#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

US government supports research into one rare disorder: Hereditary Hemorrhagic Telangiectasia. #RareDisease #HHT #MedicalResearch #GeneticDisorders #HealthResearch
https://www.instagram.com/p/DbOtIsOpsDp/

US government supports research into one rare disorder: Hereditary Hemorrhagic Telangiectasia. #RareDisease #HHT #MedicalResearch #GeneticDisorders #HealthResearch
https://www.instagram.com/p/DbOtIsOpsDp/

🔬 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

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 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

Veranstaltungstechnik und -orga bei der Familienkonferenz des Vereins "Hand in Hand gegen Tay-Sachs, Sandhoff und GM1" für den deutschsprachigen Raum (und darüber hinaus). In diesem Jahr feiert der Verein sein Zehnjähriges.

https://tay-sachs-sandhoff.de/2025/09/04/grosse-familienkonferenz-zum-zehnjaehrigen-bestehen/

#SelteneErkrankung #RareDisease #Selbsthilfegruppe #TaySachs #MorbusSandhoff #GM1 #Würzburg

Microsoft explores AI assistant for diagnosing rare diseases

https://web.brid.gy/r/https://nerds.xyz/2025/09/microsoft-ai-assistant-diagnosing-rare-diseases/

Familienkonferenz #TaySachs, #Sandhoff und #GM1 für den deutschsprachigen Raum. Emotionale Achterbahnfahrt, tonnenweise Infos, Austausch von Betroffenen und Familien. Und ich darf Technik machen.
https://tay-sachs-sandhoff.de/
#SelteneKrankheiten #RareDisease #TaySachsSandhoff #Selbsthilfegruppe #Würzburg

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

Zum Tag der seltenen Erkrankungen sei auf die Podcast-Folge "Seltene Erkrankungen - zwischen Einsamkeit und geschenktem Glück" im Würzblog-Podcast hingewiesen, die vor drei Jahren aufgenommen wurde. Wie eine Familie mit der seltenen Erkrankung ihres Kinds lebt.
https://wuerzblog.de/2020/03/04/wuepod065-seltene-erkrankungen-zwischen-einsamkeit-und-geschenktem-glueck/
#SelteneErkrankung #RareDisease #RareDiseaseDay #Podacst #WüPod #TaySachs #Sandhoff