CIHR, NSERC and SSHRC funding.