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Monthly #apaperaday wrap-up: October 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 October 2022.

Must reads

  • Cardiac care of children with dystrophinopathy and females carrying DMD-gene variations Read more>
  • The Relation Between Nutritional Intake and Weight in 4-18 Year Old Patients with DMD: What could possibly be done to prevent weight gain? Read more>
  • Patient-led development of digital endpoints and the use of computer vision analysis in assessment of motor function in rare diseases Read more>
  • Newborn screening for Duchenne muscular dystrophy-early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy Read more>
  • A cell-penetrating peptide enhances delivery and efficacy of phosphorodiamidate morpholino oligomers in mdx mice Read more>
  • Siblings’ life aspirations in the context of Duchenne muscular dystrophy: a mixed-methods case-control study Read more>

Interesting papers

  • Engineered skeletal muscle recapitulates human muscle development, regeneration and dystrophy Read more>
  • Gene Therapy for Duchenne Muscular Dystrophy: Unlocking the Opportunities in Countries in the Middle East and Beyond Read more>
  • Mineralocorticoid receptor antagonists and glucocorticoids differentially affect skeletal muscle inflammation and pathology in muscular dystrophy Read more>
  • A first-in-human phase I/IIa gene transfer clinical trial for Duchenne muscular dystrophy using rAAVrh74.MCK. GALGT2 Read more>
  • Exploring the Therapeutic Potential of Ectoine in Duchenne Muscular Dystrophy: Comparison with Taurine, a Supplement with Known Beneficial Effects in the mdx Mouse Read more>
  • Cognitive and behavioral functioning in two neurogenetic disorders; how different are these aspects in Duchenne muscular dystrophy and Neurofibromatosis type 1? Read more>
  • Generation of two induced pluripotent stem cell (iPSC) lines from patients with Duchenne muscular dystrophy (IGIBi006-A and IGIBi008-A) carrying exonic deletions in the dystrophin gene Read more>

Additional reading

  • Exon skipping induces uniform dystrophin rescue with dose-dependent restoration of serum miRNA biomarkers and muscle biophysical properties Read more>
  • RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy. Read more>
  • Semirational bioengineering of AAV vectors with increased potency and specificity for systemic gene therapy of muscle disorders Read more>
  • Perspectives on the advances in the pharmacotherapeutic management of Duchenne muscular dystrophy 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, or subscribe to the WDO Newsletter to receive the monthly must-reads in your inbox.


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.