Sian Churchill

Head of Child Care Dept and Senior Associate at Crane & Staples LLP. Total nerd. Ehlers Danlos and Lynch Syndrome sufferer and info sharer! All views my own.

[Sian Churchill @SGethsemene]

Thank you all!

[3DJB @ThreeDJB]

Amy Stout and Anushka Kangesu delivered training today to our friends at Crane & Staples on Covert Recordings. It was lovely to receive some positive feedback from Sian Churchill, “I honestly can’t thank you enough – we all had a great time and it was so helpful".

[Sian Churchill @SGethsemene]

@ThreeDJB @PeacockLisaJ Many congratulations Neil!

[Sian Churchill @SGethsemene]

@talkaboutluck I had this from pizza hut! They refused to refund me too. I cancelled my Uber One account because I was so mad 🤣

[Sian Churchill @SGethsemene]

@talkaboutluck

[Sian Churchill @SGethsemene]

@talkaboutluck Hahaha I'm about to go for the 12th time in 2 weeks. I have issues.

[Sian Churchill @SGethsemene]

@talkaboutluck The horror!

[Sian Churchill @SGethsemene]

@talkaboutluck Yesssssss. I am so with you. It's an absolute nightmare.

[Sian Churchill @SGethsemene]

@talkaboutluck Yes. Yes. A thousand times yes.

[Sian Churchill @SGethsemene]

I need to let @upuntil_dawn know that every time my dog sees you on telly he barks. Every time. S16 has been a fun watch ha. 🖤

[Sian Churchill @SGethsemene]

@ThreeDJB Merry Christmas to you all 🎄 Thank you for all the support, kindness, and guidance you've shown me and my team ❤️

[Sian Churchill @SGethsemene]

https://t.co/lMB1Rc7CWk

@CraneandStaples
@ehlersdanlosuk

[Sian Churchill @SGethsemene]

@ThreeDJB Amy I am SO ridiculously proud of you ❤️

[Sian Churchill @SGethsemene]

@OliverConway @suesspiciousmin @WeAreLAPG

[Sian Churchill @SGethsemene]

@suesspiciousmin @OliverConway @WeAreLAPG This. Pre proceedings fixed fee is appalling and limits the work we can do. I remember a time when a CG would attend PLO meetings (short lived), that was good.

[Sian Churchill @SGethsemene]

@talkaboutluck I believe that's karma because it's not even November yet 😂

[VeryBritishProblems @SoVeryBritish]

Britain is simply not going to believe how dark it is later.

[Sian Churchill @SGethsemene]

@ehlersdanlosuk Pre-cut veg and fruit, seat for the kitchen to perch when cooking, and lots of pillows

[The Ehlers-Danlos Society @TheEDSociety]

🧬Exciting HEDGE Study Update!

Hypermobile Ehlers-Danlos syndrome (hEDS) remains the only type of Ehlers-Danlos syndrome (EDS) that does not have known genetic markers and diagnosis cannot be confirmed through genetic testing. Many people with hEDS, therefore experience delays in diagnosis, can be misdiagnosed, and can experience delays in accessing suitable treatments.

The Ehlers-Danlos Society’s HEDGE study is a truly global collaborative effort with participants from 86 countries, analyzing 1021 whole-genome sequences from individuals who have hEDS by the 2017 clinical diagnostic criteria.

The HEDGE analysis team is preparing for the publication of their initial findings from the HEDGE (Hypermobile Ehlers-Danlos Genetic Evaluation) study. The team plans to publish a number of papers, which are expected to be released in 2025.

Ahead of this, the team submitted abstracts describing preliminary work on the HEDGE study to the American Society for Human Genetics (ASHG) conference. The ASHG @GeneticsSociety is the world's largest professional community driving the field of human genetics and genomics research and translation, so this is incredible news. The conference committee accepted three abstracts.

Details of how to view the abstracts, lay summaries, and FAQs can be found here: https://t.co/kJuDyMHwow

In addition, The Ehlers-Danlos Society is producing a general Q&A webinar update on the HEDGE Study and the publications, which will be available from November 8, 2024, once the ASHG conference presentation has been given and in compliance with their press release requirement.

To stay up to date with the latest HEDGE news please join our newsletter here: https://t.co/tZTjNlXclE HEDGE participants have been contacted in advance by our research team.

#hEDS #HypermobileEDS #HypermobileEhlersDanlosSyndrome #Genetics #GeneticResearch #Research #HEDGEstudy