Annemieke Aartsma-Rus
@oligogirl.bsky.social
Translating science from bench to bedside and from jargon to lay language
#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
#apaperaday Today's pick is hot off the press: the @nejm.org sounding board paper from @fda.gov Prasad et al on the plausible mechanism pathway for individualized base/gene editing treatments for eligible patients. DOI: 10.1056/NEJMsb2512695
November 13, 2025 at 7:41 AM
#apaperaday Today's pick is hot off the press: the @nejm.org sounding board paper from @fda.gov Prasad et al on the plausible mechanism pathway for individualized base/gene editing treatments for eligible patients. DOI: 10.1056/NEJMsb2512695
#apaperaday Today's pick is by Vorontsova et al published in @mdpiopenaccess.bsky.social International Journal of Molecular Sciences, a case report of 3 females with Duchenne muscular dystrophy due to translocations involving the dystrophin gene. DOI: 10.3390/ijms26199389
November 12, 2025 at 9:23 AM
#apaperaday Today's pick is by Vorontsova et al published in @mdpiopenaccess.bsky.social International Journal of Molecular Sciences, a case report of 3 females with Duchenne muscular dystrophy due to translocations involving the dystrophin gene. DOI: 10.3390/ijms26199389
Instead of Klaus the coming weeks I'll be traveling with a mini-glass house to raise awareness for muscle diseases and the special "Glazen Huis" action in December to raise money for children affected by muscle diseases
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#glazenhuisontour | Annemieke Aartsma-Rus
WAKZ glazen mini-huis on tour #GlazenhuisOnTour
Om internationaal aandacht te vragen voor spieren voor spieren en het glazen huis, hebben Yvonne Meijer-Krom en Hermien Kan, Willem Alexander Kinderzie...
www.linkedin.com
November 11, 2025 at 3:52 PM
Instead of Klaus the coming weeks I'll be traveling with a mini-glass house to raise awareness for muscle diseases and the special "Glazen Huis" action in December to raise money for children affected by muscle diseases
www.linkedin.com/posts/annemi...
www.linkedin.com/posts/annemi...
#apaperaday back home. Reunited with Yuzu who is mainly interested in scratches and not confetti making of today's pick in @pnas.org by Cohen et al on the use of synthetic bottlebrush block copolymers to stabilize muscle fiber membranes in a mouse model of Duchenne. Doi 10.1073/pnas.2513599122
November 11, 2025 at 7:06 AM
#apaperaday back home. Reunited with Yuzu who is mainly interested in scratches and not confetti making of today's pick in @pnas.org by Cohen et al on the use of synthetic bottlebrush block copolymers to stabilize muscle fiber membranes in a mouse model of Duchenne. Doi 10.1073/pnas.2513599122
The final TACT themed #apaperaday is about microdystrophin gene therapy again but now with a focus on the immune response that is induced after AAV natural infection or gene therapy infusion. A paper from Saha et al published in Human Gene Therapy doi 10.1177/10430342251385586
November 9, 2025 at 1:03 PM
The final TACT themed #apaperaday is about microdystrophin gene therapy again but now with a focus on the immune response that is induced after AAV natural infection or gene therapy infusion. A paper from Saha et al published in Human Gene Therapy doi 10.1177/10430342251385586
It is clear that Duchenne muscular dystrophy is more than a muscle disease, and other tissues and cells are affected as well, like the brain, but also the neuromuscular junctions (NMJ). At least in mice, exon skipping can improve deficits in the NMJ.
www.sciencedirect.com/science/arti...
www.sciencedirect.com/science/arti...
Antisense-mediated exon skipping therapy improves neuromuscular junction deficits in a Duchenne muscular dystrophy mouse model
Duchenne muscular dystrophy is a muscle wasting disorder caused by lack of dystrophin protein. Dystrophin is present intracellularly at the sarcolemma…
www.sciencedirect.com
November 8, 2025 at 11:45 AM
It is clear that Duchenne muscular dystrophy is more than a muscle disease, and other tissues and cells are affected as well, like the brain, but also the neuromuscular junctions (NMJ). At least in mice, exon skipping can improve deficits in the NMJ.
www.sciencedirect.com/science/arti...
www.sciencedirect.com/science/arti...
#apaperaday Today’s pick featured before as a @biorxivpreprint.bsky.social
but now the full paper is out in Skeletal Muscle, by Hildyard et al on dystrophin expression regulation during muscle repair. Showing off the mouse doctor I received yesterday from TACT. doi10.1186/s13395-025-00398-y
but now the full paper is out in Skeletal Muscle, by Hildyard et al on dystrophin expression regulation during muscle repair. Showing off the mouse doctor I received yesterday from TACT. doi10.1186/s13395-025-00398-y
November 8, 2025 at 11:31 AM
#apaperaday Today’s pick featured before as a @biorxivpreprint.bsky.social
but now the full paper is out in Skeletal Muscle, by Hildyard et al on dystrophin expression regulation during muscle repair. Showing off the mouse doctor I received yesterday from TACT. doi10.1186/s13395-025-00398-y
but now the full paper is out in Skeletal Muscle, by Hildyard et al on dystrophin expression regulation during muscle repair. Showing off the mouse doctor I received yesterday from TACT. doi10.1186/s13395-025-00398-y
#apaperaday again from the TACT meeting in Atlanta, with the WAKZ Glass House on Tour and again about microdystrophin with a pick from Foltz et al from Molecular Therapy methods and clinical development with a head to head comparison of two micro-dystrophins doi 10.1016/j.omtm.2025.101519
November 7, 2025 at 12:13 PM
#apaperaday again from the TACT meeting in Atlanta, with the WAKZ Glass House on Tour and again about microdystrophin with a pick from Foltz et al from Molecular Therapy methods and clinical development with a head to head comparison of two micro-dystrophins doi 10.1016/j.omtm.2025.101519
#apaperaday with delay due to travels to the TREAT-NMD advisory committee for therapeutics meeting in Atlanta. Also taking the WAKZ (children hospital at LUMC) glass house on tour rather than Klaus to commemorate the glazen huis topic of spieren voor spieren in December (Dutch people understand).
November 6, 2025 at 9:02 PM
#apaperaday with delay due to travels to the TREAT-NMD advisory committee for therapeutics meeting in Atlanta. Also taking the WAKZ (children hospital at LUMC) glass house on tour rather than Klaus to commemorate the glazen huis topic of spieren voor spieren in December (Dutch people understand).
There are many good reasons to attend: the speakers, the topic but also the surrounding and the @keystonesymposia.bsky.social concept. Highly recommended
Last chance! ⏰ Submit short talk abstracts or financial aid apps by Nov 5 (11:59pm MST) for the Symposium on Nucleic Acid Therapeutics & Targeted Delivery: keysym.us/KSNATherapy26 #KSNATherapy26
@jenniferdoudna.bsky.social @oligogirl.bsky.social youtu.be/85dvzIiW5oo
@jenniferdoudna.bsky.social @oligogirl.bsky.social youtu.be/85dvzIiW5oo
Nucleic Acid Therapeutics and Targeted Delivery | Keystone Symposia
Join us at the Keystone Symposia on Nucleic Acid Therapeutics and Targeted Delivery, March 2026, in Banff, with field leaders!
keysym.us
November 6, 2025 at 8:57 PM
There are many good reasons to attend: the speakers, the topic but also the surrounding and the @keystonesymposia.bsky.social concept. Highly recommended
#apaperaday Today's pick is a commentary by Kerkhof and Buijsen from Molecular Therapy Nucleic Acids, about a paper by Yameogo et al, who describe a new variant for Friedreich's ataxia and show that antisense oligonucleotides correct normal transcripts. DOI: 10.1016/j.omtn.2025.102723
November 5, 2025 at 7:25 AM
#apaperaday Today's pick is a commentary by Kerkhof and Buijsen from Molecular Therapy Nucleic Acids, about a paper by Yameogo et al, who describe a new variant for Friedreich's ataxia and show that antisense oligonucleotides correct normal transcripts. DOI: 10.1016/j.omtn.2025.102723
#apaperaday Today Yuzu picked a paper blindly from the pile. Turned out to be from @dmmjournal.bsky.social by Braunreiter et al on the characterization of a humanized dystrophin exon 52 deletion model to facilitate developing of mutation specific therapies. Doi 10.1242/dmm.052182
November 4, 2025 at 8:50 AM
#apaperaday Today Yuzu picked a paper blindly from the pile. Turned out to be from @dmmjournal.bsky.social by Braunreiter et al on the characterization of a humanized dystrophin exon 52 deletion model to facilitate developing of mutation specific therapies. Doi 10.1242/dmm.052182
Our paper on the goals and work of the N=1 collaborative for making individualized antisense oligonucleotide therapies (and others) a reality was published in @narresearch.bsky.social 6 months ago. If you missed it: academic.oup.com/nar/article/...
The N=1 Collaborative: advancing customized nucleic acid therapies through collaboration and data sharing
Abstract. Developing customized gene-targeting therapies for the millions of individuals affected by ultra-rare diseases globally requires breaking new gro
academic.oup.com
November 4, 2025 at 7:58 AM
Our paper on the goals and work of the N=1 collaborative for making individualized antisense oligonucleotide therapies (and others) a reality was published in @narresearch.bsky.social 6 months ago. If you missed it: academic.oup.com/nar/article/...
Due to the TREAT-NMD advisory committee of therapeutics meeting that takes place this weekend in Atlanta, we're shifting the #apaperaday week from Tuesday-Sunday. So not paper for your this Monday and next Monday but extras on Saturday and Sunday. Leaving you with a sunset picture
November 3, 2025 at 7:31 AM
Due to the TREAT-NMD advisory committee of therapeutics meeting that takes place this weekend in Atlanta, we're shifting the #apaperaday week from Tuesday-Sunday. So not paper for your this Monday and next Monday but extras on Saturday and Sunday. Leaving you with a sunset picture
#apaperaday Today's pick is again from the @erdera.bsky.social general assembly meeting with the Kobe Animal Kingdom Shoebill decorating a pick from @biorxivpreprint.bsky.social by Ling et al on the NMA oligonucleotide modification that was also mentioned at #OTS2025 doi 10.1101/2025.10.06.680653
October 31, 2025 at 8:15 AM
#apaperaday Today's pick is again from the @erdera.bsky.social general assembly meeting with the Kobe Animal Kingdom Shoebill decorating a pick from @biorxivpreprint.bsky.social by Ling et al on the NMA oligonucleotide modification that was also mentioned at #OTS2025 doi 10.1101/2025.10.06.680653
#apaperaday Today from the @erdera.bsky.social general assembly meeting in Amsterdam. The pick is from Feng at al from @mdpiopenaccess.bsky.social international journal of molecular sciences on using MuSK agonist antibodies in the delta7 model of SMA DOI: 10.3390/ijms22158015
October 30, 2025 at 8:14 AM
#apaperaday Today from the @erdera.bsky.social general assembly meeting in Amsterdam. The pick is from Feng at al from @mdpiopenaccess.bsky.social international journal of molecular sciences on using MuSK agonist antibodies in the delta7 model of SMA DOI: 10.3390/ijms22158015