Unique - Understanding Chromosome and Gene Disorders

The Participant Panel at Genomics England is recruiting for a new Chair and new Panel members.   Eligible applicants will have taken part in the 100,000 Genomes Project, the Generation Study, the GenOMICC COVID-19 study, or consented to donating their or a family member’s data to research via the NHS Genomic Medicine Service. The Panel plays a vital role in ensuring the interests of participants are always at the centre of everything Genomics England does. Apply to help champion and protect participants’ interests. Applications for the Chair role close 30 September, and applications for member roles close 11 October.   https://lnkd.in/eJ8uUg2B

A Huge Thank You to Our 'Ride for Rare' Supporters! We at Unique are incredibly grateful to everyone participating in or donating to Ride for Rare! Your support means the world to us and helps us continue our vital work supporting individuals and families with rare chromosome and gene disorders. On Sunday, 15th September 2024, genetic professionals will take part in motorcycle and bicycle rides across the country to raise money and spread awareness. Funds raised will be split between both SWAN UK and Unique. Thank you for recognising the value of our work and for making a difference! To donate head to: bit.ly/Ride4rare #RideForRare #Grateful #CharitySupport #RareGenetics #SWANUK #UniqueCharity #Fundraising #GeneticDisorders #Rarechromo #unique

Call for Volunteers! Share Your Genomic Testing Journey… Have you or a loved one experienced genomic testing? A research team from the University of Oxford would love to hear your story as part of their research project, Ethical Preparedness in Genomic Medicine (EPPiGen). They’re exploring the challenges of genomic medicine and want to hear from patients and families across a wide range of cultural and ethnic backgrounds from anywhere in the UK. Your experiences will help shape the future of genomic healthcare! Interested in sharing your story? If you would like to take part in this study, please email Kate Lyle (kate.lyle@well.ox.ac.uk) or Susie (Weller susie.weller@well.ox.ac.uk) or (Lisa Ballard l.ballard@soton.ac.uk). #GenomicMedicine #PatientStories #EPPiGen #OxfordResearch #Genomics #MedicalResearch #VolunteerOpportunity #Rarechromo #Genedisorders

Today is International 9p Minus Awareness Day! 💙🌍 A day to raise awareness about 9p minus syndrome and its impact on the lives of those affected, whether you’re a family member, friend, or advocate, every voice counts in spreading the word and educating others! 🙌 We offer free Information Guides to specific chromosome and gene disorders including those affecting chromosome 9 like 9p Minus. Head to bit.ly/alluniqueguides to find out more. #9pMinusAwareness #Support9pMinus #Chromosome9pMinus #RareChromoAwareness #FundraisingForACause #MakeADifference #Unique

Join Us for the World’s First Q&A on RNU4-2/ReNU Syndrome! If a loved one is impacted by a change in the RNU4-2 gene, don’t miss this groundbreaking webinar hosted by Unique. And learn about this newly discovered neurodevelopmental condition from leading experts! 📅 Date: 10th October 2024 🕒 Time: 2:30pm BST Speakers: Nicky Whiffin, Associate Professor, University of Oxford Anne O’Donnell, Co-Director, Center for Mendelian Genomics (Broad Institute of MIT and Harvard) Stephan Sanders, Professor of Paediatric Neurogenetics, University of Oxford We’ll cover the science behind this discovery and answer your questions live. 🔗 Register here: https://bit.ly/RNU4-2 #Webinar #RareGene #Rarechromo #Unique #RNU42 #ReNUsyndrome #Neurodevelopment #GeneticDisorders

New Guide Available: Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) 🧬 We're pleased to announce the release of a new guide on BBSOAS, a rare genetic condition linked to visual impairment, developmental delays, seizures/epilepsy, and intellectual disability. 📙 This guide was compiled by Jennifer Coughlin, President of the NR2F1 Foundation, and our Scientific Communications Officer, Anna Pelling. It was carefully reviewed by Dr. Sarah Poliquin, PhD, from COMBINEDBrain, Brentwood, TN, USA. For accessible information, we also offer an 'Easy Read' version of the guide, as well as a 'My Gene Story' edition created specifically for younger readers. All available to download for free at www.bit.ly/alluniqueguides Visit our website to explore these resources and learn more about BBSOAS. 💙✨ Read the full guide here: www.bit.ly/BBSOAS #BBSOAS #RareGene #GeneticDisorders #SupportAndAwareness #NewGuide #VisualImpairment #Epilepsy #DevelopmentalDelays #Unique #charity

September is STXBP1-Related Disorders Awareness Month! 🧬 STXBP1-related disorders are rare genetic conditions that affect brain function, often leading to epilepsy, developmental delays, and other neurological challenges. Understanding these disorders can make a world of difference for those affected. Help raise awareness by sharing this post and visit our website to read our detailed guide on STXBP1-related disorders. 🔗: www.bit.ly/stxbp1 #STXBP1Awareness #STXBP1 #RareChromo #GeneticDisorder #SupportAndAwareness #ShareToSupport #Unique #Charity #rarechromosome

Today is TBR1-Related Disorder Awareness Day! 💙 TBR1-related disorder is a rare genetic condition that impacts brain development, leading to neurodevelopmental difficulties affecting intellectual ability, speech, and behaviour. Spread awareness to promote understanding and support those affected. ✨ Share this post and visit our website to read our guide on TBR1-Related Disorder. 🧬 🔗 https://bit.ly/TBR1-RD #TBR1Awareness #TBR1 #RareChromosome #GeneticDisorder #SupportAndAwareness #ShareToSupport #Unique

Your Regular Donations Make a Huge Impact! By donating as little as £2/$2/€2 a month, you can help us continue supporting families living with rare chromosome and gene disorders for an entire year. To set up a regular donation head to rarechromo.org/donate/ or simply: Set up a regular standing order through your online banking – just email our Finance Officer at louise@rarechromo.org for our bank details. Don’t have online banking? Download our Standing Order Mandate Form, complete it, and send it to your bank. Then, drop us an email to let us know! Every contribution counts, no matter the size. 🙏 #CharitySupport #RareChromo #genedisorder #MakeADifference #SupportFamilies #MonthlyDonations #unique 

Curious about how AI can benefit genomic medicine? 🧬 We are hosting a webinar with The Genomic Medicine Service on 26th of September at 2 PM. Join us to find out more about how AI will impact Genomic Medicine and for the opportunity to share your views with us and the NHS.  🎟️ Reserve your spot here: www.bit.ly/AIGenomic #AI #Genomics #HealthcareInnovation #NHS #Webinar