🔥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

How well informed are your child's teachers about their rare chromosome or gene disorder? bit.ly/UniqueSurvey20…

Thank you Professor John Sayer, academic nephrologist and renal consultant, for coming to Manchester to give a fascinating talk on renal ciliopathies! You can read more: ncbi.nlm.nih.gov/pmc/articles/P…

DECIPHER version 11.27 has been released. See the new features at deciphergenomics.org #variantinterpretation

Apologies, our server is down and this means new families can't join today. We hope it will be fixed very soon and will let you know!

Our sign up page is back up and running - thanks for your patience! Lots of space still remaining to join our efforts to improve genetic neurodevelopmental research

Pseudo-natural history made from dozens of DDD patients with the same genetic condition, expertly done by Karen Low. Highlights phenotype variability and differences in onward referrals, see doi.org/10.1016/j.gimo…

Plans to continue this work with the GenROC cohort - more to come, watch this space!

Really enjoyed this lovely conversation with two very excellent ladies :)

#PhD #funded Fully funded PhD in my group Faculty of Health | University of Sheffield Sheffield Uni - Clinical Medicine 🦠 💉 🫀💙🔬🩺 working on #hnrnp #hnrnpu. Thanks to generous funding from HNRNP Family Foundation BetterFuture4U. Please repost as deadline 31st Jan 2025. Sheffield Children's SCYPHeR Initiative findaphd.com/phds/project/d…

All researchers and clinicians working in rare disease should read this excellent white paper- essential reflections for future working if we hope to be successful in delivering meaningful clinical trials for patients with impact

ExeterGenomes are celebrating!! The team in Exeter have been delivering diagnoses for children with rare genetic diseases since 2013. Initially as exomes, now thriving as a national rapid genome sequencing service (R14). We've just passed our 9000th family 😮🎉🥳 South West Genomic Laboratory Hub

Check out this paper describing the phenotype and spectrum in TAOK related disorders from an excellent up and coming geneticist @NourElkhateeb14 and from the inspiring Meena Balasubramanian group

Feeling disproportionately proud that despite my middle age I have coded in shiny for the first time today and got something to output. Excited about possible applications for GenROC!

GenROC has been open for almost 2 years. We will close to new participants in 4 days but there is still space so don't miss out....And you have until the end of March to complete questionnaires

Fully funded PhD studentship available with me and Meena Balasubramanian The University of Sheffield investigating novel causes of rare disease using bioinformatics and big data sets! Application deadline 28th March. Faculty of Health | University of Sheffield SCYPHeR Initiative findaphd.com/phds/project/s…

Behaviour concerns are frequently reported in genetic neurodevelopmental conditions. This checklist might provide some practical help. Parents and clinicians can attend this event to learn more.

There are many rare conditions, but few with treatments to help. We want to change this. Read our colleague Dan O'Connor's blog on the Rare Therapies Launchpad and how it might improve access to personalised therapies bit.ly/433EPUP #RareDiseaseDay2025 Genetic Alliance UK

Support, knowledge & community can change lives. Swipe to read heartfelt stories from some of the brilliant scientists, geneticists & doctors we have had the fortune to work with. Our work extends globally, offering resources on rare chromosome and gene disorders.