Sarah Wynn
@swynn_unique
CEO @unique_charity. All views my own.
ID:1194896683601211394
14-11-2019 08:35:54
314 Tweets
539 Followers
1,0K Following
📣 Help us reach more families this April by sharing our reel! 📣 SWAN UK is the only dedicated community for UK based families of children aged 0-25 years old who are searching for a genetic diagnosis. #UCD2024 #SyndromeWithoutAName #UndiagnosedGeneticCondition #SWANUK
As today's #nationalsiblingsday we're thinking about all those brilliant people growing up with a brother or sister who has a rare chromosome or gene condition, to let them know how amazing they are. Our guide to supporting siblings is free at rarechromo.org/disorder-guide…
Would you believe me if I told you that a single variant in a non-coding RNA explains ~0.5% of all undiagnosed individuals with neurodevelopmental disorders (NDD) in Genomics England ???
I didn’t initially either, but here is the story of RNU4-2 🧵1/9
It's the #BrightonMarathon tomorrow and these amazing people are running for @unique_charity to help anyone with a #rarechromosomedisorder or #genedisorder Good luck guys! Why not cheer them on with a donation at rarechromo.org/donate
Research Opportunity! University of Birmingham researchers specialising in sleep and behaviour in neurodevelopmental conditions are w looking at sleep in children with an intellectual disability and their siblings. See the poster or email Lauren Walters, [email protected]
Looking forward to sharing the experiences of #rarechromo families at this event, as well as hearing from all the other excellent speakers. Come and join us to learn more about Genomics in England
📢 We are hiring!
We’re looking for a Senior Locally Employed Doctor to support and develop the portfolio of clinical research projects within our Respiratory theme, based at Wythenshawe Hospital.
⏰ Closes 10 April
Apply now ⬇️
mft.nhs.uk/careers/search…
🍽️BSGM Lunch & Learn
🗓️Wed 27 March 12:30
📈'Stats Behind the Stories - what can we learn from examining the most prevalent rare conditions?'
🗣️Nick Meade from Genetic Alliance UK
Register now: my.bsgm.org.uk
Read more: geneticalliance.org.uk
#Genetic #RareDisease
📌Meet the #EpiGenRare node! Led by Prof Albert Basson and Prof Siddharth Banka Siddharth Banka, this node will provide epigenomic expertise, access to the state-of-the-art platforms and pipelines for epigenomic analysis, and clinical expertise on epigenetic diseases.
#RareDiseases
We are proud to have partnered with @Coordown who created this hard-hitting film for #WorldDownSyndromeDay to #EndThesTereotypes . Watch #AssumeThatICan here: twitter.com/coordown/statu…