Solve-RD retweeted
Thanks for the nice joint interview with @RMdeVoer @SteveLaurie42 and coverage @GenomeWeb!
@Solve_RD
genomeweb.com/sequencing/sol…
Solve-RD retweeted
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: loom.ly/E--1T4s
Solve-RD retweeted
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 👇
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”
nature.com/articles/s41591-0…
A thread (1/n)
Solve-RD retweeted
And a nice press release about the recent @Solve_RD work.
@radboudumc @GeneticNijmegen @radboudumc_weet
radboudumc.nl/en/news-items/…
Solve-RD retweeted
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”
nature.com/articles/s41591-0…
A thread (1/n)
Solve-RD retweeted
📢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
🔗t.ly/9BPK6
Solve-RD retweeted
➡️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
Solve-RD retweeted
🚀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
📎cnag.eu/news/over-500-patien…
Great news: Our Solve-RD “flagship paper” was just published in @NatureMedicine 🥳 and is available online 👉
nature.com/articles/s41591-0…
@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
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 retweeted
📢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
➡️cnag.eu/news/innovative-gene…’s-hospital-and-cnag-successfully-diagnoses
Solve-RD retweeted
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
Solve-RD retweeted
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!
The Denver Big Blue Bear is ready for five days of thrilling #humangenetics research, and we hope you are, too! Stay connected with us via our mobile app 📲 and view the full meeting agenda: ashg.org/meetings/2024meetin…
Welcome to #ASHG24!
🆕@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
🔗 doi.org/10.1038/s41525-024-0…
🎬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
Solve-RD retweeted
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: nature.com/articles/s41588-0…



















