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. See below the overview of May 2022.
The problem of delayed diagnosis is not new.@jwmdrc published on this problem in 2014 and I co-authored a consensus document on how to reduce the time to diagnosis for Duchenne in 2019. One of the challenges of diagnosing Duchenne is some have cognitive & behavior problems, & the focus may be on these issues rather than muscle weakness. Another challenge is that while Duchenne is acommon rare diseases, it is still rare & primary carers often are not familiar.
Newborn screening is being discussed & evaluated. The problem is using creatine kinase as a marker not all patients will be picked up (an estimated 6% would be missed) and that patients with other diseases would be picked up for whom no treatment or management is available as an alternative, @duchennepp @TNO_nieuws did a study in the Netherlands showing that based on milestone development, Duchenne could be identified earlier. But this relies on frequent systemic visits to health care services, which happens in the Netherlands, but not everywhere, so more work is to be done to raise awareness with primary healthcare providers to recognized Duchenne patients. To quote @FilippoBuccella 'It is never a good time to hear your son has Duchenne, but earlier means you can be better parents.'
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.