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We are thrilled to announce the publication of a Nature Genetics paper capturing the first #UndiagnosedHackathon for #RareDisease diagnosis, pioneered by Wilhelm Foundation in collaboration with PhenoTips, Udninternational, & Karolinska Institutet UDP. Read the paper: nature.com/articles/s4158…

🎬We are live for the ERDERA kick-off meeting today 🤩Irene Norstedt European Commission highlights Solve-RD as crucial part implemented in the partnerships Clinical Research Network 🙏 @Holmson69 Alexander Hoischen ERN-ITHACA @ERN_RND 🧠 ern euro_nmd _ERNRITA EpiCARE #GENTURIS

🆕Solve-RD publication by German Demidov @SteveLaurie42 & al. published Springer Nature npj Journals Genomic Medicine: 📢Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 🔗 doi.org/10.1038/s41525…

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 tomorrow 1137W!

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. Lydia Sagath Christian Gilissen Alexander Hoischen Solve-RD #ASHG2024

📢New paper out in European Journal of Human Genetics! 🔬An innovative genetic analysis by Hospital Sant Joan de Déu Barcelona ES and CNAG has successfully diagnosed 23 children with neuromuscular diseases, some waited over 8 years for a diagnosis ➡️cnag.eu/news/innovativ…’s-hospital-and-cnag-successfully-diagnoses

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/s4159… A thread (1/n)

And a nice press release about the recent Solve-RD work. Radboudumc Human Genetics Nijmegen, Radboudumc Radboudumc wetenschap radboudumc.nl/en/news-items/…

🚀New paper out in Nature Medicine! 🌟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-…

➡️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's turn, and CNAG will again play a leading role #HopeForRareDiseases #Horizon2020

📢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

Proud Solve-RD and the MOLGENIS UMCG Genetica contributions to Solve-RD reanalysis of 6000+ rare disease families yielding new diagnoses! Read all about it below 👇

Thanks for the nice joint interview with Richarda de Voer @SteveLaurie42 and coverage GenomeWeb! Solve-RD genomeweb.com/sequencing/sol…

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

Thanks for the nice coverage Deutsches Ärzteblatt Solve-RD aerzteblatt.de/nachrichten/15…