Sarah Wynn
@swynn_unique
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CEO @unique_charity. All views my own.
Islington, London
Joined November 2019
On Saturday we held a family fun day for @Unique_charity families. Thanks to @smbanka @ramonazmoldovan and others for answering all the 🧬 questions. #uniquenotalone #touchthesky
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Researchers at Rutgers University are seeking individuals with 3q29 deletion or duplication syndrome age 8 or older and fluent in English to learn the strengths and vulnerabilities amongst those affected. Email 3q29@cabm.rutgers.edu for info
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Christmas card highlight #3! You can't go wring with this Christmas wreath design, with bonus little robin! Get this pack, and all our other designs on our website now: https://t.co/7Z1yhwrx9e
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Online connection can help bring together a world of people living with rare conditions. However, physical and local connection is sometimes what people feel is missing. Matt, our Engagement and Comms Officer covers the topic in @RareRevolutionM: https://t.co/aRJZJftX2D
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We are excited to have Helen Warren, Makaton Tutor, More Than Words Charity to host this exciting event, talking all things Makaton in an upcoming webinar. Get in touch for more information and to get the registration link.
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Our team is expanding! 🧬
Unique is growing! We are delighted to introduce you to our newest THREE members to the Unique team. Join us in giving a warm welcome to; - Emily, Information Officer (Family Support) - Niamh, Scientific Communications and Information Officer - Emma, Administration Assistant
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This ‘Leave a Review Day’ we’d love to hear how you think we’ve helped you and your family and what you’d like to see us do more of? Let us know in the comments. #LeaveAReview #Unique #RareChromo #RareDisease #RareCondition
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A wonderful year of great work.
Discover our key achievements 2024/25, including 👇 👥 Collaborative working 🤝 Equality, Diversity and Inclusion 💬 Patient and Public Involvement and Engagement 🎓 Academic career development 🥼 Working with industry 🔍 Impact case studies Read here 👇 https://t.co/3QhXbQEg06
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You're guaranteed to have a smile as big as these two with a copy of our brand new, beautifully illustrated, interactive newspaper designed to explore how our bodies are made and how difference is not less. Get your free copy now (just pay postage): https://t.co/LWsDZFq3i3
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Are a parent of a child with 7q11.23? A researcher is investigating parents’ views on the academic achievement and SEND provision for children with the genetic condition 7q11.23 duplication syndrome. To take part anonymously, you can use this link: https://t.co/nYseu1xXrM
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Many of our community use Makaton to communicate but what is it, and how can it aid communication? Find out in our upcoming webinar on Thursday 20th November 2025, 1:00pm (UK time) with Helen Warren, Makaton Tutor at @morethanwordsc. Get in touch for our registration link
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The awareness days keep on coming, with today being #CACNA1C Awareness Day. Read Unique's quick guide to CACNA1C on our website at https://t.co/C8zdyfNgAM
#RareDisease
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Today is National #NonSpeaking / #NonVerbal Awareness Day! Being “nonverbal” doesn’t mean being “non-communicative.” Spread awareness today by sharing photos of your non-verbal family members or share your non-verbal experiences in the comments! #Unique #RareChromo
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Much work to do with stakeholder groups to help UK Rare Epilepsies Together (UKRET) implement recommendations for change to improve outcomes for all living with rare epilepsies in the UK. Will you work with us? We think its time for change....DO YOU? #time4change
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Who has read our report, 'Unique experiences: Living with a rare chromosome or gene disorder'? It provides insights into the lived experience of those living with a rare chromosome or gene disorder. Have a read and let us know what you think: https://t.co/4yakIwbMjj
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Happy to share ou new preprint reporting a frequent developmental and epileptic encephalopathy caused by biallelic variants in RNU2-2.
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies https://t.co/MS5t18XVsn
#medRxiv
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New from our group: SCN3B (Nav β3) now joins SCN1B as a recessive cause of neurodevelopmental disease—extending the Nav β-subunit story beyond the heart into the brain. The pattern holds: monoallelic = mainly cardiac; biallelic = neurodevelopmental. Read:
onlinelibrary.wiley.com
SCN3B encodes the β3 auxiliary subunit, essential for voltage-gated Na+ (Nav) channel trafficking and gating. Although SCN3B has been associated with cardiac disorders, a link with neurodevelopment...
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🧠💜 Today is DYRK1A Syndrome Awareness Day 💜🧠 #DYRK1A syndrome is a rare genetic condition caused by changes in the DYRK1A. It can affect brain development, growth, learning, and communication. Head over to https://t.co/N4HoUFP4e1 to download our full guide. #DYRK1ASyndrome
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Two months ago, we launched the Little Red Book for #RareChromoDay! This amazing song, 'Missing', written by Dr Dean L Millican and performed by Georgie G Deyn (vocals) and Dr Dean L Millican (piano) fits perfectly alongside our book. Little Red Book👉 https://t.co/64JV2WzMFi
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Whilst attending the first ReNU Syndrome United conference last month, we were truly touched to have been awarded ReNU Syndrome United’s 2025 Impact Award in recognition of our support of the ReNU Syndrome Community.
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