Tag

Aso

All articles tagged with #aso

science14 days ago•10 min saved

Allele-Specific Antisense Therapy Reduces Seizures in SCN2A-Linked Epilepsy

Researchers report that allele-specific antisense oligonucleotides targeting faulty SCN2A mRNA in two boys with severe epileptic encephalopathy dramatically reduced seizures and improved development, by selectively silencing the mutant gene while sparing the healthy copy. The 9‑year‑old needed 12 ASO doses over 24 months and could discontinue phenytoin; the 14‑year‑old received 8 doses over 16 months, with seizures dropping from about two per day to zero and notable gains in language and motor skills. This precision approach offers a middle ground between DNA editing and conventional meds and could be applicable earlier in development, though broader use and long-term effects remain to be seen.

via Hackaday|

#allele-specific #antisense-therapy #aso

sports1 month ago•14 min saved

Tour de France 2026 Preview: A Spain–France Route Packed With Climb-Filled Days

A detailed stage-by-stage preview of the 2026 Tour de France, a 3,321 km route through Spain and France with about 54,450 m of climbing. Highlights include the first team time trial since 2019 with per-rider times, a relatively short 26 km in-ear ITT, a mix of sprint and mountain days, and two rest days that set up a drama-filled second week. The piece grades each stage’s excitement, notes key climbs like Solaison and Alpe d’Huez, and discusses possible GC dynamics and team strategies without naming a winner.

via Defector|

#2026-route #aso #cycling

sports3 months ago•66 min saved

ASO defends shorter Paris-Roubaix Femmes broadcast amid Bas Tietema controversy

ASO race director Thierry Gouvenou defended trimming Paris-Roubaix Femmes coverage to about 90 minutes on the same day as the men, arguing a larger Sunday audience offsets fewer minutes and citing Nord region logistics; he said the women’s race was scheduled after the men to align with other classics and addressed funding challenges in women’s cycling, noting sponsorship withdrawals like Zwift. Gouvenou also referenced a 2022 incident where Bas Tietema’s social-media content disrupted road closures, calling him a moron, but insisted there is no personal rift and that sport comes first while acknowledging the ongoing budget realities for women’s racing.

via Cyclingnews|

#aso #bas-tietema #broadcasting

health2 years ago•9 min saved

Personalized Medicine: Revolutionizing Healthcare for All

Bespoke therapies, such as antisense oligonucleotide (ASO) treatments, are offering hope for patients with ultra-rare diseases who have no other options. These personalized treatments, designed for a single patient or a small population, are made possible by advances in medicine like gene therapy and mRNA technology. While challenges remain in terms of finding the right match between disease and treatment, delivering the treatment effectively, and ensuring safety, these therapies have the potential to transform the lives of patients with rare diseases. Nonprofits like n-Lorem are working to develop drugs for people with ultra-rare genetic diseases, and organizations like the N=1 Collaborative are focused on standardizing data collection and sharing to improve outcomes. Although there are financial challenges, the potential to save lives and provide a future for patients with rare diseases is driving progress in this field.

via USA TODAY|

#aso #bespoke-therapies #gene-therapy