Chair of Rare Disease Advisory Group (RDAG), former CEO at Genetic Alliance UK and TSA. Passionate about improving health and social care. All views my own.
London
Joined May 2011
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Last week I chaired my first meeting of NHS England’s Rare Disease Advisory Group.
Find out more about RDAG and its role making recommendations on developing strategy for rare conditions and highly specialised services at england.nhs.uk/commissioning…
… and this new statement from @acgs_news aims to improve timely access to results from genomic testing so families with rare, genetic and undiagnosed conditions can make informed decisions about care 🧬
The @acgs_news position statement: Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access, is online jmg.bmj.com/content/early/20… Collaborative best practice guidance involving @Unique_charity @NHSgms @WalesGenePark
@GeneticAlliance @GenQA & others🧵
Great to leave on a high with two big stories in the news this week. A large-scale NHS-embedded trial is underway to see if genomic screening in newborns could identify babies with rare conditions faster, so families can get vital help earlier…👶 🧬 bbc.com/news/articles/c70z8p…
This has been my last week @GeneticAll_UK as I handed the baton on to new Chief Executive @MarkFlannCEO. Please follow Mark if you don’t already, and I look forward to seeing this amazing charity go from strength to strength under his leadership! 🏃♀️ 🏃♂️ 👀
I’m delighted to share the news that Mark Flannagan will be the new Chief Executive of Genetic Alliance UK from Monday 2 September 2024. I’ll be working with Mark for a period of induction and handover in September to provide continuity for members, staff and the community.
Mark Flannagan has been appointed as the new Chief Executive of Genetic Alliance UK and will start his new role on 2 September 2024! We look forward to welcoming Mark to the team soon – further info on our website rb.gy/ezqhl3
👀 If you’re interested in reading the full paper in @NatureMedicine, use the following link:
rdcu.be/dLgVH
@ZornitzaS @RDExeter @smbanka @swynn_unique @NeonatalEthics @jbuchanan_ox @dgmacarthur @Rich_Genomics @GeneticAll_UK @SWAN_UK
Genomic screening in newborn babies could identify rare conditions faster, so families can find the support they need earlier. Carefully-designed, large-scale trials are vital to generate the data needed for rigorous evaluation of whether this will work 🧬 nature.com/articles/s41591-0…
Genomic screening in newborn babies could identify rare conditions faster, so families can find the support they need earlier. Carefully-designed, large-scale trials are vital to generate the data needed for rigorous evaluation of whether this will work 🧬 nature.com/articles/s41591-0…
Delighted that @GeneticAll_UK Chair @liz_porterfield has been awarded an MBE in today’s King’s birthday honours. It’s a pleasure to work with Liz and lovely to see her commitment and hard work recognised! geneticalliance.org.uk/news/…
This is lovely from @GeneticAll_UKmember @Unique_charity who are raising awareness on #RareChromoDay 🎵 @SWAN_UK @SWANUK_Cymru
The wait is over! Our very own pop song for #RareChromoDay, "Touch the Sky," is out now!
Share it with friends, family, and loved ones.
Available on all major platforms!
Check out our lyrics video on YouTube: youtu.be/Nw2G8vKqon8 #TouchTheSky #NewMusic #ListenNow
Louise Fish retweeted
It's #RareChromoDay! Celebrating anyone living with a rare chromosome or gene condition and their families and carers. Please show your support...
More at rarechromo.org/rarechromoday
#unique #RareChromosomeDisorder #GeneDisorder #RareDisease #Genetics #UniqueButNotAlone #rarechromo
I’m keen to hand the baton on to an inspirimg leader to implement Genetic Alliance UK’s ambitious new strategy and lead our talented and experienced staff on the next stage of this journey.
If you would like an informal chat before deciding whether to apply, please get in touch!
Genetic Alliance UK is seeking a new Chief Executive.
We’re looking for a Chief Executive to deliver our ambitious new strategy and to inspire and lead Genetic Alliance UK’s talented and experienced team following a period of significant change.
👉 ow.ly/Vfbs50SefnL.
ALT Photo of the full Genetic Alliance UK team
Louise Fish retweeted
£2.5 million has been made available by @GOSHCharity for research into rare or complex childhood illness in a national funding call.
Further information about the call can be found on their website 👉 ow.ly/TOfi50RA870
Deadline for applications is 26 June 2024
Check out this amazing video by Megan aged 10 who is raising awareness for Undiagnosed Children’s Day today! 👀 🧬 🦢
A video for #undiagnosedchildrensday by Megan aged 10. #genomics #genomicsedu #patientvoice #expertbyexperience #disability #foreveryone @SWAN_UK @genomicsedu @GenomicsEngland
Louise Fish retweeted
📣 Help us reach more families this Undiagnosed Children's Day 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 ow.ly/CCLT50RoLoA
Louise Fish retweeted
Please donate £10 to SWAN UK this Undiagnosed Children's Day to help us reach families sooner and support our vital work throughout the year geneticalliance.org.uk/donat…
Thank you to all the children, families, teachers, health professionals and volunteer parent reps raising awareness this year. Can you help families find the support they need from @GeneticAll_UK support network @SWAN_UK sooner? #UCD2024 #SyndromesWithoutAName 🧬 🦢
Happy Undiagnosed Children's Day! Around 6,000 children are born every year in the UK with a genetic condition likely to remain undiagnosed. There are so many families that need our support. Will you share this post to help them find us sooner? #UCD2024 #SyndromesWithoutAName
Just one more day until #UndiagnosedChildrensDay when @GeneticAll_UK spread the word about what it is like to live with an undiagnosed genetic condition. We want to make sure families who need support can find our support network @SWAN_UK and member @Unique_charity faster 🧬 🦢
❓ What is #UndiagnosedChildrensDay?
It's a day to spread the word about what it means to be affected by a #syndrome without a name, (also known as an #undiagnosed #genetic condition), raise awareness of SWAN UK and reach more families who need support.
ow.ly/Gmpy50Rm43t
ALT A boy plays with a paper clock stuck on a wall. You can only see the back of his head and he is moving the hands of the clock. The SWAN UK logo and the date of undiagnosed children's day is in pink to the side
Fantastic to speak with @GeneticAll_UK members and partners at today’s @lifearc1 Translational Science Summit, and inspiring to see their incredible art exhibition dedicated to the rare disease community 🖼️ 🧬
Please nominate @GeneticAll_UK charity no 1114195 for a chance to win £5,000. It is one nomination per charity per person, so you can choose us as well as nominating a condition-specific cause that is close to your heart! 🔬🧬❤️
5 days, 10 charities, £5,000 each – nominate a charity, not-for-profit organisation or community interest company working in the health and wellbeing sector for their chance to win £5,000 each!
Nominations close on the 26th of April: brnw.ch/21wJ2C9
Good luck today, Sarah, and thank you! Please consider donating to support this amazing runner raising awareness for people living with rare conditions if you can 🏃♂️
Good luck Sarah! 🏃♂️
Today Sarah is taking on the @LondonMarathon for Jack and #RareDisease UK. From all of us, we wish you the best of luck! 👏
Please consider supporting Sarah's challenge and giving her a supportive boost.
👉 ow.ly/SbeT50RhRMH
ALT Sarah and Jack. They both wear a Rare Disease UK t-shirt. Sarah is running the London Marathon on behalf of Jack who lives with Tricho-hepato-enteric syndrome