Annemieke Aartsma-Rus
@oligogirl.bsky.social
Translating science from bench to bedside and from jargon to lay language
#apaperaday A Duchenne themed pick to commemorate Duchenne Patient Academy meeting happening tomorrow. The pick is on the experience of parents who receive a false positive result in newborn screening analysis for Duchenne, by Tzeng et al from Journal of Genetic Counseling. Doi 10.1002/jgc4.70141
December 12, 2025 at 6:43 AM
#apaperaday A Duchenne themed pick to commemorate Duchenne Patient Academy meeting happening tomorrow. The pick is on the experience of parents who receive a false positive result in newborn screening analysis for Duchenne, by Tzeng et al from Journal of Genetic Counseling. Doi 10.1002/jgc4.70141
#apaperaday Today’s splicing themed pick again commemorating today's Heinrich Wieland Symposium in Munich. The pick is from Scientific Reports by Hashikami et al on exon skipping on the Col4a5 gene to bypass a nonsense variant in a mouse model for Alport syndrome. Doi 10.1038/s41598-025-25447-w.
December 11, 2025 at 7:46 AM
#apaperaday Today’s splicing themed pick again commemorating today's Heinrich Wieland Symposium in Munich. The pick is from Scientific Reports by Hashikami et al on exon skipping on the Col4a5 gene to bypass a nonsense variant in a mouse model for Alport syndrome. Doi 10.1038/s41598-025-25447-w.
#apaperaday Today & tomorrow is splice modulation themed to commemorate the Heinrich Wieland Prize Symposium happening tomorrow (Adrian Krainer will win, hence the theme). We kick off with a @biorxivpreprint.bsky.social by Dame et al on splice modulation for epilepsy. doi: 10.1101/2025.10.22.683934
December 10, 2025 at 7:51 AM
#apaperaday Today & tomorrow is splice modulation themed to commemorate the Heinrich Wieland Prize Symposium happening tomorrow (Adrian Krainer will win, hence the theme). We kick off with a @biorxivpreprint.bsky.social by Dame et al on splice modulation for epilepsy. doi: 10.1101/2025.10.22.683934
#apaperaday Today a pick from @journalnd.bsky.social by Benchetrit et al with a systematic analysis of paediatric investigational plans (PIPs) for Duchenne therapies as submitted to the Paediatric Committee (PDCO) of the EMA. doi: 10.1177/22143602251397736
December 9, 2025 at 7:57 AM
#apaperaday Today a pick from @journalnd.bsky.social by Benchetrit et al with a systematic analysis of paediatric investigational plans (PIPs) for Duchenne therapies as submitted to the Paediatric Committee (PDCO) of the EMA. doi: 10.1177/22143602251397736
#apaperaday Today's pick is from Gene Therapy by Fawzi Osman et al on real world experience with Elevidys in a series of 8 Duchenne patients in Qatar. DOI: 10.1038/s41434-025-00580-3
December 8, 2025 at 12:25 PM
#apaperaday Today's pick is from Gene Therapy by Fawzi Osman et al on real world experience with Elevidys in a series of 8 Duchenne patients in Qatar. DOI: 10.1038/s41434-025-00580-3
#apaperaday on imaging today as this was discussed yesterday at the @euronmd.bsky.social TREAT-NMD translational summer school by @kanhermien.bsky.social Today's pick a systematic review is from @journalnd.bsky.social by Todd et al DOI: 10.1177/22143602251360664
December 5, 2025 at 11:19 AM
#apaperaday on imaging today as this was discussed yesterday at the @euronmd.bsky.social TREAT-NMD translational summer school by @kanhermien.bsky.social Today's pick a systematic review is from @journalnd.bsky.social by Todd et al DOI: 10.1177/22143602251360664
The last 18 months Shin'ichi Takeda and I have been working as guest editors for a special issue on RNA therapeutics for @journalnd.bsky.social The issue is now complete. For a summary/teaser, read our editorial. pubmed.ncbi.nlm.nih.gov/41342671/
RNA therapies are delivering as therapies for neuromuscular dystrophy patients: Editorial for the special issue on RNA therapies in Journal of Neuromuscular Diseases - PubMed
RNA therapies are delivering as therapies for neuromuscular dystrophy patients: Editorial for the special issue on RNA therapies in Journal of Neuromuscular Diseases
pubmed.ncbi.nlm.nih.gov
December 5, 2025 at 11:15 AM
The last 18 months Shin'ichi Takeda and I have been working as guest editors for a special issue on RNA therapeutics for @journalnd.bsky.social The issue is now complete. For a summary/teaser, read our editorial. pubmed.ncbi.nlm.nih.gov/41342671/
Earlier this year @worldduchenne.bsky.social organized a Drug Development Round Table Meeting to discuss challenges affecting Duchenne therapy development. A meeting report is now published in @journalnd.bsky.social pubmed.ncbi.nlm.nih.gov/41342650/
Report of the multistakeholder drug development round table meeting of the World Duchenne Organization focusing on challenges for clinical development of therapies - PubMed
Duchenne muscular dystrophy (DMD) is a muscle wasting disease where patients lose muscle tissue and function. The disease is caused by pathogenic variants that abolish the production of functional dystrophin protein. There are many therapeutic approaches in clinical development for DMD patients, but …
pubmed.ncbi.nlm.nih.gov
December 5, 2025 at 11:11 AM
Earlier this year @worldduchenne.bsky.social organized a Drug Development Round Table Meeting to discuss challenges affecting Duchenne therapy development. A meeting report is now published in @journalnd.bsky.social pubmed.ncbi.nlm.nih.gov/41342650/
#apaperaday Not every day this week as the @euronmd.bsky.social TREAT-NMD translational summerschool is ongoing. A pick from Biomedicine and Pharmacotherapy by Muntuano et al on the treatment effects of a growth hormone secretagogue in a Duchenne mouse mouse model. doi: 10.1016/j.biopha.2025.118767
December 4, 2025 at 8:45 AM
#apaperaday Not every day this week as the @euronmd.bsky.social TREAT-NMD translational summerschool is ongoing. A pick from Biomedicine and Pharmacotherapy by Muntuano et al on the treatment effects of a growth hormone secretagogue in a Duchenne mouse mouse model. doi: 10.1016/j.biopha.2025.118767
#apaperaday Today's pick is by Kumai et al on an individual who turned out to have Becker muscular dystrophy but who was diagnosed because he developed rhabdomyolysis due to anesthesia. Published in Internal Medicine. Very nice example of a good case report! DOI: 10.2169/internalmedicine.5972-25
December 1, 2025 at 7:52 AM
#apaperaday Today's pick is by Kumai et al on an individual who turned out to have Becker muscular dystrophy but who was diagnosed because he developed rhabdomyolysis due to anesthesia. Published in Internal Medicine. Very nice example of a good case report! DOI: 10.2169/internalmedicine.5972-25
#apaperaday Please note that next week it will be #afewpaperaweek because of a busy schedule with the @euronmd.bsky.social TREAT-NMD translational training school happening in Leiden. Yours truly will be teaching, chairing sessions and leading working groups.
November 28, 2025 at 8:51 AM
#apaperaday Please note that next week it will be #afewpaperaweek because of a busy schedule with the @euronmd.bsky.social TREAT-NMD translational training school happening in Leiden. Yours truly will be teaching, chairing sessions and leading working groups.
#apaperaday Unexpectedly working from home, so an older pick from the 'from home' pile by Young Jeon et al on EZH2 inhibition in Duchenne models published in Science Advances. NB: the title hides that the authors also so single cell sequencing and spatial transcriptomics DOI: 10.1126/sciadv.adr4443
November 28, 2025 at 7:53 AM
#apaperaday Unexpectedly working from home, so an older pick from the 'from home' pile by Young Jeon et al on EZH2 inhibition in Duchenne models published in Science Advances. NB: the title hides that the authors also so single cell sequencing and spatial transcriptomics DOI: 10.1126/sciadv.adr4443
#apaperaday Today one of my favorite types of papers, i.e. a strange pathogenic variant in the dystrophin gene, where one would expect Duchenne, but sees Becker and there is a genetic explanation, by Naruse et al in Annals Neurology DOI: 10.1002/ana.78096
November 27, 2025 at 10:39 AM
#apaperaday Today one of my favorite types of papers, i.e. a strange pathogenic variant in the dystrophin gene, where one would expect Duchenne, but sees Becker and there is a genetic explanation, by Naruse et al in Annals Neurology DOI: 10.1002/ana.78096
#apaperaday Today's pick is by Martinez-Pizarro et al published in @narjournal.bsky.social Molecular Medicine, using antisense oligonucleotides (ASO) to increase inclusion of a microexon in the CPEB4 gene. Interesting because exon inclusion is more difficult than skipping DOI: 10.1093/narmme/ugaf035
November 26, 2025 at 8:21 AM
#apaperaday Today's pick is by Martinez-Pizarro et al published in @narjournal.bsky.social Molecular Medicine, using antisense oligonucleotides (ASO) to increase inclusion of a microexon in the CPEB4 gene. Interesting because exon inclusion is more difficult than skipping DOI: 10.1093/narmme/ugaf035
#apaperaday Today's pick is by Ashwini Balchandran et al on using delivery conjugates for antisense oligonucleotides (ASO) to deliver them to cancer cells, published in RSC (royal society of chemistry) advances. DOI: 10.1039/d5ra05904f
November 25, 2025 at 8:49 AM
#apaperaday Today's pick is by Ashwini Balchandran et al on using delivery conjugates for antisense oligonucleotides (ASO) to deliver them to cancer cells, published in RSC (royal society of chemistry) advances. DOI: 10.1039/d5ra05904f
#apaperaday Today's pick is an older paper by Silva-Santos et al in @jci.org from 2015 about a systematic analysis in mice to assess when starting expression of Ube3a, which is lacking in Angelman syndrome, a neurodevelopmental disease, still has impact on which aspects. DOI: 10.1172/JCI80554
November 24, 2025 at 9:03 AM
#apaperaday Today's pick is an older paper by Silva-Santos et al in @jci.org from 2015 about a systematic analysis in mice to assess when starting expression of Ube3a, which is lacking in Angelman syndrome, a neurodevelopmental disease, still has impact on which aspects. DOI: 10.1172/JCI80554
#apaperaday Today's pick is from @natcomms.nature.com by Esper et al on the consequences of lack of dystrophin during mouse embryogenic muscle formation. Yuzu was not interested in the paper and preferred playing. DOI: 10.1038/s41467-025-64999-3
November 21, 2025 at 9:12 AM
#apaperaday Today's pick is from @natcomms.nature.com by Esper et al on the consequences of lack of dystrophin during mouse embryogenic muscle formation. Yuzu was not interested in the paper and preferred playing. DOI: 10.1038/s41467-025-64999-3
#apaperaday Today a case report by Gutierrez-Baena et al in Internal and emergency medicine, on a Duchenne patient with euglycemic ketoacidosis due to dapaglifozin (a medicine that prevents glucose reabsorption by the kidney, a treatment for diabetes & heart failure). DOI: 10.1007/s11739-025-04058-3
November 20, 2025 at 7:37 AM
#apaperaday Today a case report by Gutierrez-Baena et al in Internal and emergency medicine, on a Duchenne patient with euglycemic ketoacidosis due to dapaglifozin (a medicine that prevents glucose reabsorption by the kidney, a treatment for diabetes & heart failure). DOI: 10.1007/s11739-025-04058-3
#apaperaday Today's pick is a commentary by Ahrens-Nicklas and Musunuru in @ajhgnews.bsky.social to the plausible mechanism publication in NEJM featured recently. The authors were involved in the individualized base editing therapy development (earlier #apaperaday). DOI: 10.1016/j.ajhg.2025.10.006
November 19, 2025 at 8:36 AM
#apaperaday Today's pick is a commentary by Ahrens-Nicklas and Musunuru in @ajhgnews.bsky.social to the plausible mechanism publication in NEJM featured recently. The authors were involved in the individualized base editing therapy development (earlier #apaperaday). DOI: 10.1016/j.ajhg.2025.10.006
#apaperaday Hot from the press, the @natcomms.nature.com paper by Mathews et al on the relationship between Htt expression and somatic instability in Huntington's disease mouse models. Partly presented already at conferences, but now the full story. DOI: 10.1038/s41467-025-64936-4
November 18, 2025 at 7:47 AM
#apaperaday Hot from the press, the @natcomms.nature.com paper by Mathews et al on the relationship between Htt expression and somatic instability in Huntington's disease mouse models. Partly presented already at conferences, but now the full story. DOI: 10.1038/s41467-025-64936-4
#apaperaday Today's pick is from @narjournal.bsky.social by Stratton et al on testing antisense oligonucleotides (ASOs) for exon 5 skipping in a pig model for CLN3 Batten disease. Obviously my office pigs had to feature. DOI: 10.1093/nar/gkaf1141
November 17, 2025 at 9:16 AM
#apaperaday Today's pick is from @narjournal.bsky.social by Stratton et al on testing antisense oligonucleotides (ASOs) for exon 5 skipping in a pig model for CLN3 Batten disease. Obviously my office pigs had to feature. DOI: 10.1093/nar/gkaf1141
November 17, 2025 at 8:56 AM
#apaperaday Today's pick is from @narjournal.bsky.social by Stratton et al on testing antisense oligonucleotides (ASOs) for exon 5 skipping in a pig model for CLN3 Batten disease. Obviously my office pigs had to feature. DOI: 10.1093/nar/gkaf1141
#apaperaday Action Duchenne special from Hinckley Island with a pick from Jurlina et al from journal of genetic counseling on how prenatal genetic counselors discuss treatment options with females at risk of having sons with Duchenne. doi: 10.1002/jgc4.70127
November 15, 2025 at 9:42 AM
#apaperaday Action Duchenne special from Hinckley Island with a pick from Jurlina et al from journal of genetic counseling on how prenatal genetic counselors discuss treatment options with females at risk of having sons with Duchenne. doi: 10.1002/jgc4.70127
#apaperaday Today & tomorrow there will be a DMD themed series to commemorate the Action Duchenne conference that takes place. The glass house is with me, but also got acquainted with some of my office pets. Today's pick is on caregiver perception of Elevidys effects. doi: 10.1007/s40120-025-00842-7
November 14, 2025 at 9:28 AM
#apaperaday Today & tomorrow there will be a DMD themed series to commemorate the Action Duchenne conference that takes place. The glass house is with me, but also got acquainted with some of my office pets. Today's pick is on caregiver perception of Elevidys effects. doi: 10.1007/s40120-025-00842-7