Monthly #apaperaday wrap-up: May 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 May 2024.
Must reads
- Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy > Read more
- Respiratory comorbidities and treatments in Duchenne MD: impact on life expectancy and causes of death > Read more
- Development and Pilot Validation of the DuMAND Checklist to Screen for Duchenne Muscular Dystrophy-Associated Neurobehavioral Difficulties (DuMAND) > Read more
Interesting papers
- Long-term clinical follow-up of a family with Becker muscular dystrophy associated with a large deletion in the DMD gene > Read more
- Genetic counseling for the dystrophinopathies—Practice resource of the National Society of Genetic Counselors > Read more
- Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis > Read more
Additional reading
- Treatment with ataluren in four symptomatic Duchenne carriers. A pilot study > Read more
- Discordant Monozygotic Triplets with Duchenne Muscular Dystrophy > Read more
- A rare complex structural variant of novel intragenic inversion combined with reciprocal translocation t(X;1)(p21.2;p13.3) in 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.
