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p.(Cys759Phe) in USH2A in a homozygous state IS pathogenic!! Our latest publication has the evidence! Work by my PhD-student Janine Reurink and in collaboration with Dr. Erwin van Wijk! A big thank you to all co-authors #ushersyndrome #USH2A #retina rdcu.be/cPdgx

A discovery made as part of research funded by Retina UK has led to a prestigious award of $2.5 million. Read in full at: bit.ly/3PnnAmW

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 Human Genetics Nijmegen, Radboudumc Radboudumc wetenschap Donders Institute

Amazing work by Hela Azaiez and Miles Klimara 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…

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

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

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

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! 🧬🧩

We're hiring a Research Assistant to join AlisonHardcastle. 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

📢 We are hiring 📢 #ProgRET is Marie Skłodowska-Curie Actions network (progret.eu) aiming to train a new generation of vision researchers specialising in inherited retinal diseases! 👁️Job offer: 10 PhD positions! PhdJobs.com PhD Jobs Hub

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

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!

Great project + great team = great opportunity! 🧬🔬