#raredisease — Public Fediverse posts on home.social

BioHackrXiv @[email protected] · 2026-09-04 · 15:34 UTC

"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

#biohackathon #ai #mha26 #raredisease

BioHackrXiv @[email protected] · 2026-09-04 · 15:34 UTC

"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

#biohackathon #ai #mha26 #raredisease

BioHackrXiv @[email protected] · 2026-09-04 · 15:34 UTC

"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

#raredisease #mha26 #ai #biohackathon

BioHackrXiv @[email protected] · 2026-09-04 · 15:34 UTC

"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

#biohackathon #ai #mha26 #raredisease

BioHackrXiv @[email protected] · 2026-09-04 · 15:34 UTC

"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

#biohackathon #ai #mha26 #raredisease

Earth Insider @[email protected] · 2026-08-12 · 02:03 UTC

Social Security Just Added 14 Rare Diseases to Its Fast-Track List — Here Is Who Qualifies

Full story 👇

Learn more: https://www.earthinsider.in/2026/08/social-security-adds-14-rare-diseases.html

#EarthInsider #EarthInsiderNews #EINews #US #America #USNews #USPolitics #SocialSecurity #RareDisease #DisabilityBenefits #BreakingNews #NewsAlert

#earthinsider #earthinsidernews #einews #us #america #usnews

Lanie @[email protected] · 2026-02-13 · 22:38 UTC

I just contacted my legislators about the Medical Foods and Formulas Access Act.

I use prescribed oral medical nutrition specifically to prevent needing a feeding tube. Right now the system will often cover the tube and hospital care but not the treatment that helps avoid it in the first place.

For many disabled and chronically ill patients this is the difference between staying stable and medical decline, especially for people on Medicaid or fixed incomes.

If you are in the US and this applies to you, the Rare Disease Action Network has a quick form you can use to contact your representatives.

https://rarediseases.quorum.us/campaign/154665

#MedicalFoods #RareDisease #DisabilityAdvocacy #HealthcareAccess #ChronicIllness #Medicaid #PatientAdvocacy

#medicalfoods #raredisease #disabilityadvocacy #healthcareaccess #chronicillness #medicaid

Bernhard Schermer @[email protected] · 2024-05-21 · 21:52 UTC

📣 A new star is born in the cilia world and cell death galaxy: Emilia Kieckhöfer brilliantly defended her PhD today! Congratulations!!! 🎉🥳👍

#cilia #necroptosis #bbs #raredisease #ciliopathies #celldeath #apoptosis #kidney #cysts #Nphp #Zilien

@cilia
@SFB1403 @CECAD
@UniKoeln

#cilia #necroptosis #bbs #raredisease #ciliopathies #celldeath

Bernhard Schermer @[email protected] · 2024-03-12 · 23:14 UTC

📣 Exciting update from the Nephrolab :koeln: Cologne:

This preprint marks our debut in the BBS research area, presenting work of Emilia Kieckhöfer on cystic kidney disease in Bbs8 and potential mechanisms.
A heartfelt thank you to Helen May-Simera and her team, along with all other contributors, for their invaluable support!

https://www.biorxiv.org/content/10.1101/2024.03.07.583949v1

#BBS #Ciliopathy #RareDisease #Nephrology #Kidney #Nephrolab #Cilia #BardetBiedl #Science #CellBiology #BBS8
@cilia