I am absolutely delighted to share our work describing a new *recessive* condition caused by variants in #RNU4-2. Yes, that #RNU4-2! tinyurl.com/3j9r56s8 @rociorius.bsky.social @yuyangchen.bsky.social @gregfindlay.bsky.social @dgmacarthur.bsky.social @cassimons.bsky.social @nickywhiffin.bsky.social

Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

Genetic variants in RNU4-2, which encodes U4, a key non-coding small nuclear RNA (snRNA) component of the major spliceosome, were recently shown to cause a prevalent neurodevelopmental disorder (NDD) ...

medrxiv.org

Know a super awesome postdoc who wants to come and work in a gorgeous city full of exciting science and wonderful people? We are recruiting! 💻 🧬🏴󠁧󠁢󠁳󠁣󠁴󠁿 elxw.fa.em3.oraclecloud.com/hcmUI/Candid...

*A new pre-print on increasing gene expression!* 🧬📈 doi.org/10.64898/202...

Modulating splicing in five prime untranslated regions to treat rare haploinsufficient disease

Rare genetic disorders collectively impact over 300 million people worldwide, yet around 95% have no specific treatments. For the many rare disorders caused by haploinsufficiency, effective therapies ...

doi.org

New paper on everyone’s favourite topic, QC! We show why you should do genotype-level QC on your WGS data www.biorxiv.org/content/10.1... Very real quotes about this paper - “The most exciting, mind-blowing paper of the year!” “On a par with Fisher 1918” “I read it every night. Just so beautiful”

Genotype-level quality control substantially reduces error rates in population-scale whole-genome sequencing

Population-scale whole-genome sequencing data will contain many individual-level genotype errors, even after allele-level quality control (QC). We establish the need for genotype-level QC using UK Bio...

biorxiv.org

Duncan is a great mentor! If you are interested in doing a PhD in genomics & stats see the link below for a great opportunity 👀

Duncan Palmer@astheeggeggs.bsky.social · last yr.

Come join us! We have an exciting PhD opportunity in statistical genetics at the University of Oxford. More info here: bit.ly/biomedDPhil 🗓️ App deadline: June 30th 2025. Please share!

Enjoyed the Med Sci DTC symposium yesterday. It was great to share some of my work and catch up with other GMS students 🧬 Thank you @medsci.ox.ac.uk!

A few weeks ago, I had an incredibly emotional call with James Coney, a writer for the Sunday Times whose son Charlie was in the @genomicsengland.bsky.social 100k project and was recently diagnosed with ReNU syndrome. This beautiful article tells their story ❤️ www.thetimes.com/article/0bcc...

My son Charlie — and the breakthrough that changed our lives

James Coney and his wife, Sarah, struggled not knowing why their 12-year-old was born with a severe learning disability. In their darkest moments, they blamed themselves. Then, out of the blue, came a...

thetimes.com

#january Day 7 Less than a month to go until this year’s CPM #ResearchShowcase, with a theme of #PersonalisedPrevention! More details and sign up here, it’s going to be a great day:

Research Showcase - cpm

Personalised prevention aims to tailor preventative health strategies to individual characteristics, for example, genetic, lifestyle or environmental factors. The aim is to prevent or delay the onset…

cpm.ox.ac.uk

I want to extend a huge thank you to the @nickywhiffin.bsky.social lab for having me this past month to work on various projects using the @GenomicsEngland data. I learned a ton during my time @ox.ac.uk and continue to drink tea at least 3 times per day. Cheers!

Excited to announce that my F99/K00 fellowship entitled, “A multi-omics approach to understanding pediatric epilepsies,” was officially funded today! And a huge thank you to @hcmefford.bsky.social for being the greatest mentor ever and always supporting me in these endeavors 🧬🧠 Cheers!

HUGELY EXCITED to be a trainee 🌱 in the MRC CoRE for Therapeutic Genomics! 🧬 Most rare conditions have no effective treatment, together we will work to change this 🚀 www.ukri.org/news/mrc-lau...

MRC launches two £50m centres for cutting-edge gene therapies

MRC is launching its first two Centres of Research Excellence, which will develop transformative new advanced therapeutics for currently untreatable diseases.

ukri.org

Congratulations to @nickywhiffin.bsky.social on being awarded the Balfour Lecturer! Her innovative contributions on the role of genetic variants in rare diseases are shaping the future of research and discovery. We look forward to her inspiring lecture! genetics.org.uk/medals-and-p...

📣 Big news! Our tag-team effort on common variants in rare neurodevelopmental conditions is now out in Nature 📣 Co-first authoring with the brilliant Qinqin Huang🌟—proof that teamwork does make the dream work. 💪 www.nature.com/articles/s41...

a couple of cartoon characters standing next to each other with one wearing a purple earring

Alt: a couple of cartoon characters standing next to each other with one wearing a purple earring

media.tenor.com

Back home and reflecting on a fantastic week at #ASHG24. It was wonderful to reconnect with friends, make new connections, and be surrounded by amazing science! 🧬 This was my first time attending ASHG with many of my amazing team (see below). They did an incredible job representing the group 🥰 1/2