Annemieke Aartsma-Rus
@oligogirl.bsky.social
Translating science from bench to bedside and from jargon to lay language
#apaperaday Today's pick is a collaborative study of Sarepta and Academics to assess the effect of peptide conjugated PMOs (PPMOs) on the respiratory function of the mdx Duchenne mouse model by Biswas et al in @moltherapy.bsky.social Nucleic Acids. DOI: 10.1016/j.omtn.2025.102810
February 9, 2026 at 7:39 AM
#apaperaday Today's pick is a collaborative study of Sarepta and Academics to assess the effect of peptide conjugated PMOs (PPMOs) on the respiratory function of the mdx Duchenne mouse model by Biswas et al in @moltherapy.bsky.social Nucleic Acids. DOI: 10.1016/j.omtn.2025.102810
#apaperaday Duchenne UK conference themed, with a pick from Kukulka et al in pediatric neurologcy on ethical considerations related to the increasing life expectancy of Duchenne patients in an evolving landscape of treatment options. DOI 10.1016/j.pediatrneurol.2025.11.020 Klaus was daunted by LHR
February 7, 2026 at 7:47 AM
#apaperaday Duchenne UK conference themed, with a pick from Kukulka et al in pediatric neurologcy on ethical considerations related to the increasing life expectancy of Duchenne patients in an evolving landscape of treatment options. DOI 10.1016/j.pediatrneurol.2025.11.020 Klaus was daunted by LHR
#apaperaday Today and tomorrow will be Duchenne themed due to the Duchenne UK New Horizons conference taking place in London (Yuzu wants to come too). Today's pick is by Rosenthal et al in Pediatric transplantation on advanced cardiac therapy in Duchenne. doi: 10.1016/j.nmd.2026.106338.
February 6, 2026 at 7:37 AM
#apaperaday Today and tomorrow will be Duchenne themed due to the Duchenne UK New Horizons conference taking place in London (Yuzu wants to come too). Today's pick is by Rosenthal et al in Pediatric transplantation on advanced cardiac therapy in Duchenne. doi: 10.1016/j.nmd.2026.106338.
No #apaperaday tomorrow as I will teach at a primary school! This is part of the 'meet the professor' event @iclon.bsky.social organizes every year for the @unileiden.bsky.social dies natalis (february 7, but celebrated on February 9). My teaching is early due to the TREAT-NMD conference next week.
a group of penguins wearing blue shirts with the word penguins on them
ALT: a group of penguins wearing blue shirts with the word penguins on them
media.tenor.com
February 4, 2026 at 8:56 AM
No #apaperaday tomorrow as I will teach at a primary school! This is part of the 'meet the professor' event @iclon.bsky.social organizes every year for the @unileiden.bsky.social dies natalis (february 7, but celebrated on February 9). My teaching is early due to the TREAT-NMD conference next week.
#apaperaday Forced to work from home due to a lack of trains (to Yuzu's delight). The pick is from @narjournal.bsky.social molecular insights by Ottesen et al on a study of off target effects of a MOE/PS ASO (the title does not mention the name, but it is nusinersen). doi: 10.1093/narmme/ugag002
February 4, 2026 at 7:18 AM
#apaperaday Forced to work from home due to a lack of trains (to Yuzu's delight). The pick is from @narjournal.bsky.social molecular insights by Ottesen et al on a study of off target effects of a MOE/PS ASO (the title does not mention the name, but it is nusinersen). doi: 10.1093/narmme/ugag002
#apaperaday is a publication in @naturemedicine.bsky.social on the rugonersen antisensense oligonucleotide (ASO) clinical trial in Angelman Syndrome that was published last year by Hipp et al and which I somehow missed DOI: 10.1038/s41591-025-03784-7
January 30, 2026 at 8:28 AM
#apaperaday is a publication in @naturemedicine.bsky.social on the rugonersen antisensense oligonucleotide (ASO) clinical trial in Angelman Syndrome that was published last year by Hipp et al and which I somehow missed DOI: 10.1038/s41591-025-03784-7
#apaperaday heads up: Next week there will be NO #apaperaday on Monday and Tuesday due to a 1M1M meeting with a very early morning start. However, there will be a Duchenne UK special on Friday and Saturday. The week after from Tuesday-Friday there will be the TREAT-NMD conference special. Stay tuned
a cartoon character is holding a stack of paper
ALT: a cartoon character is holding a stack of paper
media.tenor.com
January 29, 2026 at 10:36 AM
#apaperaday heads up: Next week there will be NO #apaperaday on Monday and Tuesday due to a 1M1M meeting with a very early morning start. However, there will be a Duchenne UK special on Friday and Saturday. The week after from Tuesday-Friday there will be the TREAT-NMD conference special. Stay tuned
#apaperaday Today's pick is from Journal of Cystic Fibrosis by Stanleigh et al on testing cryptic splicing restoring antisense oligonucleotides (ASOs) for the cystic fibrosis transmembrane conductance regulator (CFTR) gene in 2D and organoid models. DOI: 10.1016/j.jcf.2026.01.001
January 29, 2026 at 10:14 AM
#apaperaday Today's pick is from Journal of Cystic Fibrosis by Stanleigh et al on testing cryptic splicing restoring antisense oligonucleotides (ASOs) for the cystic fibrosis transmembrane conductance regulator (CFTR) gene in 2D and organoid models. DOI: 10.1016/j.jcf.2026.01.001
#apaperaday Back in the office with a non-Duchenne pick and an origami hammerhead shark (latest addition to the repertoire). Today's pick is from Neurology by Dies et al on the role of academic centers in personalized experimental therapy development. DOI: 10.1212/WNL.0000000000214610
January 28, 2026 at 8:00 AM
#apaperaday Back in the office with a non-Duchenne pick and an origami hammerhead shark (latest addition to the repertoire). Today's pick is from Neurology by Dies et al on the role of academic centers in personalized experimental therapy development. DOI: 10.1212/WNL.0000000000214610
#apaperaday Today's pick is on microbiomes of mdx & wild typemice & the impact of transferring them between the 2, by Butcher et al in @faseborg.bsky.social journal. Read it at home but given the topic have to show off my @giantmicrobes.bsky.social office collection too. doi: 10.1096/fj.202502999R
January 27, 2026 at 7:32 AM
#apaperaday Today's pick is on microbiomes of mdx & wild typemice & the impact of transferring them between the 2, by Butcher et al in @faseborg.bsky.social journal. Read it at home but given the topic have to show off my @giantmicrobes.bsky.social office collection too. doi: 10.1096/fj.202502999R
#apaperaday from home due to a medical appointment, so had to resort to the home paper pile, which again is dystrophin related, with a preprint from Scientific Reports by Xuan et al on the impact of lack of dystrophin on vascular smooth muscle cells. doi: 10.1038/s41598-025-29484-3.
January 26, 2026 at 7:11 AM
#apaperaday from home due to a medical appointment, so had to resort to the home paper pile, which again is dystrophin related, with a preprint from Scientific Reports by Xuan et al on the impact of lack of dystrophin on vascular smooth muscle cells. doi: 10.1038/s41598-025-29484-3.
#apaperaday Last part of the TREAT-NMD related week is on dystrophin restoration in the brain of a mouse model by Vacca et al from Aurelie Goyenvalle's group in Molecular Therapy Nucleic Acids. While dystrophin was restored, there was no impact on behavior. Doi 10.1016/j.omtn.2025.102779
January 23, 2026 at 7:57 AM
#apaperaday Last part of the TREAT-NMD related week is on dystrophin restoration in the brain of a mouse model by Vacca et al from Aurelie Goyenvalle's group in Molecular Therapy Nucleic Acids. While dystrophin was restored, there was no impact on behavior. Doi 10.1016/j.omtn.2025.102779
#apaperaday Part 4 of the TREAT-NMD themed week is on newborn screening by Falk et al in Muscle and Nerve. The focus is on how to predict whether high creatine kinase (CK) levels were due to other factors related to the birth or to Duchenne. DOI 10.1002/mus.70089
January 22, 2026 at 7:54 AM
#apaperaday Part 4 of the TREAT-NMD themed week is on newborn screening by Falk et al in Muscle and Nerve. The focus is on how to predict whether high creatine kinase (CK) levels were due to other factors related to the birth or to Duchenne. DOI 10.1002/mus.70089
#apaperaday Still TREAT-NMD themed, now switching to the caregiver perspective with a pick from Dunne et al published in advanced therapies on how caregivers balance caregiving and working and which impact the caregiving has on employment and working hours. Doi 0.1007/s12325-025-03471-6
January 21, 2026 at 7:58 AM
#apaperaday Still TREAT-NMD themed, now switching to the caregiver perspective with a pick from Dunne et al published in advanced therapies on how caregivers balance caregiving and working and which impact the caregiving has on employment and working hours. Doi 0.1007/s12325-025-03471-6
#apaperaday Part 2 of TREAT-NMD themed week by Sbrocchi et al on how to manage adrenal suppression in Duchenne patients when transitioning to vamorolone published in journal of the endocrine society. Not straightforward because vomorolone is mineralcorticoid antagonist. Doi: 10.1210/jendso/bvaf181
January 20, 2026 at 8:07 AM
#apaperaday Part 2 of TREAT-NMD themed week by Sbrocchi et al on how to manage adrenal suppression in Duchenne patients when transitioning to vamorolone published in journal of the endocrine society. Not straightforward because vomorolone is mineralcorticoid antagonist. Doi: 10.1210/jendso/bvaf181
#apaperaday from Newcastle this week at TREAT-NMD HQ with a neuromuscular disease themed week, starting with a pre-proof by Duan and Herzog to be published in Molecular Therapy on deaths observed in Duchenne gene therapy. Not a nice topic but an important one. doi: 10.1016/j.ymthe.2025.12.067.
January 19, 2026 at 11:57 AM
#apaperaday from Newcastle this week at TREAT-NMD HQ with a neuromuscular disease themed week, starting with a pre-proof by Duan and Herzog to be published in Molecular Therapy on deaths observed in Duchenne gene therapy. Not a nice topic but an important one. doi: 10.1016/j.ymthe.2025.12.067.
#apaperaday Today's pick is on the biodistribution of tofersen (an antisense oligonucleotide approved for SOD1-ALS) in rats, non human primates and healthy volunteers using a radioactive tracer by Cook et al in the Journal of Nuclear Medicine. DOI: 10.2967/jnumed.125.270731
January 16, 2026 at 8:10 AM
#apaperaday Today's pick is on the biodistribution of tofersen (an antisense oligonucleotide approved for SOD1-ALS) in rats, non human primates and healthy volunteers using a radioactive tracer by Cook et al in the Journal of Nuclear Medicine. DOI: 10.2967/jnumed.125.270731
#apaperaday A paper by Siemionow et al in Stem Cell Reviews and Reports on the treatment of 3 non ambulatory Duchenne patients with a stem cell treatment. Note that I object to the scientific rationale and the hyped reporting of this (aka I do NOT endorse the message of this paper).
January 15, 2026 at 7:04 AM
#apaperaday A paper by Siemionow et al in Stem Cell Reviews and Reports on the treatment of 3 non ambulatory Duchenne patients with a stem cell treatment. Note that I object to the scientific rationale and the hyped reporting of this (aka I do NOT endorse the message of this paper).
#apaperaday Today's pick is a brief report by Kress et al in @worldmusclesociety.org journal neuromuscular disorders on the identification of a pathogenic variant in a Becker patient who descended from the family originally reported by Dr Becker (and Kiener) . DOI: 10.1016/j.nmd.2025.106281
January 14, 2026 at 7:38 AM
#apaperaday Today's pick is a brief report by Kress et al in @worldmusclesociety.org journal neuromuscular disorders on the identification of a pathogenic variant in a Becker patient who descended from the family originally reported by Dr Becker (and Kiener) . DOI: 10.1016/j.nmd.2025.106281
Transcript imbalance is a difficult/complex thing that is very pertinent for dystrophin transcripts, and as such has an impact on exon skipping, how efficient it can be, and how to properly assess exon skipping levels and why exon skipping levels are not 1:1 leading to dystrophin restoration levels
First paper of the year out (obviously written and accepted in 2025) in @worldmusclesociety.org journal neuromuscular disorders. It is a perspective with Rachele Rossi, Aurelie Goyenvalle, Pietro Spitali and Francesco Muntoni on dystrophin transcript imbalance
www.sciencedirect.com/science/arti...
www.sciencedirect.com/science/arti...
The complexity of dystrophin transcription and processing: implications of transcript imbalance on dystrophin gene targeting strategies
Duchenne muscular dystrophy (DMD) is a rare genetic disorder affecting male children, characterized by progressive muscle wasting and weakness. It is …
www.sciencedirect.com
January 13, 2026 at 8:23 AM
Transcript imbalance is a difficult/complex thing that is very pertinent for dystrophin transcripts, and as such has an impact on exon skipping, how efficient it can be, and how to properly assess exon skipping levels and why exon skipping levels are not 1:1 leading to dystrophin restoration levels
First paper of the year out (obviously written and accepted in 2025) in @worldmusclesociety.org journal neuromuscular disorders. It is a perspective with Rachele Rossi, Aurelie Goyenvalle, Pietro Spitali and Francesco Muntoni on dystrophin transcript imbalance
www.sciencedirect.com/science/arti...
www.sciencedirect.com/science/arti...
The complexity of dystrophin transcription and processing: implications of transcript imbalance on dystrophin gene targeting strategies
Duchenne muscular dystrophy (DMD) is a rare genetic disorder affecting male children, characterized by progressive muscle wasting and weakness. It is …
www.sciencedirect.com
January 13, 2026 at 8:21 AM
First paper of the year out (obviously written and accepted in 2025) in @worldmusclesociety.org journal neuromuscular disorders. It is a perspective with Rachele Rossi, Aurelie Goyenvalle, Pietro Spitali and Francesco Muntoni on dystrophin transcript imbalance
www.sciencedirect.com/science/arti...
www.sciencedirect.com/science/arti...
#apaperaday Today's pick is hot of the press: the 2 year analysis of EMBARK study with delandistrogene moxeparvovec (aka Elevidys) in ambulatory Duchenne patients. Already presented at conferences, now out as a peer reviewed paper in Neurology Therapy by Mendell et al DOI: 10.1007/s40120-025-00879-8
January 13, 2026 at 7:18 AM
#apaperaday Today's pick is hot of the press: the 2 year analysis of EMBARK study with delandistrogene moxeparvovec (aka Elevidys) in ambulatory Duchenne patients. Already presented at conferences, now out as a peer reviewed paper in Neurology Therapy by Mendell et al DOI: 10.1007/s40120-025-00879-8
#apaperaday is back from hibernation. Happy new year! Today's pick is by Sun et al in Clinical Chemistry on a detailed analysis of duplications mutations in the DMD gene. Important work as with duplications things are not always straightforward. DOI: 10.1093/clinchem/hvaf136
January 12, 2026 at 8:09 AM
#apaperaday is back from hibernation. Happy new year! Today's pick is by Sun et al in Clinical Chemistry on a detailed analysis of duplications mutations in the DMD gene. Important work as with duplications things are not always straightforward. DOI: 10.1093/clinchem/hvaf136
Reposted by Annemieke Aartsma-Rus
⏰ Save $250! Join us this March for the joint Keystone Symposia on Precision Genome Engineering & Nucleic Acid Therapeutics & Targeted Delivery. Register by Jan. 8 (11:59 pm MST).
🔗 keysym.us/KSGenomeEng26
🔗 keysym.us/KSNATherapy26
@weissmanlab.bsky.social @jbdsf.bsky.social @oligogirl.bsky.social
🔗 keysym.us/KSGenomeEng26
🔗 keysym.us/KSNATherapy26
@weissmanlab.bsky.social @jbdsf.bsky.social @oligogirl.bsky.social
January 6, 2026 at 9:24 PM
⏰ Save $250! Join us this March for the joint Keystone Symposia on Precision Genome Engineering & Nucleic Acid Therapeutics & Targeted Delivery. Register by Jan. 8 (11:59 pm MST).
🔗 keysym.us/KSGenomeEng26
🔗 keysym.us/KSNATherapy26
@weissmanlab.bsky.social @jbdsf.bsky.social @oligogirl.bsky.social
🔗 keysym.us/KSGenomeEng26
🔗 keysym.us/KSNATherapy26
@weissmanlab.bsky.social @jbdsf.bsky.social @oligogirl.bsky.social
#apaperaday The last pick of the year is a paper by Stunnenberg et al from 2020 published in @mdpiopenaccess.bsky.social healthcare about the generation of an ethical framework to assess if traditional N-of-1 trials are care or research. doi: 10.3390/healthcare8010049.
December 19, 2025 at 7:55 AM
#apaperaday The last pick of the year is a paper by Stunnenberg et al from 2020 published in @mdpiopenaccess.bsky.social healthcare about the generation of an ethical framework to assess if traditional N-of-1 trials are care or research. doi: 10.3390/healthcare8010049.