#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

https://www.europesays.com/uk/501670/ Baylor Genetics Presents New Data on Clinical and #ASHG #BaylorGenetics #ClinicalDiagnostics #GeneticTesting #Genetics #Genome #RareDisease #RareGeneticDisorders #RNASequencing #Science #sequencing #UK #UnitedKingdom

📣 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

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

:happy: Just found this on the bird net :happy:

📣 📣 📣 Delighted to distribute the announcement of the 6th European Cilia conference CILIA2024

I can't wait to meet everyone and present our work in Dublin!

To those not familiar with cilia and flagella: these are the greatest organelles of all 😊

#Cilia2024 #Cilia2022 #RareDisease #ADPKD #BBS
#DevBiol #CellBiology #Science
@cilia

:happy: Just found this on the bird net :happy:

📣 📣 📣 Delighted to distribute the announcement of the 6th European Cilia conference CILIA2024

I can't wait to meet everyone and present our work in Dublin!

To those not familiar with cilia and flagella: these are the greatest organelles of all 😊

#Cilia2024 #Cilia2022 #RareDisease #ADPKD #BBS
#DevBiol #CellBiology #Science
@cilia

:happy: Just found this on the bird net :happy:

📣 📣 📣 Delighted to distribute the announcement of the 6th European Cilia conference CILIA2024

I can't wait to meet everyone and present our work in Dublin!

To those not familiar with cilia and flagella: these are the greatest organelles of all 😊

#Cilia2024 #Cilia2022 #RareDisease #ADPKD #BBS
#DevBiol #CellBiology #Science
@cilia

:happy: Just found this on the bird net :happy:

📣 📣 📣 Delighted to distribute the announcement of the 6th European Cilia conference CILIA2024

I can't wait to meet everyone and present our work in Dublin!

To those not familiar with cilia and flagella: these are the greatest organelles of all 😊

#Cilia2024 #Cilia2022 #RareDisease #ADPKD #BBS
#DevBiol #CellBiology #Science
@cilia

📣 Today the very last invoice of "EMBO Cilia2022" in :koeln: was finally transferred and so this chapter closes. :koelsch: :happy:

A final huge THANK YOU to ALL who made this meeting such a success.

Looking forward to meeting you in Dublin at Cilia2024 🙂

#Cilia2022 #CIlia2024 @cilia #EMBOCilia2022
@UniKoeln #science #ciliopathy #RareDisease

📣 Today the very last invoice of "EMBO Cilia2022" in :koeln: was finally transferred and so this chapter closes. :koelsch: :happy:

A final huge THANK YOU to ALL who made this meeting such a success.

Looking forward to meeting you in Dublin at Cilia2024 🙂

#Cilia2022 #CIlia2024 @cilia #EMBOCilia2022
@UniKoeln #science #ciliopathy #RareDisease

📣 Today the very last invoice of "EMBO Cilia2022" in :koeln: was finally transferred and so this chapter closes. :koelsch: :happy:

A final huge THANK YOU to ALL who made this meeting such a success.

Looking forward to meeting you in Dublin at Cilia2024 🙂

#Cilia2022 #CIlia2024 @cilia #EMBOCilia2022
@UniKoeln #science #ciliopathy #RareDisease

📣 Today the very last invoice of "EMBO Cilia2022" in :koeln: was finally transferred and so this chapter closes. :koelsch: :happy:

A final huge THANK YOU to ALL who made this meeting such a success.

Looking forward to meeting you in Dublin at Cilia2024 🙂

#Cilia2022 #CIlia2024 @cilia #EMBOCilia2022
@UniKoeln #science #ciliopathy #RareDisease

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

Data Support Placebo Group Alternatives in Rare Disease Trials

Findings from a review of medical #data and #records indicate matched #genetic control groups may not be needed in clinical trials testing treatments for Duchenne muscular dystrophy.

https://sciencebusiness.technewslit.com/?p=44426

#News #Science #Business #ClinicalTrials #DuchenneMuscularDystrophy #Neuroscience #Neurology #ControlGroup #Placebo #Statistics #RareDisease #InheritedDisease #RealWorldData