🔥The 9th Round of Easy Loan, Earn $40 Reward is in progress❗️ ⏰ Promotion Period: January 15th - Feburary 15th, 2025 👉 Register now and check more details at gate.io/campaigns/358

Fully funded PhD project with us Biology at York and Kurt De Vos Neuroscience Institute using iPSCs and in vivo #zebrafish models to study TMEM106B in neurodegeneration. International students eligible! findaphd.com/phds/project/m…

This British Neuroscience Association event is going to be a brilliant symposium and free for our undergraduate members. Please join us if you can!

Our new research article is out in European Journal of Human Genetics! rdcu.be/d1rI4. Inside we explore the congenital heart disease cohorts of the 100,000 genomes project. Colin A Johnson Sunayna Best Steph Baross Jenny Lord Keavney Lab Gavin Ryan Jacqueline Eason @kathrynhentges

Excited to advertise PhD projects 1-neuronal 1-DiMeN DTP lncRNA-derived micropeptides & role in brain cancers (with Lucy Stead James Poulter) 2- @BBSRCWhiteRose mechanisms of translational regulation by specialised ribosomes (Chris H. Hill Whitehouse Lab) findaphd.com/phds/?Keywords…

For a seasonal treat why not check out our fantastic interview with Leeds Teaching Hospitals Dr Lydia Green who researches Inherited White Matter Disorders & leads the highly specialised Leukodystrophy Service #TheRoadToGenome Rare Disease @ Leeds Leeds Clinical Genetics Listen: eu1.hubs.ly/H0fwTJS0

📢 Calling all early-career researchers Do you want to: 🟠 develop your research identity 🟠 work on groundbreaking projects 🟠 gain leadership skills? Our Early-Career Award is for you. Apply by 25 Feb 2025 ➡️ wellcome.org/grant-funding/…

Do you have #iPSCs culture and differentiation skills and want to combine this with in vivo #zebrafish model, live imaging, -omics and a fun environment? Please apply to our 3-year MRC funded PDRA post at Biology at York York Biomedical Research Institute jobs.york.ac.uk/vacancy/resear…

There is still time to apply! #zebrafish and/or #iPSCs graduates, this is for you 👇

💜🌍 Today is Rare Disease Day! 🌍💜 Together, we stand with the 300 million people worldwide living with rare diseases. In uniting on this day we can raise awareness, advocate for change, and promote a more equitable future! ⚖️ Learn more: rarediseaseday.org

A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes hubs.li/Q03c3sRm0 James Poulter & colleagues AJHG collection highlight ASHG

Registration for online only participation now possible! Can`t join us in Milan? We got you! Register now for a reduced flat fee for online only participation & follow all sessions in the livestream & on demand for 6 months after the congresss! More info: 2025.eshg.org/registration/

It's #UndiagnosedChildrensDay! 🥳 🤩 Having a child with an #undiagnosed #genetic condition is lonely and isolating, with families having more questions than answers about what the future holds. Please share this post to help more families find SWAN UK! ow.ly/kuGJ50VHzPz

Our team at Leeds Clinical Genomics are looking to recruit 2 Consultant Geneticists. We are a friendly and supportive team, working in beautiful Yorkshire. jobs.nhs.uk/candidate/joba…. Please get in contact if you would like more information.

UK contribution towards improving treatment choices for VEXAS syndrome. We urgently need prospective RCTs! Treatment outcomes in patients with VEXAS syndrome: a retrospective co... sciencedirect.com/science/articl…

🚀Check out this recent publication from the mTOR Pathway Diseases node - Challenges and opportunities from bench to bedside and the mTOR node tinyurl.com/mTORnode Joseph Bateman Charlotte Tye

NEW RESEARCH—A retrospective cohort study from the UK reports treatment outcomes of targeted therapies in patients with #VEXAS syndrome thelancet.com/journals/lanrh… Taryn Youngstein James Poulter

Treatment outcomes in VEXAS syndrome: response is in the eye of the definer Linked Comment by Matthew Koster Mayo Clinic thelancet.com/journals/lanrh…

We are excited to share our new paper out today in Nature Genetics which explores de novo mutations in DNA secondary structure and identifies two novel #diseasegenes nature.com/articles/s4158…

Please to share our comprehensive review of Clinical Features in VEXAS syndrome: a systematic review academic.oup.com/rheumatology/a…

It was pleasure to record a podcast about our recent paper on VEXAS treatment outcomes in the UK. If you interested to hear more please follow the link: In conversation with... Sinisa Savic thelancet.com/doi/story/10.1…