#raredisease — Public Fediverse posts
Live and recent posts from across the Fediverse tagged #raredisease, aggregated by home.social.
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"AI-Assisted Variant Review Across Asia: Country-Level Expert Panels, Regional Collaboration, and Global Knowledge Sharing" https://doi.org/10.37044/osf.io/e5g6s_v1
#biohackathon #ai #MHA26 #rareDisease
'We argue that the most useful near-term role of artificial intelligence (AI) is not autonomous variant classification, but reducing the friction between distributed evidence and distributed expert judgment. Building on collaborative platform development by participants from institutions in Japan, Singapore, the Philippines, and Thailand, we propose a common workflow connecting variant prioritization and evidence organization, structured expert review, and reviewed-knowledge sharing." https://index.biohackrxiv.org/2026/09/04/e5g6s.html
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"AI-Assisted Variant Review Across Asia: Country-Level Expert Panels, Regional Collaboration, and Global Knowledge Sharing" https://doi.org/10.37044/osf.io/e5g6s_v1
#biohackathon #ai #MHA26 #rareDisease
'We argue that the most useful near-term role of artificial intelligence (AI) is not autonomous variant classification, but reducing the friction between distributed evidence and distributed expert judgment. Building on collaborative platform development by participants from institutions in Japan, Singapore, the Philippines, and Thailand, we propose a common workflow connecting variant prioritization and evidence organization, structured expert review, and reviewed-knowledge sharing." https://index.biohackrxiv.org/2026/09/04/e5g6s.html
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"AI-Assisted Variant Review Across Asia: Country-Level Expert Panels, Regional Collaboration, and Global Knowledge Sharing" https://doi.org/10.37044/osf.io/e5g6s_v1
#biohackathon #ai #MHA26 #rareDisease
'We argue that the most useful near-term role of artificial intelligence (AI) is not autonomous variant classification, but reducing the friction between distributed evidence and distributed expert judgment. Building on collaborative platform development by participants from institutions in Japan, Singapore, the Philippines, and Thailand, we propose a common workflow connecting variant prioritization and evidence organization, structured expert review, and reviewed-knowledge sharing." https://index.biohackrxiv.org/2026/09/04/e5g6s.html
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"AI-Assisted Variant Review Across Asia: Country-Level Expert Panels, Regional Collaboration, and Global Knowledge Sharing" https://doi.org/10.37044/osf.io/e5g6s_v1
#biohackathon #ai #MHA26 #rareDisease
'We argue that the most useful near-term role of artificial intelligence (AI) is not autonomous variant classification, but reducing the friction between distributed evidence and distributed expert judgment. Building on collaborative platform development by participants from institutions in Japan, Singapore, the Philippines, and Thailand, we propose a common workflow connecting variant prioritization and evidence organization, structured expert review, and reviewed-knowledge sharing." https://index.biohackrxiv.org/2026/09/04/e5g6s.html
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"AI-Assisted Variant Review Across Asia: Country-Level Expert Panels, Regional Collaboration, and Global Knowledge Sharing" https://doi.org/10.37044/osf.io/e5g6s_v1
#biohackathon #ai #MHA26 #rareDisease
'We argue that the most useful near-term role of artificial intelligence (AI) is not autonomous variant classification, but reducing the friction between distributed evidence and distributed expert judgment. Building on collaborative platform development by participants from institutions in Japan, Singapore, the Philippines, and Thailand, we propose a common workflow connecting variant prioritization and evidence organization, structured expert review, and reviewed-knowledge sharing." https://index.biohackrxiv.org/2026/09/04/e5g6s.html
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Top researcher appointed inaugural Dr Patricia Kailis Chair in Rare Diseases
Internationally recognised leader in rare neuromuscular disease research Professor Gina Ravenscroft has been appointed the inaugural Dr Patricia…
#NewsBeep #News #Science #AU #Australia #disease #DrPatriciaKailis #Genetic #ginaRavenscroft #MedicalResearch #Perkins #rarecancercentre #raredisease #StanPerronCharitableFoundation #uwa
https://www.newsbeep.com/au/767024/ -
Top researcher appointed inaugural Dr Patricia Kailis Chair in Rare Diseases
Internationally recognised leader in rare neuromuscular disease research Professor Gina Ravenscroft has been appointed the inaugural Dr Patricia…
#NewsBeep #News #Science #AU #Australia #disease #DrPatriciaKailis #Genetic #ginaRavenscroft #MedicalResearch #Perkins #rarecancercentre #raredisease #StanPerronCharitableFoundation #uwa
https://www.newsbeep.com/au/767024/ -
With #HealthEquity, #Diversity and #Inclusion being top of agenda in healthcare discussions, #Equity for people living with #RareDisease is #EquitableAccess to diagnosis, treatment, health, social care and opportunity.
#DidYouKnow?#RareDiseaseDay #PatientEngagement #PatientInvolvement #MediPaCe
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Did you know, that collectively, the number of people living with a #RareDisease = to the population of the world’s 3rd largest country? 🤯
Support #RareDiseaseDay and join the discussion to raise awareness!
#RareDiseaseDay #PatientEngagement #PatientInvolvement #MediPaCe
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Ahead of #RareDiseaseDay 2023 #MediPaCe is showing support by sharing resources and information about rare diseases and #PatientEngagement to help raise awareness and encourage more #collaboration between the healthcare industry and patient community.
➡ Follow our campaign through our blog page (link below), or our social media channels and join the movement to raise awareness!