@bffo.bsky.socialFrom #OUP 's #DATABASE journal | Ensemble multi-retrieval methodologies with reasoning model decision in multi-step biomedical QA | #OpenScience #BioCuration #LLM #QA #QuestionAnswering #Wikipedia #RareDiseases | 🧬🖥️🧪🔓🇰🇷
⬇️
academic.oup.com/database/art...
@iic-umu-imib.bsky.social🧠🐟 Excited to share our new study on NEXMIF-related encephalopathy!
We developed a zebrafish model, identified novel modifiers of hyperactivity (ENTPD3, DDX43 & KBTBD7), and established a platform for drug discovery.
@livinglfs.bsky.social
@hlm4rare.bsky.social"Patients have to be there at the table to co-decide with the other stakeholders." 🤝
Our take-home message: every time there is a new mechanism or a new governance, patients have to be at the table.
@hlm4rare.bsky.social#RareDiseases are "an opportunity for innovation", not a cost. 📊
For the ERNs, cross-border registries are "not a choice", but a methodological requirement: there are not enough patients in one country.
A common ethical framework? "Yes, we need it."
@hlm4rare.bsky.social"Access starts with a proper diagnosis."
The way forward: faster decisions on what goes into newborn screening panels, more discussion on newborn screening, and a rare disease action plan, key for both diagnosis and other therapies.
👉 hlm4rare.eu
@hlm4rare.bsky.social"Europe does not lack clinical expertise." 🔬
Holm Graessner's message: we can do this now. We have what we need in place. What we need is trust, and the resources to deliver.
👉 Follow our work: hlm4rare.eu
@hlm4rare.bsky.social"If not now, when?" Maurizio Scarpa's answer: it's now. ⏳
Because a child born in Vilnius, Valencia or Vienna should have the same chance, not one that depends on their postcode.
👉 Follow our work: hlm4rare.eu
@nmd4c.caThe NMD4C October 2026 Newsletter is now live, featuring the latest updates from across Canada’s neuromuscular community.
🔗 Read this month’s edition: zc.vg/y4zCw?m=0
@drtimos.bsky.social🧬 Gene & Cell Therapy | #RareDiseases 🚀
#LucidQuest delivers sharp insights to help biotechs, investors & BD teams stay ahead in fast-moving markets.
📩 [email protected] or http://dlvr.it/TVqbST
#GeneTherapy #CellTherapy #Biotech #DueDiligence #InvestmentInsights
@mitoworld.bsky.social#Mitochondrialdiseases are central in the #rarediseases research realm, but recently are getting more recognition for the #metabolicdysfunction associated. @natmetabolism.nature.com looks at the metabolism angle in this latest viewpoint:
@cnag-eu.bsky.social📢 Save the date!
🗓️ 21 October | @erdera.bsky.social Annual Open Session
👉 As a partner in this EU-funded project, CNAG invites you to discover how innovation, collaboration and novel trial methodologies are advancing rare disease research
📝 Register: loom.ly/j7dWpj4
#RareDiseases #ERDERA #CNAG
@ctgct.bsky.socialThe story is not only about vector design. It includes patient-derived organoids, animal studies, biodistribution, toxicology, GMP manufacturing, dose selection, and years of regulatory preparation before the first patients can be treated.
@erdera.bsky.social💬 “By handling data in a structured and responsible way, we can build a shared European ecosystem.”
Ana Rath, ERDERA Data Services Co-Lead, explains how ERDERA is helping make rare disease data more findable, interoperable and reusable.
👉 Read more: https://loom.ly/y83u7Nk
#RareDiseases
@drugsincontext.bsky.social💊 Biochemical and clinical changes during enzymatic replacement therapy in hypophosphatasia: three real-world cases in Spain
Marbán Calzón et al.
www.drugsincontext.com/biochemical-...
#AlkalinePhosphatase #Hypophosphatasia #RareDiseases #OrphanDrugs @me.pharmsky.app @moderation.medsky.network
@institutimagine.bsky.socialOur international PPU-IMAGINE PhD call is open!
15 funded projects in rare genetic diseases
3-year contract
For Master's graduates from outside France
Apply by 16 Nov 2026:
www.institutimagine.org/en/internati...
@realised-ihi.bsky.socialJust back from #ISCB2026!
🎓Three #RealiseD researchers contributed to the programme: Stefanie Schoenen, Daniel Bodden & Vanessa Ihl delivered a pre-conference course and two oral sessions on #Randomisation and #ClinicalTrials
@mainzuniversity.bsky.socialScientists at @imbmainz.bsky.social shed new light on the #genetics of #telomere disorders: Study provides new insights into #mutations that cause telomere biology disorders 👉 www.unimedizin-mainz.de/en/newsroom/n…
@esendocrinology.bsky.socialDon't miss tomorrow's ESE Talks... #RareDiseases webinar - Artificial Intelligence in Rare Disease - with ESE, Endo-ERN and ESPE.
📅 6 October, 17:00-18:30 CEST
Join chairs Sofia Llahana and Elena Valassi as well as our expert speakers.
Register now 👉 https://ow.ly/L02w50Yrl6y
@hemehub.bsky.social🩸Happening next week!
⮕ Register: hemehub.org/live-webinars
⮕ Submit your cases: hemehub.org/case-submiss...
#AcuteIntermittentPorphyria #AIP #Porphyria #RareDiseases #Hematology #HemeOnc #ClinicalHematology #MedicalEducation #HemeHub
@utmbhealth.bsky.social