Unique - Understanding Chromosome and Gene Disorders

Today is the day! Looking forward to attending #BSGM2024, seeing old friends and learning what is new in the world of #genomics.

📢 Family Carers, We Need Your Input! 📢 The Challenging Behaviour Foundation (CBF) is conducting a new project, aiming to make research on learning disabilities more accessible and practical for family carers. Your views will help shape this project for maximum impact! 📝 Take the survey to share your thoughts on how we can create and share research summaries that are engaging and useful. 🔗 Survey link: https://ow.ly/ZP9N50TZ42B 🗓️ Open until Sunday, 10th November. For more info visit: https://ow.ly/MYzo50TZ42H Your feedback is invaluable! 🙏 #FamilyCarers #ResearchEngagement #READProject

💛 November is 22q Awareness Month! 💙 At Unique, we’re dedicated to spreading awareness about 22q-related syndromes and supporting families affected by these complex genetic conditions. As part of our mission, we offer a range of free guides on our website that cover key 22q syndromes, including: 22q13 Deletions (Phelan McDermid Syndrome) 22q11.2 Distal Deletion Syndrome 22q11.2 Deletion Syndrome (Velo-Cardio-Facial Syndrome) 22q12q13 Duplications 22q11.2 Microduplications Each guide is designed to provide clear information on these conditions and practical insights for navigating the unique challenges they present. This month we want to spread awareness to help understand what a complex condition 22q is, how much support is often needed, and the incredible resilience of those affected. Visit our website to explore all our guides and find out how you can help make a difference this 22q Awareness Month. 🌍 #22qAwareness #GeneticDisorders #22qSupport #RareGeneticSyndromes #GeneticAwareness #FamilySupport #22qSyndrome

The use of artificial intelligence (AI) is becoming more commonplace. The Genomic AI Network (GAIN), a national community who are working together to discuss, explore, promote, test and ultimately shape how AI should be used within genomic medicine, will be launched shortly. A Public Perspective Forum, made up of patient representatives from across England, including our Scientific Communications Officer Dr Claire Andersen, will sit within this Network to ensure public feedback is central to the development of a national framework which will guide the NHS on how to use AI within genomic healthcare. The launch event for the project will be online on 14th November at 11.30am GMT and is open to everyone. Register to learn more about this exciting initiative. We hope to see you there! Tickets and more info here: https://bit.ly/4fnfTuv #ArtificialIntelligence #GenomicMedicine #Genomics #PatientEngagement #NHS #PublicHealth #HealthcareInnovation #HealthTech #RareChromo #Unique

✨ Happy Diwali from all of us at Unique! ✨ Wishing all those celebrating in our Unique community a Diwali filled with light, love, and joy! May this festival bring peace to your hearts and hope to your homes. 🪔💖 #HappyDiwali #FestivalOfLights #UniqueCharity

October is #ADHD Awareness month and we know that lots of those with a rare chromosome or gene disorder also have ADHD. If you need some help, we can signpost you to useful resources and sources of support. Just get in touch at help@rarechromo.org #ADHDAwareness #RareChromosome #GeneDisorder #Neurodiversity

✨ Nominate Unique as your company's charity of the year! ✨ Whether it’s fundraising events, team challenges, or workplace initiatives, every contribution makes a difference. Together, let’s create a lasting impact! Unique mum Catriona Taylor saw the opportunity to nominate Unique for support through her employer’s Charity of the Year scheme. It’s been amazing for her…. and for the charity! Catriona says “My son Joshua is 12 years old and has a diagnosis of Trisomy 9 Mosaicism. He was diagnosed when he was tiny and still in the neonatal unit. The doctor informing us of Joshua’s diagnosis had never heard of T9M. We were handed the Unique leaflet and sat down to read it, a moment we’ll never forget. Since that time Unique have continued to be there for us, providing support, information and introductions to other families locally and around the world. Every year my company, The Blair Partnership and Pottermore Publishing, raise money for a chosen charity. This year, in the hope of giving something back, I nominated Unique and I was delighted when they were chosen. We were lucky enough to have Sarah Wynn come in to the office to talk about Unique’s amazing work and spread the word about chromosome disorders. My colleagues then enthusiastically set about raising money through running, rowing, screenings, bingo and many other fun challenges! We’ve raised over £10,000 and hope to raise much more over the coming months. It has been incredible to see how my colleagues have really got behind Unique. Personally, it has been a real highlight of my working life and I have been overwhelmed and inspired by my colleagues great efforts!” 💌 Interested? Get in touch to learn more about partnering with us! Just email craig@rarechromo.org

✨ Nominate Unique as your company's charity of the year! ✨ Whether it’s fundraising events, team challenges, or workplace initiatives, every contribution makes a difference. Together, let’s create a lasting impact! Unique mum Catriona Taylor saw the opportunity to nominate Unique for support through her employer’s Charity of the Year scheme. It’s been amazing for her…. and for the charity! Catriona says “My son Joshua is 12 years old and has a diagnosis of Trisomy 9 Mosaicism. He was diagnosed when he was tiny and still in the neonatal unit. The doctor informing us of Joshua’s diagnosis had never heard of T9M. We were handed the Unique leaflet and sat down to read it, a moment we’ll never forget. Since that time Unique have continued to be there for us, providing support, information and introductions to other families locally and around the world. Every year my company, The Blair Partnership and Pottermore Publishing, raise money for a chosen charity. This year, in the hope of giving something back, I nominated Unique and I was delighted when they were chosen. We were lucky enough to have Sarah Wynn come in to the office to talk about Unique’s amazing work and spread the word about chromosome disorders. My colleagues then enthusiastically set about raising money through running, rowing, screenings, bingo and many other fun challenges! We’ve raised over £10,000 and hope to raise much more over the coming months. It has been incredible to see how my colleagues have really got behind Unique. Personally, it has been a real highlight of my working life and I have been overwhelmed and inspired by my colleagues great efforts!” 💌 Interested? Get in touch to learn more about partnering with us! Just email craig@rarechromo.org

A huge thank you to Genomics England for providing a meeting room at their London office for us to use for our recent Trustee meeting. Pictured are our 6 Trustees, Noni, Edna, Shwetha, Ben, Sophie and Helen, along with Sarah, Louise and Craig from the staff team. #unique #rarechromo #genedisorder #charity #meettheteam

A massive thank you to all the genetics professionals and others who took part in Ride for Rare, raising an incredible £13,313 for Unique and SWAN UK! Well done to Karenza Evans for being the driving force behind it and also to Matthew Hamer at Genetic Alliance UK for the comms and this lovely video. #RideforRare #RareHeroes #genetics #genomics #rarechromosomedisorder