Yuyang Chen
@quenchentin
PhD student - Computational Rare Disease Genomics group with @nickywhiffin, Big Data Institute, University of Oxford (http://rarediseasegenomics.org)
(1/4) I’m delighted to announce that our research on RNU4-2 is now out on @Nature . This is an exciting finding that will bring many diagnoses worldwide. We have updated some new results since the preprint: nature.com/articles/s4158…
I will be presenting at the #ASHG24 on ReNU syndrome, a newly discovered neurodevelopmental disorder caused by variants in RNU4-2. Hope to see you at the "Beyond Genetic Discoveries: Novel Mechanisms of Neurodevelopmental Disorders" session this Wednesday morning, 8:15-8:30am!
This is such a beautiful paper led by @ChristelDepienn and Caroline Nava, further characterising ReNU syndrome (caused by variants in RNU4-2) and also detailing a role for RNU5B-1 in NDD 🧬 Some highlights 🧵1/8
Thrilled to share a new preprint on the role of RNU4-2 and RNU5B-1 variants in neurodevelopmental disorders, now online in MedRxiv. 1/12 🧵medrxiv.org/content/10.110…
Thrilled to share a new preprint on the role of RNU4-2 and RNU5B-1 variants in neurodevelopmental disorders, now online in MedRxiv. 1/12 🧵medrxiv.org/content/10.110…
At UNC, I took a Design Thinking for the Public Good class, and this inspired me to try & pivot into rare disease genetics/ genomics for the next step of my career 😊 I was so excited to interview @quenchentin of the @nickywhiffin lab for this! See y’all @GeneticsSociety? 🤔👀
Inclusive, human-centered design maximizes accessibility for the full range of human diversity 🌍 and should be prioritized in the scientific process 🔬 -- GeneBites Deputy Editor ✏️ JP Flores (@jpflores_31) on rare disease research Check it out here: genebites.org/2024/08/15/exp…
“ReNU syndrome” (pronounced ‘renew’) A name chosen by family groups for the syndrome associated with variants in RNU4-2. It symbolises the renewed hope for a brighter future for families on receiving this diagnosis. Disease / syndrome naming is hard : a short 🧵
I wrote a blog post to break down the science behind RNU4-2 in a way that families could understand: rarediseasegenomics.org/blog/rnu4-2-th… Key lesson: truly lay writing is incredibly important, but also super hard (this took me a while!) If you have any RNU4-2 families, please do share!
Write up by the fantastic Laura Borg @OxPaediatrics featuring @swynn_unique, @quenchentin, Stephan Sanders, Suzi Walker, @CSOSue, and Jessica and Nicole, two wonderful RNU4-2 mums. Lovely pic of Nicole with 10-year-old Mia Joy ❤️ paediatrics.ox.ac.uk/news/new-disco…
I really love this quote too - it really makes me feel that our research is making positive impact to others, and it continues to motivate me.
A lovely piece on the impact of our work by @iansample @guardian including a lovely quote from an RNU4-2 mum: "This where the data meets real life. We like to refer to RNU4-2 as “renew”, as our family is being renewed by this new information and hope for the future.” ❤️
Extremely happy to receive the Early Career Award on ESHG 2024 on our work on RNU4-2. A huge thank you to everyone involved for your contributions!
Excited to be at #eshg2024 in Berlin and looking forward to catching-up with everyone! Also very excited for three incredible members of the team to share their awesome work: @quenchentin , @eloise96wells , and @Alextremophile . Details👇
Thrilled to share our latest discovery on a spliceosomal snRNA gene causing neurodevelopmental disorders: medrxiv.org/content/10.110… Thank you to everyone who contributed; it’s been a phenomenal effort to collaborate with clinicians and researchers for what would help many families!