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Monthly #apaperaday wrap-up: August 2024

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 August 2024.

Must reads

  • The Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data > Read more
  • Clinician Perspectives of Gene Therapy as a Treatment Option for Duchenne Muscular Dystrophy > Read more
  • “If you cannot measure it, you cannot improve it”. Outcome measures in Duchenne Muscular Dystrophy: current and future perspectives > Read more

Interesting papers

  • Skeletal muscle-on-a-chip in microgravity as a platform for regeneration modeling and drug screening > Read more

Additional reading

  • Tailored antisense oligonucleotides designed to correct aberrant splicing reveal actionable groups of mutations for rare genetic disorders > 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.