Sarah Wynn
@sarahlwynn.bsky.social
CEO Unique (Rare Chromosome & Gene Disorders) 🧬
Reposted by Sarah Wynn
Last week was the first #ReNUhopeConference
It was an enormous privilege to meet many ReNU warriors (they give the best hugs!) and their families, and scientists and clinicians working on ReNU.
ReNU Syndrome United have achieved so much in only a single year, building an incredible community 💙
It was an enormous privilege to meet many ReNU warriors (they give the best hugs!) and their families, and scientists and clinicians working on ReNU.
ReNU Syndrome United have achieved so much in only a single year, building an incredible community 💙
July 28, 2025 at 9:03 AM
Last week was the first #ReNUhopeConference
It was an enormous privilege to meet many ReNU warriors (they give the best hugs!) and their families, and scientists and clinicians working on ReNU.
ReNU Syndrome United have achieved so much in only a single year, building an incredible community 💙
It was an enormous privilege to meet many ReNU warriors (they give the best hugs!) and their families, and scientists and clinicians working on ReNU.
ReNU Syndrome United have achieved so much in only a single year, building an incredible community 💙
Honoured to be included in this little gang! 🧬❤️ 🙏 Looking forward to you joining us next year at #ESHG2026!
Great picture from #ESHG2025 of three of my favorite UK superwomen of #Genomics
Unique's @sarahlwynn.bsky.social, @genomicsengland.bsky.social Suzi Walker and @neygenomics.bsky.social Miranda Durkie
Unique's @sarahlwynn.bsky.social, @genomicsengland.bsky.social Suzi Walker and @neygenomics.bsky.social Miranda Durkie
May 29, 2025 at 9:49 PM
Honoured to be included in this little gang! 🧬❤️ 🙏 Looking forward to you joining us next year at #ESHG2026!
Amazing and exciting progress for rare conditions and families @uniquecharity.bsky.social. By all (clinicians, researchers and patients) working together will can continue to drive forward improved diagnosis, care and treatment for all.
Both translational and fundamental curiosity-driven research are needed to fuel the incredible progress we're seeing in genomic medicine; an important message in this article and and some lovely quotes from @sarahlwynn.bsky.social
www.ft.com/content/25dd...
www.ft.com/content/25dd...
Curiosity underlies a breakthrough in rare disease
We must recognise and protect the pipelines that lead from research to real-world benefit
www.ft.com
May 29, 2025 at 9:54 AM
Amazing and exciting progress for rare conditions and families @uniquecharity.bsky.social. By all (clinicians, researchers and patients) working together will can continue to drive forward improved diagnosis, care and treatment for all.
Reposted by Sarah Wynn
Both translational and fundamental curiosity-driven research are needed to fuel the incredible progress we're seeing in genomic medicine; an important message in this article and and some lovely quotes from @sarahlwynn.bsky.social
www.ft.com/content/25dd...
www.ft.com/content/25dd...
Curiosity underlies a breakthrough in rare disease
We must recognise and protect the pipelines that lead from research to real-world benefit
www.ft.com
May 29, 2025 at 8:44 AM
Both translational and fundamental curiosity-driven research are needed to fuel the incredible progress we're seeing in genomic medicine; an important message in this article and and some lovely quotes from @sarahlwynn.bsky.social
www.ft.com/content/25dd...
www.ft.com/content/25dd...
Reposted by Sarah Wynn
We are calling clinicians to propose rare genetic neurodevelopmental disorders, which they will be willing to lead development of a new guide, with assistance of our generative AI model.
Propose a condition by 30th May:
forms.office.com/e/j...
Propose a condition by 30th May:
forms.office.com/e/j...
May 8, 2025 at 12:29 PM
We are calling clinicians to propose rare genetic neurodevelopmental disorders, which they will be willing to lead development of a new guide, with assistance of our generative AI model.
Propose a condition by 30th May:
forms.office.com/e/j...
Propose a condition by 30th May:
forms.office.com/e/j...
This beautiful drawing highlights what will be a wonderful evening celebrating science and a new gene discovery which has made such a difference to so many rare 🧬 families. @uniquecharity.bsky.social
We are delighted to be hosting an evening of talks about the discovery of ReNU syndrome, at 17:30 on Tuesday 29th April at St Anne's College. Further information, and registration details can be found here: cpm.ox.ac.uk/event/the-di...
We hope to see you there!
We hope to see you there!
March 21, 2025 at 11:01 AM
This beautiful drawing highlights what will be a wonderful evening celebrating science and a new gene discovery which has made such a difference to so many rare 🧬 families. @uniquecharity.bsky.social
A wonderful story of how 🧬 research can provide hope & answers to families affected by rare conditions. Enormous thanks to @nickywhiffin.bsky.social, Yuyang Chen & others whose work is dedicated to finding these answers for @uniquecharity.bsky.social families.
A few weeks ago, I had an incredibly emotional call with James Coney, a writer for the Sunday Times whose son Charlie was in the @genomicsengland.bsky.social 100k project and was recently diagnosed with ReNU syndrome. This beautiful article tells their story ❤️ www.thetimes.com/article/0bcc...
My son Charlie — and the breakthrough that changed our lives
James Coney and his wife, Sarah, struggled not knowing why their 12-year-old was born with a severe learning disability. In their darkest moments, they blamed themselves. Then, out of the blue, came a...
www.thetimes.com
March 2, 2025 at 12:54 PM
A wonderful story of how 🧬 research can provide hope & answers to families affected by rare conditions. Enormous thanks to @nickywhiffin.bsky.social, Yuyang Chen & others whose work is dedicated to finding these answers for @uniquecharity.bsky.social families.
Reposted by Sarah Wynn
A few weeks ago, I had an incredibly emotional call with James Coney, a writer for the Sunday Times whose son Charlie was in the @genomicsengland.bsky.social 100k project and was recently diagnosed with ReNU syndrome. This beautiful article tells their story ❤️ www.thetimes.com/article/0bcc...
My son Charlie — and the breakthrough that changed our lives
James Coney and his wife, Sarah, struggled not knowing why their 12-year-old was born with a severe learning disability. In their darkest moments, they blamed themselves. Then, out of the blue, came a...
www.thetimes.com
March 2, 2025 at 12:06 PM
A few weeks ago, I had an incredibly emotional call with James Coney, a writer for the Sunday Times whose son Charlie was in the @genomicsengland.bsky.social 100k project and was recently diagnosed with ReNU syndrome. This beautiful article tells their story ❤️ www.thetimes.com/article/0bcc...
Reposted by Sarah Wynn
📢 We're Hiring – Engagement & Communications Officer! 🌟
To apply and find out more click here: bit.ly/Uniquejob
Join us in making a difference!
#Hiring #CommunicationsOfficer #CharityJobs #RareDisorders
To apply and find out more click here: bit.ly/Uniquejob
Join us in making a difference!
#Hiring #CommunicationsOfficer #CharityJobs #RareDisorders
February 14, 2025 at 6:00 PM
📢 We're Hiring – Engagement & Communications Officer! 🌟
To apply and find out more click here: bit.ly/Uniquejob
Join us in making a difference!
#Hiring #CommunicationsOfficer #CharityJobs #RareDisorders
To apply and find out more click here: bit.ly/Uniquejob
Join us in making a difference!
#Hiring #CommunicationsOfficer #CharityJobs #RareDisorders
Reposted by Sarah Wynn
Nominate Unique as your company's Charity of the Year! 💛
Pictured is member Kat Shaw and her pals from Accenture celebrating fundraising for Unique this year in their Lake District Challenge.
Get in touch to learn more about partnering with us! Just email louise@rarechromo.org
Pictured is member Kat Shaw and her pals from Accenture celebrating fundraising for Unique this year in their Lake District Challenge.
Get in touch to learn more about partnering with us! Just email louise@rarechromo.org
January 13, 2025 at 9:00 AM
Nominate Unique as your company's Charity of the Year! 💛
Pictured is member Kat Shaw and her pals from Accenture celebrating fundraising for Unique this year in their Lake District Challenge.
Get in touch to learn more about partnering with us! Just email louise@rarechromo.org
Pictured is member Kat Shaw and her pals from Accenture celebrating fundraising for Unique this year in their Lake District Challenge.
Get in touch to learn more about partnering with us! Just email louise@rarechromo.org
In my quest to spread awareness of #rareconditions 🧬 as far and wide as possible, I visited @10dowingstreet.bsky.social yesterday. While I didn’t get to meet the Prime Minister, I did get to spend time with Larry @number10cat.bsky.social!
November 27, 2024 at 5:03 PM
In my quest to spread awareness of #rareconditions 🧬 as far and wide as possible, I visited @10dowingstreet.bsky.social yesterday. While I didn’t get to meet the Prime Minister, I did get to spend time with Larry @number10cat.bsky.social!