Our group are away from the hospital today for the annual RDM Oxford day!

If you’re attending be sure to stop by our DPhil student Isaac Walton’s poster on mouse modelling of ZIC1-associated craniosynostosis 🐭🧬

We make recommendations for the management of speech, language, hearing and feeding 9/9: journals.lww.com/jcraniofacials…

🚨New paper alert! 🚨 The latest publication from the Oxford Craniofacial Unit speech and language therapy team investigated speech, language, hearing and feeding in patients with Crouzon Syndrome with Acanthosis Nigricans (CAN)….🧵1/9

Lab alumnus Yang Pei is today presenting part of his DPhil work in the NHS Central and South Genomics Long Read Case Detectives Event: 'Characterising clinically relevant structural variants using Bionano optical genome mapping'

Our lab is out in force for this conference, with Steve Twigg, Lisa, and Isaac Walton off to Barcelona in May - for those planning on joining us, the abstract deadline is soon!

It is a pleasure to highlight the importance of #RecognisingFacialPalsy this #FPAW2024 #MySLTDay Giving Voice

Tonight, we are shining a light on Magdalen College to raise awareness for the 400 million people living with #raredisease . To address unmet need in rare disease, we drive cutting-edge breakthroughs to clinical impact for patients #RareDiseaseDay2024

🚨 IT’S RARE DISEASE DAY! 🚨

For #RareDiseaseDay 2024 we're highlighting key facts and figures to educate change makers on the shared challenges of our community. Alongside these we will share the #StoriesBehindTheStats .

👉 ow.ly/4j7E50QIXEY

The Congenital Anomalies Cluster MRC National Mouse Genetics Network aims to create precisely engineered mouse models of patient variants to help clinicians establish genetic diagnoses and drive understanding of the mechanisms underlying congenital anomalies. Find out more:
thenode.biologists.com/understanding-…

Understanding Variants of Uncertain Significance in Congenital Anomalies. Submit your clinically relevant variant(s) through our portal. thenode.biologists.com/understanding-… via the Node

🧬🚨 New paper alert! 🚨🧬

Published in JMG, collaborative work involving Isaac Walton, Chingyiu Pang, and Andrew Wilkie from the MRC WIMM reports the first two #craniosynostosis patients with homozygous variants in #SMAD6 .

jmg.bmj.com/content/early/…

🧵⬇️ (1/10)

Fantastic to be back at Royal Institution for the Pride In STEM big rainbow quiz hosted by Dr. Alfredo Carpineti 🏳️‍🌈🏳️‍⚧️! Brilliant evening in a brilliant place

We have lots of great events coming up!
14th March - talk from Dr Ali Kay 🧬📚🌳 and Anne Goriely, 'Can it happen again? Informing pregnancy decisions using personalised risk information', taking place St Anne's College.
Register here to attend: cpm.ox.ac.uk/event/pregcare…

Thrilled to see the first paper I've ever co-authored out now in JMG! It's the first sliver of my DPhil research to make it into the literature, with hopefully more to follow soon... Exciting times!