Monthly #apaperaday wrap-up: July 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 July 2024.
Must reads
- Givinostat: First Approval > Read more
- Disease-associated comorbidities, medication records and anthropometric measures in adults with Duchenne muscular dystrophy > Read more
- Early motor, cognitive, language, behavioural and social emotional development in infants and young boys with Duchenne Muscular Dystrophy- A systematic review > Read more
- Boy Dosed with Pfizer’s Duchenne Muscular Dystrophy Gene Therapy Dies a Year After Phase II Trial > Read more
- Sexual health and fertility in Duchenne muscular dystrophy—An exploratory study > Read more
Interesting papers
- Adenine base editing-mediated exon skipping restores dystrophin in humanized Duchenne mouse model > Read more
- Split intein-mediated protein trans-splicing to express large dystrophins > Read more
- Systemic delivery of full-length dystrophin in Duchenne muscular dystrophy mice > Read more
- Adverse events associated with eteplirsen: A disproportionality analysis using the 2016–2023 FAERS data > Read more
- Tamoxifen may contribute to preserve cardiac function in Duchenne muscular dystrophy > Read more
- Eteplirsen Treatment for Duchenne Muscular Dystrophy: A Qualitative Patient Experience Study > Read more
- How to pay for individualized genetic medicines > Read more
Additional reading
- Levels of Exon-Skipping Are Not Artificially Overestimated Because of the Increased Affinity of Tricyclo-DNA-Modified Antisense Oligonucleotides to the Target DMD Exon > Read more
- Post-transcriptional Regulation of Gene Expression via Unproductive Splicing > Read more
- Deletion of miR-146a enhances therapeutic protein restoration in model of dystrophin exon skipping > Read more
- Targeted Antisense Oligonucleotide-Mediated Skipping of Murine Postn Exon 17 Partially Addresses Fibrosis in D2.mdx Mice > Read more
- Current Classification of Canine Muscular Dystrophies and Identification of New Variants > 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.
