Sarah Wynn @swynn_unique
CEO @unique_charity. All views my own. Islington, London Joined November 2019-
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Sarah Wynn retweeted
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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Sarah Wynn retweeted
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: rarechromo.org/get-ready-for-…
Sarah Wynn retweeted
Happy to share ou new preprint reporting a frequent developmental and epileptic encephalopathy caused by biallelic variants in RNU2-2.
Happy to share ou new preprint reporting a frequent developmental and epileptic encephalopathy caused by biallelic variants in RNU2-2.
Sarah Wynn retweeted
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/doi/10.1002/an…
Sarah Wynn retweeted
🧠💜 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 bit.ly/DYRK1Adeletion to download our full guide. #DYRK1ASyndrome
Sarah Wynn retweeted
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👉 rarechromo.org/little-red-boo…
Sarah Wynn retweeted
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.
Sarah Wynn retweeted
We’re hiring: Engagement and Support Officer - Rare Resources Scotland. Help deliver a 6-month pilot project supporting families with genetic, rare and undiagnosed conditions. Part-time, home-based, with travel within Scotland. Apply by 20 Aug 2025: geneticalliance.org.uk/who-we-are/job…
Sarah Wynn retweeted
Did you know that many employers have a 'Charity Policy'? 💸 Often, this includes match funding. It is always worth asking at your place of work to see what support they can offer to support your fundraising. They may be able to boost your incredible fundraising efforts!
Sarah Wynn retweeted
Interested in learning about @RDRUK_ELSI aims to improve research and clinical practice for people living with rare conditions? Check out this article which covers the key themes, priorities and challenges of rare condition clinical trials. rb.gy/c5clh1
Sarah Wynn retweeted
Paul, alongside some family and friends, hiked Snowdon to raise money for Unique. The team took to the mountain on one of the UKs hottest days. The group ranged in age from 5 to 56 and every single one of them reached the top - you are all AMAZING! justgiving.com/page/paul-mask…
Sarah Wynn retweeted
We are super excited to introduce a few new members to the Unique team! Grace is interning for us as an Information Officer for the summer and Emily joins as a part time Information Officer from September. We're extremely excited and lucky to have such wonderful people join us.
Sarah Wynn retweeted
In this paper, we outline the hopes and challenges developments in genomics and genomic testing brings for patients and families affected by rare chromosome and gene disorders associated with intellectual disability and/or neurodevelopmental conditions. onlinelibrary.wiley.com/doi/10.1111/ah…
Sarah Wynn retweeted
Today is the first #GeneticTestingActionDay! We’re proud to raise awareness about why early #GeneticTesting matters and urge families facing developmental/medical concerns to talk to their drs about genetic testing. Visit StartGenetic.org to download the Parent Toolkit.
Sarah Wynn retweeted
Around 8 years after joining the 100,000 Genomes Project, Maria received a phone call telling her a diagnosis had been found for her son, Noah. RNU5B-1-related disorder is a recently discovered neurodevelopmental condition. Read Noah's story: ow.ly/s3yJ50WuvtT
Sarah Wynn retweeted
🚨Opportunity for parents who have a child with a condition caused by a de novo genetic change. Were you offered a personalised PREGCARE assessment or provided with standard recurrence risk counselling and NOT offered PREGCARE? Contact [email protected] for more info
Sarah Wynn retweeted
Good luck to Amy and colleagues from Cheshire Scientific on their 12.5 mile Wirral Coastal Walk today in support of Unique. Cheshire Scientific shared this all about the event: ow.ly/WH3M50WeGXB Or you can donate directly to the fundrasier here: ow.ly/3pv150WeGXA
Sarah Wynn retweeted
Do you or your child carry a variant in NRXN1 or 2p16.3? @pennASPE (a genetic study of #autism – with a focus on NRXN1 deletion) is working to translate biological research into improved treatments, services, and support programs. Join their study now: aspe.med.upenn.edu/join-our-study/
Sarah Wynn retweeted
🤯 Do you remember us thanking Jim for his wing walk fundraiser? Well, HE DID IT! Thank you Jim, we're so glad to hear you enjoyed the experience and loved seeing the photos. You are a superstar, we're so grateful for the support - justgiving.com/page/jim-cromb…
Sarah Wynn retweeted
Save The Date: The Adelphi Genetics Teachers’ Conference in Manchester is booked for Fri 26th June 2026
Unique @Unique_charity
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NHS Genomic Medicine ... @NHSgms
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SWAN UK (syndromes wi... @SWAN_UK
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Dr Ali Kay 🧬📚�... @AliMakesHay
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AGNC @theAGNC
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James Lind Alliance @LindAlliance
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788 Followers 472 Following Funding research & providing support & education to individuals & families impacted by GRIN2B-Related Neurodevelopmental Disorder. #GRIN2B
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Financial Times @FT
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ClinGenetNews @ClinGenetNews
401 Followers 1 Following CLINICAL GENETICS keeps our readers up-to-date on the latest developments in the field. ClinGenetNews tweets are from the Editors (and not the publisher).
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3K Followers 2K Following MP for Scarborough & Whitby. [email protected]
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Professor Ian Abbs @icabbs
3K Followers 930 Following Chief Executive Officer at Guy's and St Thomas' NHS Foundation Trust @GSTTnhs
Mark Cubbon @MCubbonNHS
7K Followers 2K Following Proud to be Trust Chief Executive - Manchester University NHS Foundation Trust. Tweeting in a personal capacity. 🏳️🌈
ELSI - Rare Disease R... @RDRUK_ELSI
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EHDN News @EHDN_News
717 Followers 975 Following European Huntington's Disease Network newsletter. Please see our profiles on BlueSky and LinkedIn for the latest updates.
Giorgina Maxwell (she... @GiorginaMaxwell
146 Followers 565 Following Genetic Counsellor & PhD student working in Glaucoma Genomics. Living & working on Kaurna Land. Views are my own 🧬🐕🌊🏳️🌈 @giorginamaxwell.bsky.social
Emma Lang @EmmaLangPoole
179 Followers 514 Following Work in politics by day, trade unionist by heart. Fighting for working mums, flexible working, and SEND justice. Powered by coffee ☕
alistair pagnamenta @alistairp2011
199 Followers 231 Following Human genetics researcher based at University of ExeterTrends for United States
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