#raredisease — Public Fediverse posts

"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

"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

"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

"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

"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

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

new paper: "A collaborative network analysis for the interpretation of transcriptomics data in Huntington’s disease" https://doi.org/10.1038/s41598-025-85580-4

"our study shows that collaborative network analysis approaches are well-suited to study rare diseases, as they provide hypotheses for pathogenic mechanisms from multiple perspectives."

#bioinformatics #huntingtons #transcriptomics #rareDisease

📢 Dr. Haicui Wang erhält Forschungsgelder für den Bau eines 3D-Muskelmodells für zentronukleäre Myopathie, bei dem eine Behandlung mit der CRISPR-Technologie untersucht wird. Mehr Infos 👉 https://tinyurl.com/37ejbw69

#ZNM #raredisease #Forschung #ScienceCampusBS #CRISPR

📷 Zusammen Stark! e.V.

A new company developing treatments for neurological and psychiatric diseases from aberrant immune system activity is raising $58 million in seed funds.

https://sciencebusiness.technewslit.com/?p=45199

#News #Press #Science #Business #Biotechnology #Finance #Autoimmune #Encephalitis #MentalHealth #Psychosis #SeedFunds #VentureCapital #Investment #Preclinical #FDA #OrphanDrug #RareDisease