Top Tweets for #RAREDISEASE
En enfermedades raras, un test genético negativo no siempre significa ausencia de diagnóstico.
Nueva herramienta open-source (Talos) reanalizó 5.000 casos no resueltos e identificó 241 nuevos diagnósticos.
A veces el problema no es el dato…
#AI #RareDisease #Genomics
@naralokesh We appreciate the Government of Andhra Pradesh for successfully hosting the Rare Disease Stakeholder Conference. Proud that IORD could participate and contribute to this collaborative effort to strengthen the rare disease ecosystem.
#raredisease
@ArogyaAndhra
@satyakumar_y
Real moment from our live session — the kind of day these hoodies were built for. Comfort, dignity, and design for families navigating rare + chronic conditions. Orders now open.
https://t.co/R0xxoxb9iL | https://t.co/pkPnPtawmn
#RareDisease #ChronicIllness #MediXo #12Brand
GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder #RareDisease #Genetics #morbidgene https://t.co/mDunUohUuA
ちょうど1年前、@NatureMedicine は現在公開されたこの原稿の最初のバージョンを受理しました。自動再解析による #raredisease のより迅速なゲノム診断に向けた重要な一歩です。
これが科学の前進の仕方です。最も速いことではなく、厳密であることによって。🧬
Exactly 1 year ago, @NatureMedicine received the first version of this manuscript now published. An important step toward faster genomic diagnoses of #raredisease through automated reanalysis.
This is how science moves forward, not by being the fastest, but by being rigorous.🧬
Add your voice today: https://t.co/yYtqaXEpLx
#MyastheniaGravis #MyastheniaGravisNews #Bionews #MGWarrior #ChronicIllness #RareDisease #PinsAndNeedles #Spasms #Twitching
Leave a ❤️🔥 in the comments if you have a love-hate relationship with doctors. #RareDisease
🎙️Tune into #ONAIR as Mitch Gore welcomes author @TabithaOrth to discuss her touching children's book, Ima Rare. Explore Ima’s adventurous journey through a #raredisease Dx Perfect for all ages. Don't miss this heartfelt episode! Watch 🔗👉: https://t.co/Q668lmQDEZ #Pediatric
Identification of biallelic loss-of-function PREP variants in three individuals with syndromic intellectual disability #RareDisease #Genetics #morbidgene https://t.co/88gJkN0S0q
Further Support of Autosomal Recessive CSF3-Related Severe Congenital Neutropenia #RareDisease #Genetics #morbidgene https://t.co/VPJPjbLjRf
Exactly 1 year ago, @NatureMedicine received the first version of this manuscript now published. An important step toward faster genomic diagnoses of #raredisease through automated reanalysis.
This is how science moves forward, not by being the fastest, but by being rigorous.🧬
LLM-Assisted Reanalysis of Unsolved Rare Disease Genomes Increases Diagnostic Yield
https://t.co/iEpufF9VBd
#Genomics #AI #LLM #RareDisease
Because of Team Rocky Mountain High, hope grows. Every mile and every effort strengthens the ECD community. Thank you for leading the way.
#ECDGA #VirtualFunRun #WalkOrRoll #TeamRockyMountainHigh #RareDisease #ErdheimChesterDisease #TogetherForECD
https://t.co/LFa82HjLCx
🧬A new platform for Bardet-Biedl syndrome tracks 108 clinical manifestations, involves 24 HCP, integrates 28 questionnaires, 8 lab panels, 7 electrophysiological tests &6 imaging studies to standardize follow-up
A blueprint for smarter #raredisease care💙
https://t.co/Ca5gupnR1p
Today, we celebrate our community's power: $38M raised, breakthroughs made, and hope fueled! #WLAM2026 #LAM #CureLAM #LAMAwareness #RareDisease #Spreadtheword
En enfermedades raras, el problema empieza antes del diagnóstico: pedir la prueba genética equivocada.
Nueva herramienta de IA desarrollada en Children’s Hospital of Philadelphia podría ayudar a elegir mejor el test desde el inicio.
Menos odisea
#AI #RareDisease #Genomics
🧬📊 TSHA-102 Progress Presented
Taysha Gene Therapies highlights TSHA-102 progress at the 2026 IRSF Meeting.
👉 https://t.co/vuBcu9j6Bu
#GeneTherapy #RareDisease #ClinicalTrials #Biotech
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