Thanks for the nice coverage @Dt_Aerzteblatt @Solve_RD https://t.co/8HSAGlQm1e

Thanks for the nice joint interview with @RMdeVoer @SteveLaurie42 and coverage @GenomeWeb! @Solve_RD https://t.co/9dt9qH3hfK

Rare disease patients often face years without answers. Thanks to @Solve_RD, 500+ new diagnoses were made by reanalysing data for 6,447 patients. 🚀 Now, ERDERA aims to analyse 100,000 cases with advanced tech! 📖 Read the article: https://t.co/CCCJJpC7AM

Proud @Solve_RD and the @molgenis @UMCGgenetica contributions to Solve-RD reanalysis of 6000+ rare disease families yielding new diagnoses! Read all about it below 👇

And a nice press release about the recent @Solve_RD work. @radboudumc @GeneticNijmegen @radboudumc_weet https://t.co/kwJdyJG09H

It’s a privilege to announce Solve-RD’s latest manuscript based on years of work: “Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses” https://t.co/fSU1h9TDoR A thread (1/n)

📢Over 500 patients diagnosed thanks to genomic reanalysis — a milestone for rare disease research! #EUfunded project @Solve_RD showcases how multidisciplinary & multinational research collaboration delivers results for people living with #rarediseases 🔗 https://t.co/2KyU7KmIot

➡️All in all, a successful story in rare disease research under the umbrella of @Solve_RD, which has laid a solid foundation for helping more families find their diagnosis Now it's @ERDERA_org's turn, and CNAG will again play a leading role #HopeForRareDiseases #Horizon2020

🚀New paper out in @NatureMedicine! 🌟Over 500 patients receive a diagnosis in a historic milestone for rare disease research in Europe This groundbreaking effort, part of @Solve_RD, was led by the CNAG reseachers @SteveLaurie42 and Sergi Beltran 📎 https://t.co/aanThQUQeh

Thanks to all who contributed to this major effort 🥂 @ERN_RND @euro_nmd @ERNIthaca #Genturis @SteveLaurie42 @SteyaertWouter @b_elked @kinnudreamz @an_somm_a @ahoischen @LisenkaVissers @anatopf @RMdeVoer @LeslieMatalonga @NicolineHoogerb @TeresinhaEvange @gilissenc

@Solve_RD serves as a blueprint for future international efforts e.g. in @ERDERA_org Diagnostic Research Workstream. @Solve_RD data is open to the global RD community, allowing phenotype, variant & gene queries, as well as genome-wide discoveries @ConnectRD @cnag_eu @EGAarchive

Our @Solve_RD researchers reanalyzed genome data of 6,447 patients & 3,197 unaffected family members ➡️ 506 patients & their families received a diagnosis! For 15% of the patients, there are leads for actionability, in some including #treatment options.

@Solve_RD demonstrates the significance of international collaboration to address the unmet medical needs of #RareDisease diagnosis & involves >300 clinicians, laboratory geneticists & translational researchers from 43 research groups ass. w/ 37 institutes in 🇪🇺 and 🇨🇦

Great news: Our Solve-RD “flagship paper” was just published in @NatureMedicine 🥳 and is available online 👉 https://t.co/hctplzvIgH

📢New paper out in @ejhg_journal! 🔬An innovative genetic analysis by @SJDbarcelona_es and CNAG has successfully diagnosed 23 children with neuromuscular diseases, some waited over 8 years for a diagnosis ➡️ https://t.co/cGnIr4hhMW’s-hospital-and-cnag-successfully-diagnoses

I am proud and happy to present our latest Solve-RD research work at ASHG2024! Long-read sequencing in 114 undiagnosed rare disease families yields 13 novel genetic diagnoses. Poster 3076 at 2. 30 pm. @lydiasagath @gilissenc @ahoischen @Solve_RD #ASHG2024

Excited to be back to the #ASHG24 and present our work in RNA-seq for rare disease diagnostics in the European Consortium @Solve_RD and the ideas for the follow up @ERDERA_org tomorrow 1137W!

🆕@Solve_RD publication by German Demidov @SteveLaurie42 & al. published @SpringerNature @Nature_NPJ Genomic Medicine: 📢Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 🔗

🎬We are live for the @ERDERA_org kick-off meeting today 🤩@IreneNorstedt @EU_Commission highlights @Solve_RD as crucial part implemented in the partnerships Clinical Research Network 🙏 @Holmson69 @ahoischen @ERNIthaca @ERN_RND @euro_nmd @_ERNRITA @EpiCARE_ERN #GENTURIS

We are thrilled to announce the publication of a @NatureGenet paper capturing the first #UndiagnosedHackathon for #RareDisease diagnosis, pioneered by @WilhelmFound in collaboration with PhenoTips, @UDNIss, & @karolinskainst UDP. Read the paper: https://t.co/zSxYreyTZj