#raredisease — Public Fediverse posts
Live and recent posts from across the Fediverse tagged #raredisease, aggregated by home.social.
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"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
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"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
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"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
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"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
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"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
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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
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Bipartisan congressional panel warns the US is losing its global lead on rare disease cures
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🔬 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/DrKirkRare 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: $125Please share with anyone who may qualify. 💜
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🔬 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/DrKirkRare 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: $125Please share with anyone who may qualify. 💜
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🔬 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/DrKirkRare 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: $125Please share with anyone who may qualify. 💜
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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/DrKirkRare 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: $125Please share with anyone who may qualify. 💜
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🔬 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/DrKirkRare 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: $125Please share with anyone who may qualify. 💜
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🔬 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/DrKirkRare 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: $125Please share with anyone who may qualify. 💜
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🔬 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/DrKirkRare 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: $125Please share with anyone who may qualify. 💜
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🔬 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/DrKirkRare 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: $125Please share with anyone who may qualify. 💜
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🔬 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/DrKirkRare 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: $125Please share with anyone who may qualify. 💜
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🔬 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/DrKirkRare 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: $125Please share with anyone who may qualify. 💜
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🔬 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/DrKirkRare 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: $125Please share with anyone who may qualify. 💜
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🔬 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/DrKirkRare 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: $125Please share with anyone who may qualify. 💜
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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.
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🔬 Paid Research Opportunity: Neurotrophic Keratitis | By Dr. Kirk Adams | Courtesy of the PWD Media Co-op
https://rarepatientvoice.com/rp/DrKirkLiving 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: $30Please share with anyone who may qualify. 💜
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🔬 Paid Research Opportunity: Neurotrophic Keratitis | By Dr. Kirk Adams | Courtesy of the PWD Media Co-op
https://rarepatientvoice.com/rp/DrKirkLiving 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: $30Please share with anyone who may qualify. 💜
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🔬 Paid Research Opportunity: Neurotrophic Keratitis | By Dr. Kirk Adams | Courtesy of the PWD Media Co-op
https://rarepatientvoice.com/rp/DrKirkLiving 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: $30Please share with anyone who may qualify. 💜
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🔬 Paid Research Opportunity: Stargardt Disease | By Dr. Kirk Adams | Courtesy of the PWD Media Co-op
https://rarepatientvoice.com/rp/DrKirkLiving 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: $120Please share with anyone who may qualify. 💜
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🔬 Paid Research Opportunity: Stargardt Disease | By Dr. Kirk Adams | Courtesy of the PWD Media Co-op
https://rarepatientvoice.com/rp/DrKirkLiving 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: $120Please share with anyone who may qualify. 💜
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🔬 Paid Research Opportunity: Stargardt Disease | By Dr. Kirk Adams | Courtesy of the PWD Media Co-op
https://rarepatientvoice.com/rp/DrKirkLiving 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: $120Please share with anyone who may qualify. 💜
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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
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🔬 Paid Research Opportunity: Neurotrophic Keratitis | By Dr. Kirk Adams | Courtesy of the PWD Media Co-op
https://rarepatientvoice.com/rp/DrKirkLiving 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: $30Please share with anyone who may qualify. 💜
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🔬 Paid Research Opportunity: Neurotrophic Keratitis | By Dr. Kirk Adams | Courtesy of the PWD Media Co-op
https://rarepatientvoice.com/rp/DrKirkLiving 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: $30Please share with anyone who may qualify. 💜
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🔬 Paid Research Opportunity: Neurotrophic Keratitis | By Dr. Kirk Adams | Courtesy of the PWD Media Co-op
https://rarepatientvoice.com/rp/DrKirkLiving 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: $30Please share with anyone who may qualify. 💜
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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/
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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
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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
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Microsoft explores AI assistant for diagnosing rare diseases
https://web.brid.gy/r/https://nerds.xyz/2025/09/microsoft-ai-assistant-diagnosing-rare-diseases/
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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!
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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
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CW: Seltene Erkrankung / Rare Disease
Anstrengendes, trauriges, aber auch interessantes und schönes Wochenende bei der deutschen Familienkonferenz von "Hand in Hand gegen Tay-Sachs, Sandhoff und GM2" in Würzburg. Ich darf wieder die Technik machen.
#TaySachs #Sandhoff #GM2 #SelteneErkrankung #RareDisease #Würzburg -
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