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Treating Duchenne Muscular Dystrophy: The Promise of Stem Cells, Artificial Intelligence, and Multi-Omics

Monthly #apaperaday wrap-up: April 2022

Prof. Annemieke Aartsma-Rus is taking on a challenge by reading and commenting on a paper a day. She shares her insights, findings and thoughts via her @oligogirl Twitter account. Each month, a curated selection of the relevant papers for Duchenne and Becker muscular dystrophy are presented by the World Duchenne Organization. See below the overview of April 2022.

Must reads

  • CRISPR editing as a therapeutic strategy for Duchenne muscular dystrophy—anti-Cas9 immune response casts its shadow over safety and efficacy Read more>
  • Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy Read more>
  • Real-world and natural history data for drug evaluation in Duchenne muscular dystrophy: suitability of the North Star Ambulatory Assessment for comparisons with external controls Read more>
  • Martial Arts Training for Boys with Duchenne Muscular Dystrophy Read more>
  • Pfizer Eyes Resuming Phase III Enrollment, Investigates Phase Ib Death Tied to Duchenne Muscular Dystrophy Candidate Read more>

Interesting papers

  • A Long-Term Study Evaluating the Effects of Nicorandil Treatment on Duchenne Muscular Dystrophy-Associated Cardiomyopathy in mdx Mice Read more>
  • Cardiorespiratory management of Duchenne muscular dystrophy: emerging therapies, neuromuscular genetics, and new clinical challenges Read more>
  • Treating Duchenne Muscular Dystrophy: The Promise of Stem Cells, Artificial Intelligence, and Multi-Omics Read more>
  • Cardio-respiratory and phenotypic rescue of dystrophin/utrophin-deficient mice by combination therapy Read more>
  • Measuring carer quality of life in Duchenne muscular dystrophy: a systematic review of the reliability and validity of self-report instruments using COSMIN Read more>
  • Quantitative magnetic resonance imaging measures as biomarkers of disease progression in boys with Duchenne muscular dystrophy: a phase 2 trial of domagrozumab Read more>
  • Muscle histological changes in a large cohort of patients affected with Becker muscular dystrophy Read more>
  • CD38-NADase is a new major contributor to Duchenne muscular dystrophic phenotype Read more>
  • Development of a novel startle response task in Duchenne muscular dystrophy Read more>
  • Cognition of the mothers of patients with Duchenne muscular dystrophy Read more>

Additional reading

  • Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy Read more>
  • Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases Read more>
  • Human pluripotent stem cell-derived myogenic progenitors undergo maturation to quiescent satellite cells upon engraftment Read more>
  • Preserved Left Ventricular Function despite Myocardial Fibrosis and Myopathy in the Dystrophin-Deficient D2.B10-Dmdmdx/J Mouse Read more>
  • Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy Read more>
  • Simvastatin and Muscle: Zebrafish and Chicken Show that the Benefits are not Worth the Damage Read more>

We are grateful for prof. Aartsma-Rus for allowing us to share her daily recaps. Follow @oligogirl on Twitter to stay on top of the latest #apaperaday tweets.


About professor Annemieke Aartsma-Rus

Prof. Dr. Annemieke Aartsma-Rus is a professor of Translational Genetics at the Department of Human Genetics of the Leiden University Medical Center. Since 2013 she has a visiting professorship at the Institute of Genetic Medicine of Newcastle University (UK).

Her work currently focuses on developing antisense-mediated exon skipping as a therapy for Duchenne muscular dystrophy. In addition, in collaborative efforts she aims to bridge the gap between different stakeholders (patients, academics, regulators and industry) involved in drug development for rare diseases.

In 2013 she was elected a member of the junior section of the Dutch Royal Academy of Sciences (KNAW), which consists of what are considered the top 50 scientists in the Netherlands under 45. From 2015 to 2022, she was selected as the most influential scientist in Duchenne muscular dystrophy by Expertscape.