Suzanne de Bruijn

🚨New paper alert!🚨 We identified known and novel RP17 structural variants in dominant RP families from Germany, Australia, and US🌍 This suggests that screening for RP17 variants should be a part of routine genetic testing for RP (1/3) read here --> frontiersin.org/journals/genet…

Thank you to all collaborators and patients that have been involved, and congratulations to the RP17 dream team @SusanneRoosing, @MikeCheetham2 @AJ_Hardcastle and the rest of the team (3/3)

We have established a multistep and high-throughput approach for the identification of structural variants underlying retinitis pigmentosa type 17 (RP17) 🧬 If you have unsolved dominant RP cases and are interested in submitting samples for free RP17-screening, contact me! (2/3)

🚨New paper alert!🚨 We identified known and novel RP17 structural variants in dominant RP families from Germany, Australia, and US🌍 This suggests that screening for RP17 variants should be a part of routine genetic testing for RP (1/3) read here --> frontiersin.org/journals/genet…

Great project + great team = great opportunity! 🧬🔬

Very happy and proud to share that I have been awarded a Veni grant! I am grateful for all the support and trust I received from my colleagues in the past few months and to @ZonMw for providing this opportunity. I am extremely motivated to start working on this exciting project!

@ahoischen Congratulations!! Very well deserved!

Thanks to my incredible team! Impossible without you!

We are hiring! Check out the 10 #PhDjobs on progret.eu @Euraxess: lnkd.in/eCNwnv5nProgRET @ProgRET_MSCA is a @MSCActions Doctoral Network to Understand, Diagnose and Treat Autosomal Dominant Retinal Diseases, offering 10 PhD positions in 7 EU countries, 2024-2027 👇

📢 We are hiring 📢 #ProgRET is @MSCActions network (progret.eu) aiming to train a new generation of vision researchers specialising in inherited retinal diseases! 👁️Job offer: 10 PhD positions! @phdjobs @phdjobshub

We're hiring a Research Assistant to join @AJ_Hardcastle. The ideal candidate will have a background in mechanisms of neurodegeneration, genetics, and retinal cell biology. Apply today! Closing date 9 August. #research #ophthalmology #nowhiring buff.ly/3OfJk5R

⚠️ 📣 Finally our preprint is available!🥳 Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease medrxiv.org/content/10.110… 👇

@DelpoMarta Congratulations! 🥳 Can’t wait to read it!

Very honored and grateful to have been given this opportunity by @RNID I am very motivated to get started with this new project and to start hunting for novel mutations underlying inherited hearing loss! 🧬🧩

@AJ_Hardcastle Great talk! 👏🏻👏🏻

Missed my poster earlier? I will be there presenting my work 5-7pm during the poster award session in the MIT lounge!

Come see my poster B0115 this afternoon and learn more about the CYMD/DCMD mystery! #genetics #retinal diseases #ARVO2023

𝐌𝐮𝐭𝐚𝐭𝐢𝐞 𝐯𝐞𝐫𝐨𝐨𝐫𝐳𝐚𝐚𝐤𝐭 𝐰𝐞𝐥 - 𝐧𝐢𝐞𝐭 - 𝐰𝐞𝐥 𝐛𝐥𝐢𝐧𝐝𝐡𝐞𝐢𝐝. Janine Reurink beslidt langdurig controverse met grote gevolgen voor de zorg Een promotieonderzoek met ‘𝐢𝐦𝐩𝐚𝐜𝐭 𝐨𝐧 𝐡𝐞𝐚𝐥𝐭𝐡𝐜𝐚𝐫𝐞’ @radboudumc_weet ushersyndroom.nl/mutatie-veroor…

a BIG thank you to all co-authors and funders: Kim Rodenburg, @SusanneRoosing @nevelingk @ahoischen @bionanogenomics @EJPRareDiseases SOLVE-RET

📢Structural variants: Gonna catch 'em all!📢 How common are SVs in retinal disease and what is the best way to identify and interpret them using short-read genome data? Read all about it in our latest paper: gimjournal.org/article/S1098-… @GeneticNijmegen @GIMJournal #WGS #Retina #SV

Amazing work by @hela_azaiez and @milesklimara exposes the important contribution of de novo variants to #genetic #HearingLoss. "DNVs are a common cause of HL, accounting for at least ~1% of all genetic diagnoses, ~2% of ADNSHL, and ~6% of ADSHL." authors.elsevier.com/a/1fsHl3vlFUye…

Wil jij ook een mooie DNA armband maken maar heb je vandaag je kans gemist? Kom dan morgen langs bij dag2 van #WvdW22 waar we ook aanwezig zullen zijn bij de open dag van het Radboudumc! #DNAdetective @GeneticNijmegen @radboudumc_weet @DondersInst