#raredisease — Public Fediverse posts

https://www.europesays.com/ie/681410/ Blood protein profiling could improve rare disease diagnosis #blood #Éire #ExomeSequencing #Gene #Genes #Genetic #GeneticInformation #Genome #Genomic #genomics #Healthcare #IE #Ireland #Laboratory #medicine #Protein #Proteomics #RareDisease #Research #Science

https://www.europesays.com/ch/127437/ Novartis sees another setback, this time with neuromuscular drug #DrugDevelopment #Novartis #Pharmaceuticals #RareDisease #STAT+

https://www.europesays.com/ie/551151/ Gene therapy shows promise against deadly childhood liver disease #Arthrogryposis #Bile #cancer #Charity #ChildHealth #children #Éire #Gene #GeneTherapy #Genes #Genetic #GeneticDisorder #Health #hospital #IE #Ireland #Liver #LiverDisease #Protein #RareDisease #Research #Syndrome #therapy

https://www.europesays.com/ie/543483/ Gene therapy successfully treats deadly childhood liver disease in mice #Arthrogryposis #Bile #cancer #ChildHealth #children #Efficacy #Éire #Gene #GeneTherapy #Genes #Genetic #GeneticDisorder #Health #hospital #IE #InVivo #Ireland #Liver #LiverDisease #Protein #RareDisease #Research #Syndrome #therapy

Ca ghép gan bất đồng nhóm máu đầu tiên ở người lớn tại Bệnh viện 108 đã cứu sống một cô gái 20 tuổi mắc bệnh hiếm. Người bố đã hiến gan cho con gái mình. Đây là một tin vui lớn, mở ra hy vọng cho nhiều bệnh nhân đang chờ ghép gan.

#ghép_gan #bệnh_hiếm #hiến_tạng #vietnam #transplant #livertransplant #raredisease #organ捐赠 #Việt_Nam

https://vtcnews.vn/bo-hien-gan-cuu-con-gai-20-tuoi-du-nhom-mau-khong-phu-hop-ar989531.html

Ca ghép gan bất đồng nhóm máu đầu tiên ở người lớn tại Bệnh viện 108 đã cứu sống một cô gái 20 tuổi mắc bệnh hiếm. Người bố đã hiến gan cho con gái mình. Đây là một tin vui lớn, mở ra hy vọng cho nhiều bệnh nhân đang chờ ghép gan.

#ghép_gan #bệnh_hiếm #hiến_tạng #vietnam #transplant #livertransplant #raredisease #organ捐赠 #Việt_Nam

https://vtcnews.vn/bo-hien-gan-cuu-con-gai-20-tuoi-du-nhom-mau-khong-phu-hop-ar989531.html

Microsoft explores AI assistant for diagnosing rare diseases

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

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

Clearly, there is still much to learn about this corner of the dark genome defined by HEATR5 proteins and their co-factors.

#Biorxiv #Preprint #MembraneTraffic #DarkGenome #DarkProteome #RareDisease #AlphaFold #AlphaFold2 #ProteinPrediction #Golgi #Clathrin #CellBiology #biochemistry #Bioscience

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

@SimoneDusseljee

Welcome to #ScienceMastodon, Simone!
Great to connect with you here! :happy:

Don't forget to follow: @cilia

#NewHere #Cilia #raredisease #Ciliopathies #Sciencefediverse #Science

@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

@greg_pazour

Wonderful to see you here, Greg! A warm welcome to #ScienceMastodon and the expanding #ciliverse ! 🙂 🙂 🙂

#Cilia #raredisease #cellbiology #NewHere #Sciencefediverse