🚀 Very excited to share the first major work from my PhD!! We combined MPRA and CRISPRa in excitatory neurons to test and validate cis-regulation therapies for hundreds of haploinsufficient neurodevelopmental disorder genes. 🧬🔬 www.biorxiv.org/content/10.1...

Read about our recent paper here: www.bdi.ox.ac.uk/news/first-d...

✨ NEW PUBLICATION ✨ We combined large-scale human genetics with CRISPR-Cas9 editing in fat cells to identify genes linked to fat accumulation. Check out the full study, now published in AJHG! www.cell.com/ajhg/fulltex...

New app deadline August 1st 📣 If you're interested in human genetics, stats, big data, and/or ML, this is in an incredible opportunity 🧬💻 ✨Fully funded ✨ PhD at Oxford with @astheeggeggs.bsky.social, available to international students 🌎🌍🌏, embedded in the new and exciting SMARTBiomed Centre 🤩

Incredible opportunity for international and domestic students to do a PhD in stat gen at Oxford in a dynamic, engaging, fun and supportive environment! 🤩🧬🎓 Apply by June 30th for an October 2025 start!

It's #eshg2025 #eshg25 time 🥳 Here is where you can catch the team over the next few days. Please go and say hi!

Our gene discovery project on age at onset of walking is out today! Find the paper here www.nature.com/articles/s41... Huge thanks to the cohorts, collaborators & coauthors, in particular first author Dr Anna Gui 1/n

Very excited about this important piece of work with @angelicaronald.bsky.social characterising gene associations with age of walking onset. We also show using dHCP data that these are related to volume in key brain motor regions (like the deep grey nuclei and cerebellum) even as a newborn infant

We have two vacancies for Junior Research Fellows to join the CPM team next academic year. Please repost and send to anyone who might be interested. shorturl.at/DOV5s

Delighted to share that the revised version of this work on the genetic basis of infertility is now out in @naturegenet.bsky.social ! Give it a read and let us know what you think - rdcu.be/ehEgG 🧬💻

This is going to be a great lecture, do come along to the Sheldonian this afternoon to hear @philipcball.bsky.social

I’m racing a Half Ironman triathlon this June. 2km swim, 90km cycle, 20km run and raising money for the Meningitis Research Foundation. Meningitis has ~2.5 million cases and 250,000 deaths annually predominantly among children. Any donation would be great! gofund.me/a958252f

V. pleased to see this work out — huge effort from 10s of analysts, 100s of scientists, 1000000s of participants. 🤞 a key resource in future MDD research. 🤲 to @markjamesadams.bsky.social, @mcintosh2001.bsky.social and @cathrynlewis.bsky.social for leading. Read all about it below.

Ever get lost searching through genetic literature? We've built a new interface for bioRxiv+medRxiv to directly browse preprint findings on the genome! (1/N) Try genorxiv: sitlabs.org/genorxiv

Meet Michael Griffiths, our most recent featured member. Currently a Data Manager in the Sanders Group, Michael's varied career includes writing code on research vessels around the world to help understand the effects of oceans on the climate. Find out more here: lnkd.in/erJXmd6k

📢 Huge News! 📢 The MRC has launched two centres of research excellence to transform gene therapies: IDRM’s Paul Riley will co-direct the MRC/BHF CoRE in Advanced Cardiac Therapies & Stephan Sanders will direct the MRC CoRE in Therapeutic Genomics. Read more: lnkd.in/g-3CmAsP #GeneTherapies

A mere starting point, we're sure. Please use, and add to. go.bsky.app/KuUsm35

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...

Honoured to be recognised by @gensocuk.bsky.social and humbled to be named alongside so many incredible geneticists 🤯🧬 But science is a team sport: this is really down to, and for, my absolutely incredible team who inspire, drive, and motivate me every day 🌟 #teamWork #youGuysRock 1/2

Common variants don’t contribute to rare diseases, right? Wrong! Wonderful work published in Nature by @hilarycmartin.bsky.social, Qinqin Huang, @emiliewigdor.bsky.social and others in the Human Genetics Programme at Sanger showing that common vars contribute to rare neurodevelopmental diseases.

Great to see this paper out in Nature today! One aspect that I worked on was the curious result that the education polygenic score predicts neurodevelopmental conditions but this prediction disappears within family.

Common genetic variants contribute more to rare diseases than previously thought www.nature.com/articles/d41... (note that the converse is also true!!!)

This was an important new step in making scientific research findings more accessible to the people whose data was powering the discoveries 🏆 It takes time, but it's so valuable for all involved. Bravo!

I'm here now! Excited to share our latest research published in @Nature 🎉 Huge thanks to my amazing supervisor @hilsomartin and co-first @EmilieWigdor for their incredible support!

📣 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...

Working with @doctorgene.bsky.social we hope to integrate the genetics of brain scans and neuropsychiatric to identify potential drug targets. See: www.medschl.cam.ac.uk/integrating-... Apply: www.postgraduate.study.cam.ac.uk/courses/dire... Deadline: Dec 3

It's PhD application season here in Oxford with two weeks until the deadlines (3rd Dec) @universityofoxford.bsky.social Here is a short 🧵 highlighting 3 amazing programs in the genomics, data science, statistics space 🩺🖥️🧬 Please share with anyone you think would be interested! 1/4