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Monthly #apaperaday wrap-up: January 2023

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 January 2023.

Must reads

  • Clinical potential of microdystrophin as a surrogate endpoint Read more>
  • Assessment of systemic AAV-microdystrophin gene therapy in the GRMD model of Duchenne muscular dystrophy Read more>
  • Biological and genetic therapies for the treatment of Duchenne muscular dystrophy Read more>
  • Racial and ethnic differences in timing of diagnosis and clinical services received in Duchenne Muscular Dystrophy Read more>

Interesting papers

  • Functional and Clinical Outcomes Associated with Steroid Treatment among Non-ambulatory Patients with Duchenne Muscular Dystrophy Read more>
  • Dystrophin myonuclear domain restoration governs treatment efficacy in dystrophic muscle Read more>
  • Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy Read more>
  • Identification of Biallelic dystrophin gene variants during maternal carrier testing for Becker muscular dystrophy and review of the DMD exon 49–51 deletion phenotype Read more>
  • A Longitudinal Follow-Up Study of Intellectual Function in Duchenne Muscular Dystrophy over Age: Is It Really Stable? Read more>
  • Duchenne Muscular Dystrophy in Kazakhstan: A Journey from Diagnosis to the Treatment, the Biases and Achievements Read more>
  • Mechanisms of Myofibre Death in Muscular Dystrophies: The Emergence of the Regulated Forms of Necrosis in Myology Read more>

Additional reading

  • Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events Read more>
  • Targeting gut dysbiosis against inflammation and impaired autophagy in Duchenne muscular dystrophy Read more>
  • The discovery of the DNA methylation episignature for Duchenne muscular dystrophy Read more>
  • What Can RNA-Based Therapy Do for Monogenic Diseases? 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.