A scientific and personal journey from just 145 base-pairs to thousands of newly diagnosed patients — Computational Rare Disease Genomics In the last two years my science world has been turned completely upside down. The starting point: a discovery in early 2024 of a highly prevalent yet previously unrecognised neurodevelopmental disord...

I wrote a new blog post: www.whiffinlab.org/blog/rnuopat...

Trying to put the past two years of research into snRNA genes and RNUopathies into broader context (even from within the field it is hard to keep up!), with a personal tilt 💙🧬

@renusyndrome.bsky.social #renuSyndrome #rnuopathies

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...

Lecture room at university clinics Essen.

@nickywhiffin.bsky.social presenting her discovery of non-coding #RNA RNU4-2 as a highly frequent cause of epilepsy. Biochemical + population #genetics methods will drive further discovery. Host: @christeldepienne.bsky.social
#ReNUSyndrome #raredisease

🧬ReNU HOPE CONFERENCE SUMMARY FEATURED in the AMERICAN JOURNAL OF MEDICAL GENETICS!!🧬

onlinelibrary.wiley.com/doi/10.1002/...

#ReNUhopeConference
#ReNUsyndrome
#ReNUhope

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

The Genetics Podcast: EP 227: Discovering a new neurodevelopmental syndrome in the non-coding genome with Nicky Whiffin of the University of Oxford This week on The Genetics Podcast, Patrick is joined by Dr. Nicky Whiffin, Associate Professor and Wellcome Career Development Fellow at the Big Data Institute, University of Oxford. They discuss t...

🎙️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

Targeting RNA in Disease with Novel Technologies (TRDNT) Challenge

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

Sisters Team Up to Raise Awareness of a Rare Genetic Syndrome - Cornellians | Cornell University After years of medical struggles, Jessica Margrill ’01 finally got a diagnosis for her son; now, she and Heather ’05 are helping others

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/...

#renusyndrome
#renuhope

Great sessions at the Invest in Cures forum today. Thanks to UCSF and LaunchBio for hosting this amazing event.

#Renusyndrome
#Renuhope

Picture of a wrist with a blue sleeve cuff and three blue bracelets: one with beads spelling 'RENU CREW' one with the words 'ReNU Hope' and the third with 'Je suis ReNU'.

Today I am wearing #blue4ReNU for ReNU Syndrome awareness day 💙

4th February (or 4/2), was chosen by families to reflect the 4-2 in RNU4-2 🧬

ReNU syndrome is a severe neurodevelopmental disorder impacting ~100,000 individuals globally 🧠 🌎 lnkd.in/dvruKxZH

#ReNUSyndrome @renusyndrome.bsky.social

Child Development Research Nutrition and the Microbiome - The Waterloo Foundation The Waterloo Foundation is an independent grant-making Foundation. We are committed to supporting projects that address global inequalities in opportunity and wealth, and those that tackle the…

UK-based research opportunity for #microbiome and #neurodevelopment. DM to explore this for #ReNUsyndrome. Thanks, Waterloo Foundation, for funding this important work. 🦠 🧬 🧠 waterloofoundation.org.uk/childdevelop...

De novo and inherited dominant variants in RNU4-2 and RNU6 paralogs cause retinitis pigmentosa. While these variants aren't associated with #ReNUsyndrome, it further expands our knowledge of snRNAs. Thanks for your work on this,
@mquinodoz.bsky.social, @carlorivolta.bsky.social, et al.

📣 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

Prenatal Evaluation of RNU4-2 Variants in Fetuses With Central Nervous System Anomalies - PubMed Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in…

📣 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

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

Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders - Journal of Human Genetics Journal of Human Genetics - Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders

🧬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...

Thank you @citizen-health.bsky.social for your partnership! 🎉🧬💕

We are excited to accelerate research and ReNU Hope for the future together.

#ReNUsyndrome
#ReNUhope

@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

📣 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

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

Their children have a rare condition. They didn’t know its name – until now. Five families with children who have the newly discovered rare condition, ReNU syndrome, recently gathered in a D.C. park. Scientists believe 100,000 more people have it.

Putting a name to your kid's #RareDisease can be a victory itself. Sometimes, that name doesn't exist.

We're thrilled for the families who helped discover #ReNUSyndrome with experts at @childrensnational.bsky.social, a #NORD Rare Disease Center of Excellence!

www.washingtonpost.com/dc-md-va/202...

🔬The study profiled 145 individuals and identified mutations in 2 additional ncRNA genes causing similar syndromes in 21 individuals

⭐️The discoveries pave the way for faster diagnoses in the future and offer new hope for patients with this severe neurodevelopmental disorder known as #ReNUSyndrome

Gene discovery gives Australian families answers on ReNU syndrome Parents and researchers hope the discovery of a genetic mutation could help find treatments for children living with previously undiagnosed neurodevelopmental disorders.

The remarkable discovery of what could become one of the most prevalent neurodevelopmental disorders worldwide. #ReNUsyndrome #RNU4-2

New Guide Available: ReNU syndrome (RNU4-2) 🧬

We're pleased to announce the release of a new guide on ReNU syndrome, a rare genetic condition that was first reported in 2024. Visit bit.ly/ReNUsyndrome to explore this resource and learn more about ReNU syndrome.

#ReNUSyndrome

New Guide Available: ReNU syndrome (RNU4-2) 🧬

We're pleased to announce the release of a new guide on ReNU syndrome, a rare genetic condition that was first reported in 2024. Visit bit.ly/ReNUsyndrome to explore this resource and learn more about ReNU syndrome.

#ReNUSyndrome