Genomics England

Rare conditions are individually rare, but collectively common, with over 3.5 million people living with a rare condition in the UK. Today is Rare Disease Day, and the theme for this year is 'more than you can imagine', which aims to highlight the individual experience of rare conditions and the impact they can have on a person's sense of self, relationships and wellbeing. We have collated stories, blogs, podcasts and helpful resources, available via the link below and will be sharing content throughout the day. Stay up to date via the hashtags #RareDiseaseDay and #MoreThanYouCanImagine. Link to our Rare Disease Day webpage: https://ow.ly/ZW0m50UZgUe

Exciting news! 🎉 Our latest work is now published in Nature! 🧬 In this study, we used GeneBurdenRD, a rare-variant gene burden analytical framework, to analyze protein-coding variants from 34,851 rare disease patients and their families in the 100,000 Genomes Project - leading to the discovery of 69 novel gene-disease associations, including 30 with existing experimental evidence identified via clinical expert review. 💡 Check out the candidate genes we identified and learn more in the Open Access publication: https://lnkd.in/d3WBge4n A huge thank you to Damian Smedley, co-first author Valentina Cipriani, The Monarch Initiative, Genomics England, and most importantly, the patients and families who participated in the 100,000 Genomes Project. ✨ #RareDisease #Genomics #100KGenomes #GeneBurdenRD

In this special Rare Disease Day episode, we explore how collaboration between families, clinicians, researchers, and regulators is shaping the future of rare condition therapies. With insights from Myotubular Trust, we follow the journey of family-led patient communities and the incredible progress they’ve made on advancing novel therapies for myotubular myopathy. However, not every family has the resources to lead research efforts, highlighting the need for broader initiatives like the UK Platform for Nucleic Acid Therapies (UPNAT), which aims to streamline treatment development and ensure access for all. Tune in as our guests discuss how these collaborations are driving faster diagnoses, equitable access to treatments, and groundbreaking innovations in rare condition therapies. Tune in here: https://ow.ly/4UlK50V6J3U #RareDiseaseDay Carlo Rinaldi Anne Lennox

We will be at the Crick Rare Diseases Conference at The Crick on 3 March. Come and say hello to the team at our stand, and find out more about our Research Network. Find out more about the event here: https://ow.ly/TWT050V20Th The Francis Crick Institute #CrickRareDiseases

Nearly 90% of people would take a genetic test to ensure their medications work effectively and reduce the risk of side effects, according to the first national survey of public attitudes towards pharmacogenomic testing. Read the full story: https://ow.ly/Jl1p50V3wnB

Revisit our podcast episode from last year, where Julia Vitarello shared her daughter Mila's story. Our guests discussed the challenges of living with a rare condition, and the work being done to support those affected by rare conditions in the genomics ecosystem. Tune in here: https://ow.ly/h4fh50V04Z7 #RareDiseaseDay Mila's Miracle Foundation

New Guide Available: ReNU syndrome (RNU4-2) 🧬 We're pleased to announce the release of a new guide on ReNU syndrome, a rare genetic condition that was first reported in 2024. ReNU syndrome is a neurodevelopmental disorder (NDD) meaning that it affects how the brain functions and has an impact on learning, behaviour, speech and movement. This guide was compiled by our Scientific Communications Officer, Claire Andersen in collaboration with Nicky Whiffin (PhD), Anne O’Donnell-Luria (MD, PhD), Gabrielle Lemire (MD), Sarah L. Stenton (MD, PhD) and Stephan Sanders (MD, PhD). Visit our website to explore these resources and learn more about ReNU syndrome. #Genetics #NeurodevelopmentalDisorder #GeneticCondition #ReNUSyndrome #RareDiseases #ScientificResearch #MedicalGuides #PatientResources

Our research seminars occur monthly and are open to all. Join us on 25 February 2-3pm, where this month our talks will focus on rare conditions. Register for free at: https://ow.ly/QMJL50V2Khi #RareDiseaseDay

Whether you’re a regular listener of Behind the Genes and Genomics 101 or have never tuned in, your insights will help us shape the future of our podcast. We'd love to hear your thoughts via this survey, it takes less than 5 minutes: https://ow.ly/27h550URarl Thank you for helping us improve! 💬

A condition is classed as ‘rare’ if it affects less than 1 in 2,000 people in the general population. Read our genomics 101 blog to learn more about rare conditions: https://ow.ly/C8Og50V04Tv #RareDiseaseDay