#rarediseases — Public Fediverse posts
Live and recent posts from across the Fediverse tagged #rarediseases, aggregated by home.social.
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UNC Healthcare: UNC Awarded Up to $35 Million to Lead Landmark Initiative to Build World’s Largest Data Resource for Rare Disease AI. “To address the challenges of rare disease diagnosis, the UNC School of Medicine and Emory University are leading a first-of-its-kind research initiative to build a comprehensive data resource. Designed to power AI-driven insights, new and existing tools will […]
https://rbfirehose.com/2026/09/06/unc-healthcare-unc-awarded-up-to-35-million-to-lead-landmark-initiative-to-build-worlds-largest-data-resource-for-rare-disease-ai/ -
UNC Healthcare: UNC Awarded Up to $35 Million to Lead Landmark Initiative to Build World’s Largest Data Resource for Rare Disease AI. “To address the challenges of rare disease diagnosis, the UNC School of Medicine and Emory University are leading a first-of-its-kind research initiative to build a comprehensive data resource. Designed to power AI-driven insights, new and existing tools will […]
https://rbfirehose.com/2026/09/06/unc-healthcare-unc-awarded-up-to-35-million-to-lead-landmark-initiative-to-build-worlds-largest-data-resource-for-rare-disease-ai/ -
UNC Healthcare: UNC Awarded Up to $35 Million to Lead Landmark Initiative to Build World’s Largest Data Resource for Rare Disease AI. “To address the challenges of rare disease diagnosis, the UNC School of Medicine and Emory University are leading a first-of-its-kind research initiative to build a comprehensive data resource. Designed to power AI-driven insights, new and existing tools will […]
https://rbfirehose.com/2026/09/06/unc-healthcare-unc-awarded-up-to-35-million-to-lead-landmark-initiative-to-build-worlds-largest-data-resource-for-rare-disease-ai/ -
UNC Healthcare: UNC Awarded Up to $35 Million to Lead Landmark Initiative to Build World’s Largest Data Resource for Rare Disease AI. “To address the challenges of rare disease diagnosis, the UNC School of Medicine and Emory University are leading a first-of-its-kind research initiative to build a comprehensive data resource. Designed to power AI-driven insights, new and existing tools will […]
https://rbfirehose.com/2026/09/06/unc-healthcare-unc-awarded-up-to-35-million-to-lead-landmark-initiative-to-build-worlds-largest-data-resource-for-rare-disease-ai/ -
UNC Healthcare: UNC Awarded Up to $35 Million to Lead Landmark Initiative to Build World’s Largest Data Resource for Rare Disease AI. “To address the challenges of rare disease diagnosis, the UNC School of Medicine and Emory University are leading a first-of-its-kind research initiative to build a comprehensive data resource. Designed to power AI-driven insights, new and existing tools will […]
https://rbfirehose.com/2026/09/06/unc-healthcare-unc-awarded-up-to-35-million-to-lead-landmark-initiative-to-build-worlds-largest-data-resource-for-rare-disease-ai/ -
I’ll attend the #EuroNDD Workshop in Warsaw in April. Anyone around the Fediverse going there as well? —> let’s connect!
I’m looking forward to present our work at https://www.findme2care.de AND hear about all the other projects.
Also: I’ll be co-hosting an educational session and roundtable discussion titled „Building Patient Registries under the GDPR – The Good, the Bad and the Ugly“ —> there are a few seats left for conference attendees!
#humangenetics #genetics #RareDiseases #RareDisease #ERN #ERNIthaca #patientregistry
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💪 Could one molecular “typo” break the balance between strength and flexibility in our muscles?
🔗 Dynamical features of smooth muscle actin pathological mutants: The arginine-257(258)-Cysteine cases. Computational and Structural Biotechnology Journal, DOI: https://doi.org/10.1016/j.csbj.2025.02.010
📚 CSBJ: https://www.csbj.org/
#ComputationalBiology #MolecularDynamics #ProteinScience #Actin #RareDiseases #PrecisionMedicine #Biophysics #CryoEM #Bioinformatics #DrugDiscovery #VisceralMyopathy #AorticAneurysm
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Scientific Director
CureGRIN FoundationCureGRIN is looking for a brilliant, driven, junior PhD who will work remotely with researchers, clinicians, industry and patient families.
See the full job description on jobRxiv: https://jobrxiv.org/job/curegrin-foundation-27778-scientific-director/
#clinicaltrial #communityengagement #preclinical #rarediseases #Translationalmedicine #ScienceJobs #hiring #research
https://jobrxiv.org/job/curegrin-foundation-27778-scientific-director/?fsp_sid=3847 -
Scientific Director
CureGRIN FoundationCureGRIN is looking for a brilliant, driven, junior PhD who will work remotely with researchers, clinicians, industry and patient families.
See the full job description on jobRxiv: https://jobrxiv.org/job/curegrin-foundation-27778-scientific-director/
#clinicaltrial #communityengagement #preclinical #rarediseases #Translationalmedicine #ScienceJobs #hiring #research
https://jobrxiv.org/job/curegrin-foundation-27778-scientific-director/?fsp_sid=3742 -
📯 Just published! The February IHI newsletter at https://europa.eu/!cNp8tC
✅ How our projects are helping to make the #EHDS a reality
✅ Our MACUSTAR project on eye disease received a letter of support from the EMA
✅ AMR project COMBINE trained an #AI model to improve the selection of compounds that can fight multi-drug resistant bacteria
✅ We meet new IHI projects on #RareDiseases, greener drug manufacture & more patient friendly #BloodTests
#RareDiseaseDay #IHITransformingHealth #HorizonEU -
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Esclerosis Sistémica Progresiva 🌻 A menudo se diagnostica ya avanzada. Yo tuve la "suerte" de estar en estudio de otras enfermedades #autoinmunes e hizo que lo que pudo ser una #esclerodermia quedara en pre-esclerodermia desde 2015🤞
#246 A la sombra de un girasol 🐺 https://domandoallobo.blogspot.com/2017/06/246-esclerodermia-Sjogren-Raynaud.html #blog #mastoblogs #mastobloguers
#29Junio #DiaMundialDeLaEsclerodermia 🌻#WorldSclerodermaDay#EnfermedadesRaras #EERR #RareDiseases #disabled #dependence #autoimmune #discapacidad #dependencia
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Wonderful!
For more sleeps ...
🙂 :happy:#cilia #ciliopathy #RareDiseases #centrosome #centriole #CellBiology #DevelopmentalBiology #DevBio
@cilia -
Hi Elif!!! Great to see you on #ScienceMastodon! Welcome! 😊
And a Happy New Year! 🎉🥳
#cilia #centriole #centrosome #RareDiseases #NewHere
#CellBiology #Ciliopathy -
Incidentally, in our latest article in #FrontiersInGenetics we discuss the "Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America" including the opportunity to implement #GenomicSequencing as an add-on to current NBS programs to provide accurate diagnoses for patients living with #RareDiseases in #LATAM #GenomicEquity
https://www.frontiersin.org/articles/10.3389/fgene.2022.1053559/full
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The future of #NewbornScreening (NBS) is #GenomicSequencing for the early and accurate diagnosis of hundreds of #RareDiseases that if treated early can prevent early mortality & disability.
While the UK will be launching the Newborn Genomes Programme next year, many other countries around the world screen for just a handful of conditions and some others don't even have NBS programs in place. #GenomicEquity
