#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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Rubinstein-Taybi syndrome is a rare genetic condition that affects development, growth, learning, and multiple organ systems. Lifelong coordinated care can make a major difference.
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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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To be more specific I will be asking for the Justice Dept to issue a statement that this discrimination will not be tolerated and to, of course, not tolerate it. To be clear, in these cases patients are being told preemptively that they cannot ever receive care for certain conditions not being turned away in the moment which occurs in rationing. It begs the question what would happen if they were in active death due to the conditions #ComplexIllness #RareDisease #Healthcare