The clinical phenotype of #ReNUsyndrome is still evolving. Thanks to Dr. Stacey Cole from @utah.edu, mitochondrial abnormalities are now on our radar. #ReNUhope
www.sciencedirect.com/science/arti...
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🧬ReNU HOPE CONFERENCE SUMMARY FEATURED in the AMERICAN JOURNAL OF MEDICAL GENETICS!!🧬
onlinelibrary.wiley.com/doi/10.1002/...
#ReNUhopeConference
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#ReNUhope
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Whole-genome sequencing is currently needed to diagnose #renusyndrome, creating significant access issues for families seeking answers. We are committed to reducing barriers and improving equity for those on the #diagnosticodyssey.
#renuhope
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🎙️Tune in to Episode 227 of #TheGeneticsPodcast 🚀featuring @nickywhiffin.bsky.social on the discovery and implications of #ReNUsyndrome.
Available here👇
🎧 eu1.hubs.ly/H0rXt0j0
📽️ eu1.hubs.ly/H0rXsVV0
#renusyndrome
#renuhope
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NIH's Targeting RNA in Disease with Novel Technologies (TRDNT) Challenge is funding novel RNA-targeting technology proposals.
🔗 Learn more & prepare to apply: www.nih.gov/challenges/t....
Want to target ReNU!? Let's chat.
#nih #rnaresearch #raredisease #renusyndrome #renuhope
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ReNU PAG leadership and @cornelluniversity.bsky.social alumni featured in the Cornellians magazine, sharing the story behind founding ReNU Syndrome United and our growing advocacy community. 💙
alumni.cornell.edu/cornellians/...
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#renuhope
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Great sessions at the Invest in Cures forum today. Thanks to UCSF and LaunchBio for hosting this amazing event.
#Renusyndrome
#Renuhope
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📣 Research collaboration alert! Salve Therapeutics has identified peptides that increase AAV binding affinity to neuronal receptors and is seeking a wet lab collaborator for in vitro binding studies. Contact Stefan Lukianov for more info.
www.salvetherapeutics.com/about-us
#ReNUsyndrome
#ReNUhope
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📣 New article alert! First study to recommend systematically checking ReNU4-2 gene in pregnancies with unexplained brain anomalies. pubmed.ncbi.nlm.nih.gov/41449851/ 🧬 🤰
#ReNUsyndrome
#ReNUhope
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CONGRATULATIONS @nickywhiffin.bsky.social from @ox.ac.uk for being named in @thetimes.com for the momentous ReNU syndrome discovery and also to Yuyang Chen and all other incredible researchers involved!! 🎉👏🏻🧬
www.thetimes.com/article/sund...
#ReNUsyndrome
#ReNUhope
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🧬New article: Monoallelic & biallelic RNU4-2 variants in neurodevelopmental disorders🧬
“RNU4-2 variants act in both dominant and recessive manners, and that non-critical regions may also harbor disease-causing variants.”
#ReNUsyndrome
#ReNUhope
www.nature.com/articles/s10...
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Thank you @citizen-health.bsky.social for your partnership! 🎉🧬💕
We are excited to accelerate research and ReNU Hope for the future together.
#ReNUsyndrome
#ReNUhope
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@renusyndrome.bsky.social is joining Citizen Health to help advance research for families affected by #ReNUsyndrome —making it easier to contribute data and move discovery forward from home: www.citizen.health/ai-advocate/...
#RareDisease #PatientAdvocacy #CitizenHealth #AccelerateCures #ReNUhope
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📣 First post alert! 🎉
We just released a CLINICAL COMPANION to provide a clear overview based on the literature to date, bring to doctor appointments, and to share out as needed. Check it out! buff.ly/t3eFTeQ
#ReNUsyndrome #ReNUsyndromeunited #ReNUawareness #ReNUhope
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It was also amazing to hear about the scientific progress - from basic science to work towards ASO therapies 🧬
I left with renewed purpose and motivation, lots of new connections, and a very full heart 💙
Also, an overwhelming feeling that I have the best job in the world 🤓
#ReNUhope #ReNUsyndrome
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