#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

Medical Denial Compounds Rare Condition Struggles

Megan Hetherington, 27, denied heart valve surgery due to antiphospholipid syndrome. Doctors advise living each day as her last.

#RareDisease, #HeartSurgery, #AntiphospholipidSyndrome, #MedicalDenial, #UKHealth

https://newsletter.tf/woman-denied-heart-surgery-rare-clotting-syndrome/

A 27-year-old woman has been denied a life-saving heart surgery, a situation doctors say means she should 'live every day like it's her last'. This is a stark warning for patients with rare conditions.

#RareDisease, #HeartSurgery, #AntiphospholipidSyndrome, #MedicalDenial, #UKHealth
https://newsletter.tf/woman-denied-heart-surgery-rare-clotting-syndrome/

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

📣 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

Clearly, there is still much to learn about this corner of the dark genome defined by HEATR5 proteins and their co-factors.

#Biorxiv #Preprint #MembraneTraffic #DarkGenome #DarkProteome #RareDisease #AlphaFold #AlphaFold2 #ProteinPrediction #Golgi #Clathrin #CellBiology #biochemistry #Bioscience

Register now for the amazing hybrid centrosome conference in Istanbul, hosted by Elif Nur Firat-Karalar!

Sharing this announcement on the fediverse. Unsure if Elif has joined Mastodon yet…

Some of us might see this as the basal body meeting 😉

@cilia
#Centrosome2023
#cilia #centrosome #centriole #Embo #EmboWorkshop #Science #zilien #RareDisease #ScienceMastodon #Zentrosom #developmentalbiology #biology @nephrology #CellBiology #Ciliopathy

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

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

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!

https://medipace.com/2023/02/22/rare-disease-day-2023/

#RareDisease #PatientInvolvement #MediPaCe

@scils_eu
@cilia

Please welcome SCiLS, representing a large group of cilia-enthusiasts :applause:

Great to meet you at #Sciencemastodon and the #Ciliverse 🙂 :beamingFace:

#cilia #ciliopathies #raredisease #PHDstudent

@Mill_lab

Pleasantine, this would be great - but: the group was somehow generated automatically - I can't edit the intro 🙁

So we have to keep on mentioning @cilia and adding the hashtags in our "toots". :happy:

#cilia #biology #centriole #developmentalbiology #devbiol #ciliopathy #raredisease #ADPKD #BBS #PCD #flagella #cysts #kidney
#coolestorganelleontheplanet #Ciliverse

@greg_pazour

Wonderful to see you here, Greg! A warm welcome to #ScienceMastodon and the expanding #ciliverse ! 🙂 🙂 🙂

#Cilia #raredisease #cellbiology #NewHere #Sciencefediverse