📣 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

We are getting amazing emails from people who have identified individuals with RNU4-2 variants ❤️

If this is you, and your families are interested in meeting others or being part of a community, then please direct them to Unique (@swynn_unique).

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…

'Joining SWAN UK right at the beginning of our journey was an absolute lifeline as we waded through the relentless waves of we don't know.'

Help more families, affected by undiagnosed genetic conditions, find us sooner.
ow.ly/2jpN50R4qA6

#UCD2024 #SyndromesWithoutAName

Looking forward to joining this conversation about the challenges and opportunities of data sharing for Unique families in the world of rare conditions.

A mind-blowing discovery of a noncoding region in the human genome that might be holding the answer that 1000s of parents around the world with a child with a neurodevelopmental disorder (NDD) have been patiently waiting for years.

A recurrent de novo noncoding single base pair

Just amazing! Fabulous work finding diagnoses for more people and families affected by neurodevelopmental conditions.

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

Please help Unique member Lucy win a Bafta! Lucy amazed everyone in the TV show, The Piano. Her mum asked if everyone could please vote for her. Voting closes TOMORROW so vote now! publicvote.bafta.org/po-cruises-mem…

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

Teachers, join our schools training session:

🎥 Overcoming Barriers to Parental Participation from a Parent Perspective
📆 30th April

Plus, if your school's PTA is a Parentkind member, it's FREE!

Sign up: bit.ly/3Vsv1jH

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 had a wonderful family day in Newcastle on Saturday: meeting lots of Unique families; enjoying a lovely lunch; being entertained by an amazing magician; buying some merch; asking local GCs and clinical genetic scientists any questions. Thank you to everyone who came!

📢 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

Have your say on how the #Scottish Action Plan is progressing.

We have events on Wednesday 27 March 2024 (18:00 - 19:30) and Thursday 28 March 2024 (9:30 - 11:00). Come along to hear from Scottish Government and share your views.

Email [email protected] to join us

📌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

With my two helpers, I am on my way from London to Newcastle for a Unique family day. Looking forward to meeting lots of #rarechromo families!

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…