Ruby Dawes @RuebenaEDawes
Sydney girl, @AustAmFulbright recipient 2020-2021 with @theFourier2k. PhD @kids_research 2022, now postdoc with @nickywhiffin at @bdi_oxford. Splicing & smORFs! linkedin.com/in/ruebena-daw… Oxford, United Kingdom Joined October 2014-
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Ruby Dawes retweeted
I want to extend a huge thank you to the @nickywhiffin lab for having me this past month to work on various projects using the @GenomicsEngland data. I learned a ton during my time @UniofOxford and continue to drink tea at least 3 times per day. Cheers!
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Ruby Dawes retweeted
Meet the team!! Four of our wonderful team will be presenting in this afternoon's poster session. Please go say hello and chat to them about their work. I may be biased, but they are all awesome! @eloise96wells @elstonndsouza @RuebenaEDawes Hyung Chul Kim #ASHG24 #ASHG2024
Ruby Dawes retweeted
Super proud of @quenchentin for doing a beautiful job in his talk at #ASHG24 #ASHG2024 🤩
Ruby Dawes retweeted
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!
So excited for #ASHG24 ! This'll be my first time attending since pre-pandemic times. Visit me at poster #1070 in the exhibit hall Wednesday 2:30-4:30 pm, to see our work curating high-confidence small Open Reading Frames!
Ruby Dawes retweeted
Excited to share our @Nature paper introducing constraint metrics for #mtDNA! Constraint models are powerful tools that were missing for mtDNA—until now. By applying our model to #gnomAD, we reveal which sites in mtDNA are most crucial for health & disease nature.com/articles/s4158…
Ruby Dawes retweeted
Australia to completely ban the use of genetic information in life and disability insurance. A huge win for the genetic disease community, for research participants and researchers, and for @JaneMTiller and others who tirelessly campaigned for this change! abc.net.au/news/2024-09-1…
Ruby Dawes retweeted
Just 6 days left to apply! Please share!
Ruby Dawes retweeted
Thank you @HHeyne for writing this great news & views piece on RNU4-2 nature.com/articles/d4158… 🧬
Thank you @HHeyne for writing this great news & views piece on RNU4-2 nature.com/articles/d4158… 🧬
Ruby Dawes retweeted
"feeling that like we’ve been on this deserted island for eight years and now all of a sudden, you’re sort of like looking around through the branches of the trees. It’s like, wait a minute, there are other people on this island" ❤️
"feeling that like we’ve been on this deserted island for eight years and now all of a sudden, you’re sort of like looking around through the branches of the trees. It’s like, wait a minute, there are other people on this island" ❤️
Ruby Dawes retweeted
It still boggles my mind that the same de novo mutation at an exact base pair location exists in hundreds to thousands of individuals around the world. On this week post, my thoughts on the new discovery of RNU4-2 gene as a frequent cause of NDDs. gwasstories.com/p/a-noncoding-…
Ruby Dawes retweeted
A global study, including #MCRI researchers, has found mutations in the RNU4-2 gene causes severe neurodevelopmental disorders, paving the way for more accurate genetic tests in the future. | #MedicalResearch #Genomics #DNA More 👉 nature.com/articles/s4158…
Ruby Dawes retweeted
A global collaboration led by scientists at the University of Oxford has discovered that genetic variants in a specific gene cause a rare neurodevelopmental disorder (NDD). theguardian.com/science/articl… @nickywhiffin @GenomesProject @Unique_charity @GenomicsEngland
Ruby Dawes retweeted
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…
Ruby Dawes retweeted
Inarguably the most important human genetics paper of the year, and a landmark moment in the history of neurodevelopmental disorder (NDD) genetics. Mutations in RNU4-2, encoding a small nuclear RNA (snRNA) are among the most frequent genetic causes of NDD, explaining up to 0.4%…
Inarguably the most important human genetics paper of the year, and a landmark moment in the history of neurodevelopmental disorder (NDD) genetics. Mutations in RNU4-2, encoding a small nuclear RNA (snRNA) are among the most frequent genetic causes of NDD, explaining up to 0.4%…
Ruby Dawes retweeted
🤯🤯🤯
Ruby Dawes retweeted
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.
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.
Ruby Dawes retweeted
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.” ❤️
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.” ❤️
Ruby Dawes retweeted
Once in a while you meet a person - that shines bright, that lift others, that is super smart, hard on themselves which pushes them to deliver - I have the privilege of being friends & mentor to @nickywhiffin - she mentors me right back & she is brilliant theguardian.com/science/articl…
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Adam Jackson @adam_jackson89
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lassefolkersen @lassefolkersen
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