#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

Top researcher appointed inaugural Dr Patricia Kailis Chair in Rare Diseases

Internationally recognised leader in rare neuromuscular disease research Professor Gina Ravenscroft has been appointed the inaugural Dr Patricia…
#NewsBeep #News #Science #AU #Australia #disease #DrPatriciaKailis #Genetic #ginaRavenscroft #MedicalResearch #Perkins #rarecancercentre #raredisease #StanPerronCharitableFoundation #uwa
https://www.newsbeep.com/au/767024/

Top researcher appointed inaugural Dr Patricia Kailis Chair in Rare Diseases

Internationally recognised leader in rare neuromuscular disease research Professor Gina Ravenscroft has been appointed the inaugural Dr Patricia…
#NewsBeep #News #Science #AU #Australia #disease #DrPatriciaKailis #Genetic #ginaRavenscroft #MedicalResearch #Perkins #rarecancercentre #raredisease #StanPerronCharitableFoundation #uwa
https://www.newsbeep.com/au/767024/

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

@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