Maaike van Putten @oligogirl.bsky.social & co develop four new mouse models of Duchenne muscular dystrophy with clinically relevant exon deletions in the human DMD gene.
Read the Resources & Methods article for free: doi.org/10.1242/dmm....
Read the Resources & Methods article for free: doi.org/10.1242/dmm....
October 1, 2026 at 9:30 AM
Maaike van Putten @oligogirl.bsky.social & co develop four new mouse models of Duchenne muscular dystrophy with clinically relevant exon deletions in the human DMD gene.
Read the Resources & Methods article for free: doi.org/10.1242/dmm....
Read the Resources & Methods article for free: doi.org/10.1242/dmm....
ASCO Guideline Update: Therapy for Stage IV NSCLC w/ Driver Alterations
For first-line EGFR exon 20 insertions, clinicians should offer sunvozertinib monotherapy or platinum doublet chemotherapy plus amivantamab.
Read the updated guideline: https://bit.ly/46JViOM
#ASCOGuidelines
For first-line EGFR exon 20 insertions, clinicians should offer sunvozertinib monotherapy or platinum doublet chemotherapy plus amivantamab.
Read the updated guideline: https://bit.ly/46JViOM
#ASCOGuidelines
September 30, 2026 at 8:15 PM
ASCO Guideline Update: Therapy for Stage IV NSCLC w/ Driver Alterations
For first-line EGFR exon 20 insertions, clinicians should offer sunvozertinib monotherapy or platinum doublet chemotherapy plus amivantamab.
Read the updated guideline: https://bit.ly/46JViOM
#ASCOGuidelines
For first-line EGFR exon 20 insertions, clinicians should offer sunvozertinib monotherapy or platinum doublet chemotherapy plus amivantamab.
Read the updated guideline: https://bit.ly/46JViOM
#ASCOGuidelines
Groundbreaking research shows long-term reversal of Duchenne muscular dystrophy via LEAPER 2.0: circ-arRNAs enable effective exon skipping in monkeys & humans, paving the way for innovative treatments. PMID:42269605, Cell 2026, @Cell https://www.cell.com/cell/fulltext/S0092-8674(26)00589-1 #Medsky 🧪
https://www.cell.com/cell/fulltext/S0092-8674(26)00589-1
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www.cell.com
September 30, 2026 at 7:00 PM
Groundbreaking research shows long-term reversal of Duchenne muscular dystrophy via LEAPER 2.0: circ-arRNAs enable effective exon skipping in monkeys & humans, paving the way for innovative treatments. PMID:42269605, Cell 2026, @Cell https://www.cell.com/cell/fulltext/S0092-8674(26)00589-1 #Medsky 🧪
September: #MuscularDystrophy Awareness Month
🔹DMD | PMO exon skipping; PPMOs & AOCs aim to improve muscle delivery
🔹DM1 | ASOs & AOCs target DMPK RNA
🔹OPMD | Gene therapy approaches are under exploration
🔹LGMD | Gene therapy & oligonucleotide approaches are being investigated for selected subtypes
🔹DMD | PMO exon skipping; PPMOs & AOCs aim to improve muscle delivery
🔹DM1 | ASOs & AOCs target DMPK RNA
🔹OPMD | Gene therapy approaches are under exploration
🔹LGMD | Gene therapy & oligonucleotide approaches are being investigated for selected subtypes
September 30, 2026 at 12:00 PM
September: #MuscularDystrophy Awareness Month
🔹DMD | PMO exon skipping; PPMOs & AOCs aim to improve muscle delivery
🔹DM1 | ASOs & AOCs target DMPK RNA
🔹OPMD | Gene therapy approaches are under exploration
🔹LGMD | Gene therapy & oligonucleotide approaches are being investigated for selected subtypes
🔹DMD | PMO exon skipping; PPMOs & AOCs aim to improve muscle delivery
🔹DM1 | ASOs & AOCs target DMPK RNA
🔹OPMD | Gene therapy approaches are under exploration
🔹LGMD | Gene therapy & oligonucleotide approaches are being investigated for selected subtypes
Authors discuss further that the transcript imbalance was not restored by givinostat treatment, so likely the dystrophin increased is due to better exon skipping and more transcripts in general due to improved muscle quality.
September 30, 2026 at 4:53 AM
Authors discuss further that the transcript imbalance was not restored by givinostat treatment, so likely the dystrophin increased is due to better exon skipping and more transcripts in general due to improved muscle quality.
The same amount of exon skipping will result in less dystrophin in the human deletion hotspot, because there are less transcripts, so the total amount of restored transcripts will be reduced.
September 30, 2026 at 4:53 AM
The same amount of exon skipping will result in less dystrophin in the human deletion hotspot, because there are less transcripts, so the total amount of restored transcripts will be reduced.
Authors discuss the results of mdx52 mice are more relevant to human as the mdx mouse has a mutation at the start of the gene, where transcript imbalance is less strong. This means comparing mouse exon 23 skipping and human exon 51 skipping there will be a discrepancy fulllength transcripts amounts
September 30, 2026 at 4:52 AM
Authors discuss the results of mdx52 mice are more relevant to human as the mdx mouse has a mutation at the start of the gene, where transcript imbalance is less strong. This means comparing mouse exon 23 skipping and human exon 51 skipping there will be a discrepancy fulllength transcripts amounts
However, dystrophin levels were low, so a higher dose of ASOs was used in the 12 week study (75 mg/kg/week instead of 50). Now more skip and dystrophin was observed compared to 4 weeks of treatment. However, exon skipping levels were again not increased by the addition of givinostat.
September 30, 2026 at 4:48 AM
However, dystrophin levels were low, so a higher dose of ASOs was used in the 12 week study (75 mg/kg/week instead of 50). Now more skip and dystrophin was observed compared to 4 weeks of treatment. However, exon skipping levels were again not increased by the addition of givinostat.
Authors did a short and a long term study in mdx52 mice, treating them for 4 or 12 weeks with weekly ASO (tcDNA) and/or givinostat. After 4 weeks exon skipping levels were the same with or without givinostat, but the givinostat + ASO group showed higher levels of dystrophin in all muscles tested.
September 30, 2026 at 4:48 AM
Authors did a short and a long term study in mdx52 mice, treating them for 4 or 12 weeks with weekly ASO (tcDNA) and/or givinostat. After 4 weeks exon skipping levels were the same with or without givinostat, but the givinostat + ASO group showed higher levels of dystrophin in all muscles tested.
They showed HDAC inhibition increased the amount of nascent dystrophin transcripts. Authors tested the same in cultured cells from mdx, mdx52 & control mice. Also here givinostat ASO treatment increased exon skipping levels. For dystrophin restoration a trend for an increase was seen
September 30, 2026 at 4:47 AM
They showed HDAC inhibition increased the amount of nascent dystrophin transcripts. Authors tested the same in cultured cells from mdx, mdx52 & control mice. Also here givinostat ASO treatment increased exon skipping levels. For dystrophin restoration a trend for an increase was seen
This transcript imbalance was more severe in cells with mutations downstream. Authors tested 3 HDAC inhibitors: valproic acid, trichostatin A & givinostat in combination with exon skipping ASOs. The combination of givinostat and ASOs increased exon skipping levels significantly.
September 30, 2026 at 4:46 AM
This transcript imbalance was more severe in cells with mutations downstream. Authors tested 3 HDAC inhibitors: valproic acid, trichostatin A & givinostat in combination with exon skipping ASOs. The combination of givinostat and ASOs increased exon skipping levels significantly.
First authors showed in cells from human controls and Duchenne patients that when there is a mutation in the dystrophin gene this leads to a transcript imbalance, with 84% of started transcripts not reaching the end (and thus not allowing dystrophin restoration after exon skipping).
September 30, 2026 at 4:45 AM
First authors showed in cells from human controls and Duchenne patients that when there is a mutation in the dystrophin gene this leads to a transcript imbalance, with 84% of started transcripts not reaching the end (and thus not allowing dystrophin restoration after exon skipping).
However, that has a mutation at the beginning of the dystrophin gene, while most patients have more downstream mutations. Here authors focused on the mdx52 mouse, which has a more Duchenne relevant deletion of exon 52.
September 30, 2026 at 4:44 AM
However, that has a mutation at the beginning of the dystrophin gene, while most patients have more downstream mutations. Here authors focused on the mdx52 mouse, which has a more Duchenne relevant deletion of exon 52.
Both exon skipping and givinostat are approved treatments in the USA. The question rose whether combining them would lead to a synergistic effect, by improving pathology and the amount of transcripts you would expect more dystrophin.
This was already confirmed for the mdx mouse model.
This was already confirmed for the mdx mouse model.
September 30, 2026 at 4:44 AM
Both exon skipping and givinostat are approved treatments in the USA. The question rose whether combining them would lead to a synergistic effect, by improving pathology and the amount of transcripts you would expect more dystrophin.
This was already confirmed for the mdx mouse model.
This was already confirmed for the mdx mouse model.
To the paper: authors introduce exon skipping allows Duchenne patients to produce partially functional dystrophins. The efficiency relies on how many dystrophin RNA transcripts patients make. When muscle is degraded, there will be less transcripts, as fat/fibrotic tissues do not express dystrophin.
September 30, 2026 at 4:42 AM
To the paper: authors introduce exon skipping allows Duchenne patients to produce partially functional dystrophins. The efficiency relies on how many dystrophin RNA transcripts patients make. When muscle is degraded, there will be less transcripts, as fat/fibrotic tissues do not express dystrophin.
Disclosures: I consult for Italfarmaco and spoke in their symposium (reimbursement to LUMC but Italfarmaco funded my travels to #WMS2026). Also, I have been saying a combination of givinostat & exon skipping should have synergistic effects. This paper supports there may be ascertainment bias.
September 30, 2026 at 4:40 AM
Disclosures: I consult for Italfarmaco and spoke in their symposium (reimbursement to LUMC but Italfarmaco funded my travels to #WMS2026). Also, I have been saying a combination of givinostat & exon skipping should have synergistic effects. This paper supports there may be ascertainment bias.
#apaperaday Today’s pick is @worldmusclesociety.org and givinostat themed to commemorate the Italfarmaco symposium I’ve spoken at today. The pick is by Phongavanh et al in @moltherapy.bsky.social nucleic acids combining exon skipping and givinostat in mdx52 mice. Doi 10.1016/j.omtn.2026.103047
September 30, 2026 at 4:33 AM
#apaperaday Today’s pick is @worldmusclesociety.org and givinostat themed to commemorate the Italfarmaco symposium I’ve spoken at today. The pick is by Phongavanh et al in @moltherapy.bsky.social nucleic acids combining exon skipping and givinostat in mdx52 mice. Doi 10.1016/j.omtn.2026.103047
organic preds eating and digesting and maybe even disposing of robots goes hard
(my character Exon 100% does this)
(my character Exon 100% does this)
September 30, 2026 at 1:38 AM
organic preds eating and digesting and maybe even disposing of robots goes hard
(my character Exon 100% does this)
(my character Exon 100% does this)
Lol, never mind. You work for EVIL. Like, actual evil, palantir, grok and Exon levels of evil. You have no moral compass or you killed it. You would probably hunt a child for sport if your corporation told you to.
September 29, 2026 at 9:20 PM
Lol, never mind. You work for EVIL. Like, actual evil, palantir, grok and Exon levels of evil. You have no moral compass or you killed it. You would probably hunt a child for sport if your corporation told you to.
Interesting to see circular arRNA pushing exon skipping in a new direction, while I also understand SRPT’s established PMO programs and elevidys show how different genetic approaches can tackle DMD from multiple angles.
September 29, 2026 at 7:12 PM
Interesting to see circular arRNA pushing exon skipping in a new direction, while I also understand SRPT’s established PMO programs and elevidys show how different genetic approaches can tackle DMD from multiple angles.
Exon geht von drei Grad 2050 aus. Und "wir können" wird nie passieren, es läuft nur immer schneller. 2027 wird schon anstrengend für die Welt.
Das Klima wird ja nicht besser, wenn wir nur weniger verbrennen, aber es wird ja auch noch mehr. Und das was wir jetzt an Klima haben, ist der Dreck
Das Klima wird ja nicht besser, wenn wir nur weniger verbrennen, aber es wird ja auch noch mehr. Und das was wir jetzt an Klima haben, ist der Dreck
September 29, 2026 at 6:27 PM
Exon geht von drei Grad 2050 aus. Und "wir können" wird nie passieren, es läuft nur immer schneller. 2027 wird schon anstrengend für die Welt.
Das Klima wird ja nicht besser, wenn wir nur weniger verbrennen, aber es wird ja auch noch mehr. Und das was wir jetzt an Klima haben, ist der Dreck
Das Klima wird ja nicht besser, wenn wir nur weniger verbrennen, aber es wird ja auch noch mehr. Und das was wir jetzt an Klima haben, ist der Dreck
🔄 SUBSTITUTION 83' — Honduras: Luis Palma ↔ Exon Arzú. Jamaica 0–1 Honduras. CONCACAF Nations League
#jamaica #honduras #concacafnationsleague
#jamaica #honduras #concacafnationsleague
September 29, 2026 at 1:43 AM
🔄 SUBSTITUTION 83' — Honduras: Luis Palma ↔ Exon Arzú. Jamaica 0–1 Honduras. CONCACAF Nations League
#jamaica #honduras #concacafnationsleague
#jamaica #honduras #concacafnationsleague
DJT is in a crises for certain. He can't keep his reward for their hefty campaign donations as long as Iran maintains control of what he promised this oil donors' would be renamed, "The Straights of Exon."
September 28, 2026 at 3:55 PM
DJT is in a crises for certain. He can't keep his reward for their hefty campaign donations as long as Iran maintains control of what he promised this oil donors' would be renamed, "The Straights of Exon."
Murray's Musings | Episode 3
Difficult diseases demand bold science.
🎥 Hear Murray Abramson, MD, MPH’s perspective on how RNA exon editing is transforming what's possible.
Difficult diseases demand bold science.
🎥 Hear Murray Abramson, MD, MPH’s perspective on how RNA exon editing is transforming what's possible.
September 28, 2026 at 11:58 AM
Murray's Musings | Episode 3
Difficult diseases demand bold science.
🎥 Hear Murray Abramson, MD, MPH’s perspective on how RNA exon editing is transforming what's possible.
Difficult diseases demand bold science.
🎥 Hear Murray Abramson, MD, MPH’s perspective on how RNA exon editing is transforming what's possible.
Upcoming Asia-Pacific Genetics Seminar Series: October 14th
Professor Makoto Tachibana from the University of Osaka will present "Revisiting the mammalian sex-determining gene: A hidden exon essential for male development" 🐁🧬🐀
Pre-register on Zoom:
otago.zoom.us/webinar/regi...
Professor Makoto Tachibana from the University of Osaka will present "Revisiting the mammalian sex-determining gene: A hidden exon essential for male development" 🐁🧬🐀
Pre-register on Zoom:
otago.zoom.us/webinar/regi...
September 27, 2026 at 11:20 PM
Upcoming Asia-Pacific Genetics Seminar Series: October 14th
Professor Makoto Tachibana from the University of Osaka will present "Revisiting the mammalian sex-determining gene: A hidden exon essential for male development" 🐁🧬🐀
Pre-register on Zoom:
otago.zoom.us/webinar/regi...
Professor Makoto Tachibana from the University of Osaka will present "Revisiting the mammalian sex-determining gene: A hidden exon essential for male development" 🐁🧬🐀
Pre-register on Zoom:
otago.zoom.us/webinar/regi...