#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

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

Bipartisan congressional panel warns the US is losing its global lead on rare disease cures

https://www.medicaldaily.com/nsceb-rare-disease-report-barriers-therapies-recommendations-congress-477044

#wellness #raredisease #healthcare

🔬 Paid Research Opportunity: Wet Macular Degeneration and/or Diabetic Macular Edema | By Dr. Kirk Adams | Courtesy of the PWD Media Co-op
https://rarepatientvoice.com/rp/DrKirk

Rare Patient Voice wants to hear from you — they'll pay for your time.

👤 Who: Patients & Caregivers, ages 45-99, affected by Wet Macular Degeneration and/or Diabetic Macular Edema
📝 What: 45-minute Web-Assisted Telephone Interview
💵 Compensation: $125

Please share with anyone who may qualify. 💜

#RarePatientVoice #RareDisease

🔬 Paid Research Opportunity: Wet Macular Degeneration and/or Diabetic Macular Edema | By Dr. Kirk Adams | Courtesy of the PWD Media Co-op
https://rarepatientvoice.com/rp/DrKirk

Rare Patient Voice wants to hear from you — they'll pay for your time.

👤 Who: Patients & Caregivers, ages 45-99, affected by Wet Macular Degeneration and/or Diabetic Macular Edema
📝 What: 45-minute Web-Assisted Telephone Interview
💵 Compensation: $125

Please share with anyone who may qualify. 💜

#RarePatientVoice #RareDisease

🔬 Paid Research Opportunity: Wet Macular Degeneration and/or Diabetic Macular Edema | By Dr. Kirk Adams | Courtesy of the PWD Media Co-op
https://rarepatientvoice.com/rp/DrKirk

Rare Patient Voice wants to hear from you — they'll pay for your time.

👤 Who: Patients & Caregivers, ages 45-99, affected by Wet Macular Degeneration and/or Diabetic Macular Edema
📝 What: 45-minute Web-Assisted Telephone Interview
💵 Compensation: $125

Please share with anyone who may qualify. 💜

#RarePatientVoice #RareDisease

🔬 Paid Research Opportunity: Wet Macular Degeneration and/or Diabetic Macular Edema | By Dr. Kirk Adams | Courtesy of the PWD Media Co-op
https://rarepatientvoice.com/rp/DrKirk

Rare Patient Voice wants to hear from you — they'll pay for your time.

👤 Who: Patients & Caregivers, ages 45-99, affected by Wet Macular Degeneration and/or Diabetic Macular Edema
📝 What: 45-minute Web-Assisted Telephone Interview
💵 Compensation: $125

Please share with anyone who may qualify. 💜

#RarePatientVoice #RareDisease

🔬 Paid Research Opportunity: Wet Macular Degeneration and/or Diabetic Macular Edema | By Dr. Kirk Adams | Courtesy of the PWD Media Co-op
https://rarepatientvoice.com/rp/DrKirk

Rare Patient Voice wants to hear from you — they'll pay for your time.

👤 Who: Patients & Caregivers, ages 45-99, affected by Wet Macular Degeneration and/or Diabetic Macular Edema
📝 What: 45-minute Web-Assisted Telephone Interview
💵 Compensation: $125

Please share with anyone who may qualify. 💜

#RarePatientVoice #RareDisease

🔬 Paid Research Opportunity: Wet Macular Degeneration and/or Diabetic Macular Edema | By Dr. Kirk Adams | Courtesy of the PWD Media Co-op
https://rarepatientvoice.com/rp/DrKirk

Rare Patient Voice wants to hear from you — they'll pay for your time.

👤 Who: Patients & Caregivers, ages 45-99, affected by Wet Macular Degeneration and/or Diabetic Macular Edema
📝 What: 45-minute Web-Assisted Telephone Interview
💵 Compensation: $125

Please share with anyone who may qualify. 💜

#RarePatientVoice #RareDisease

🔬 Paid Research Opportunity: Wet Macular Degeneration and/or Diabetic Macular Edema | By Dr. Kirk Adams | Courtesy of the PWD Media Co-op
https://rarepatientvoice.com/rp/DrKirk

Rare Patient Voice wants to hear from you — they'll pay for your time.

👤 Who: Patients & Caregivers, ages 45-99, affected by Wet Macular Degeneration and/or Diabetic Macular Edema
📝 What: 45-minute Web-Assisted Telephone Interview
💵 Compensation: $125

Please share with anyone who may qualify. 💜

#RarePatientVoice #RareDisease

🔬 Paid Research Opportunity: Wet Macular Degeneration and/or Diabetic Macular Edema | By Dr. Kirk Adams | Courtesy of the PWD Media Co-op
https://rarepatientvoice.com/rp/DrKirk

Rare Patient Voice wants to hear from you — they'll pay for your time.

👤 Who: Patients & Caregivers, ages 45-99, affected by Wet Macular Degeneration and/or Diabetic Macular Edema
📝 What: 45-minute Web-Assisted Telephone Interview
💵 Compensation: $125

Please share with anyone who may qualify. 💜

#RarePatientVoice #RareDisease

🔬 Paid Research Opportunity: Wet Macular Degeneration and/or Diabetic Macular Edema | By Dr. Kirk Adams | Courtesy of the PWD Media Co-op
https://rarepatientvoice.com/rp/DrKirk

Rare Patient Voice wants to hear from you — they'll pay for your time.

👤 Who: Patients & Caregivers, ages 45-99, affected by Wet Macular Degeneration and/or Diabetic Macular Edema
📝 What: 45-minute Web-Assisted Telephone Interview
💵 Compensation: $125

Please share with anyone who may qualify. 💜

#RarePatientVoice #RareDisease

🔬 Paid Research Opportunity: Wet Macular Degeneration and/or Diabetic Macular Edema | By Dr. Kirk Adams | Courtesy of the PWD Media Co-op
https://rarepatientvoice.com/rp/DrKirk

Rare Patient Voice wants to hear from you — they'll pay for your time.

👤 Who: Patients & Caregivers, ages 45-99, affected by Wet Macular Degeneration and/or Diabetic Macular Edema
📝 What: 45-minute Web-Assisted Telephone Interview
💵 Compensation: $125

Please share with anyone who may qualify. 💜

#RarePatientVoice #RareDisease

🔬 Paid Research Opportunity: Wet Macular Degeneration and/or Diabetic Macular Edema | By Dr. Kirk Adams | Courtesy of the PWD Media Co-op
https://rarepatientvoice.com/rp/DrKirk

Rare Patient Voice wants to hear from you — they'll pay for your time.

👤 Who: Patients & Caregivers, ages 45-99, affected by Wet Macular Degeneration and/or Diabetic Macular Edema
📝 What: 45-minute Web-Assisted Telephone Interview
💵 Compensation: $125

Please share with anyone who may qualify. 💜

#RarePatientVoice #RareDisease

🔬 Paid Research Opportunity: Wet Macular Degeneration and/or Diabetic Macular Edema | By Dr. Kirk Adams | Courtesy of the PWD Media Co-op
https://rarepatientvoice.com/rp/DrKirk

Rare Patient Voice wants to hear from you — they'll pay for your time.

👤 Who: Patients & Caregivers, ages 45-99, affected by Wet Macular Degeneration and/or Diabetic Macular Edema
📝 What: 45-minute Web-Assisted Telephone Interview
💵 Compensation: $125

Please share with anyone who may qualify. 💜

#RarePatientVoice #RareDisease

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.

#RareDisease #Genetics #RSTS #Telehealth #MedicalEducation

🔬 Paid Research Opportunity: Neurotrophic Keratitis | By Dr. Kirk Adams | Courtesy of the PWD Media Co-op
https://rarepatientvoice.com/rp/DrKirk

Living with Neurotrophic Keratitis, or know someone who is? Rare Patient Voice wants to hear from you — and they'll pay you for your time.

👤 Who: Patients diagnosed with Neurotrophic Keratitis
📝 What: 15-minute online survey
💵 Compensation: $30

Please share with anyone who may qualify. 💜

#RarePatientVoice #RareDisease

🔬 Paid Research Opportunity: Neurotrophic Keratitis | By Dr. Kirk Adams | Courtesy of the PWD Media Co-op
https://rarepatientvoice.com/rp/DrKirk

Living with Neurotrophic Keratitis, or know someone who is? Rare Patient Voice wants to hear from you — and they'll pay you for your time.

👤 Who: Patients diagnosed with Neurotrophic Keratitis
📝 What: 15-minute online survey
💵 Compensation: $30

Please share with anyone who may qualify. 💜

#RarePatientVoice #RareDisease

🔬 Paid Research Opportunity: Neurotrophic Keratitis | By Dr. Kirk Adams | Courtesy of the PWD Media Co-op
https://rarepatientvoice.com/rp/DrKirk

Living with Neurotrophic Keratitis, or know someone who is? Rare Patient Voice wants to hear from you — and they'll pay you for your time.

👤 Who: Patients diagnosed with Neurotrophic Keratitis
📝 What: 15-minute online survey
💵 Compensation: $30

Please share with anyone who may qualify. 💜

#RarePatientVoice #RareDisease

🔬 Paid Research Opportunity: Stargardt Disease | By Dr. Kirk Adams | Courtesy of the PWD Media Co-op
https://rarepatientvoice.com/rp/DrKirk

Living with Stargardt Disease, or caring for a loved one who is? Rare Patient Voice wants to hear from you — and they'll pay you for your time.

👤 Who: Patients & caregivers affected by Stargardt Disease
📝 What: 60-minute web-assisted telephone interview
💵 Compensation: $120

Please share with anyone who may qualify. 💜

#RarePatientVoice #RareDisease

🔬 Paid Research Opportunity: Stargardt Disease | By Dr. Kirk Adams | Courtesy of the PWD Media Co-op
https://rarepatientvoice.com/rp/DrKirk

Living with Stargardt Disease, or caring for a loved one who is? Rare Patient Voice wants to hear from you — and they'll pay you for your time.

👤 Who: Patients & caregivers affected by Stargardt Disease
📝 What: 60-minute web-assisted telephone interview
💵 Compensation: $120

Please share with anyone who may qualify. 💜

#RarePatientVoice #RareDisease

🔬 Paid Research Opportunity: Stargardt Disease | By Dr. Kirk Adams | Courtesy of the PWD Media Co-op
https://rarepatientvoice.com/rp/DrKirk

Living with Stargardt Disease, or caring for a loved one who is? Rare Patient Voice wants to hear from you — and they'll pay you for your time.

👤 Who: Patients & caregivers affected by Stargardt Disease
📝 What: 60-minute web-assisted telephone interview
💵 Compensation: $120

Please share with anyone who may qualify. 💜

#RarePatientVoice #RareDisease

Pipeline release! nf-core/raredisease v3.1.2 - 3.1.2 - Princess Peach (patch)!
Call and score variants from WGS/WES of rare disease patients.
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/3.1.2

#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics

🔬 Paid Research Opportunity: Neurotrophic Keratitis | By Dr. Kirk Adams | Courtesy of the PWD Media Co-op
https://rarepatientvoice.com/rp/DrKirk

Living with Neurotrophic Keratitis, or know someone who is? Rare Patient Voice wants to hear from you — and they'll pay you for your time.

👤 Who: Patients diagnosed with Neurotrophic Keratitis
📝 What: 15-minute online survey
💵 Compensation: $30

Please share with anyone who may qualify. 💜

#RarePatientVoice #RareDisease

🔬 Paid Research Opportunity: Neurotrophic Keratitis | By Dr. Kirk Adams | Courtesy of the PWD Media Co-op
https://rarepatientvoice.com/rp/DrKirk

Living with Neurotrophic Keratitis, or know someone who is? Rare Patient Voice wants to hear from you — and they'll pay you for your time.

👤 Who: Patients diagnosed with Neurotrophic Keratitis
📝 What: 15-minute online survey
💵 Compensation: $30

Please share with anyone who may qualify. 💜

#RarePatientVoice #RareDisease

🔬 Paid Research Opportunity: Neurotrophic Keratitis | By Dr. Kirk Adams | Courtesy of the PWD Media Co-op
https://rarepatientvoice.com/rp/DrKirk

Living with Neurotrophic Keratitis, or know someone who is? Rare Patient Voice wants to hear from you — and they'll pay you for your time.

👤 Who: Patients diagnosed with Neurotrophic Keratitis
📝 What: 15-minute online survey
💵 Compensation: $30

Please share with anyone who may qualify. 💜

#RarePatientVoice #RareDisease

Sanofi Rare Disease Pipeline Progress Puts Recent Share Price Weakness In Focus

Find winning stocks in any market cycle. Join 7 million investors using Simply Wall St’s investing ideas for…
#France #FR #Europe #EU #Sanofi #neurologicalsymptoms #raredisease #safetyprofile #type3Gaucherdisease
https://www.europesays.com/france/26627/

Heading back from the annual TheRaCil meeting 🚆

Great reports, fruitful discussions, novel ideas and an amazing evening on the Seine in Paris.

Special thanks to Sophie and the team in Paris for two productive and very valuable days!

#Cilia #Raredisease #ciliopathy #TheRaCil

@cilia

Annual greetings to those celebrating Easter on this day but have dietary restrictions regarding chocolate. Hope you had a good day and satisfied your sweet tooth in the way that suits you.🥚🐣 #DietaryRestriction #RareDisease #RareDiseaseCommunity #DairyFree #PKU #PKUAwareness #Mastodaoine

Thrilling times! :happy:

Following the exhilarating pre-kickoff rendezvous with #Theracil in Paris, today marked the electrifying pre-kickoff of Workpackage 2 in Cologne :koeln:

Our marathon discussions have truly borne fruit, propelling us forward with absolute clarity!

A huge thanks to everyone who journeyed to Cologne or powered up zoom to join us!

Ready, set, let the journey commence!!! 🚀🎉

#TheraCil #Ciliopathy #RareDisease #Collaboration #Science #Cilia #Sciencemastodon
@cilia