James Fasham

ESHG suggestions from participants ESHG Feedback & suggestions Please add bullet points with suggestions for future ESHG conferences; think new/trending topics; speakers (amazing science and amazing presenters); formats; other options...

I loved it once again! Thanks for everyone making #eshg2025 happen!

#eshg2025 —> #eshg2026
Any suggestions for improvement ; ideas for topics and speakers?
Await the formal survey by @eshg.bsky.social but you can also let me know personally:

docs.google.com/document/d/1...

#MorbidGene (Test 2)

(Testing @diseasegenes.bsky.social)

#MorbidGene

(just testing the new 🤖 @diseasegenes.bsky.social bot)

#MorbidGene

(please see it's page, I will need to preauthorise all posters on BlueSky, API issues 🙄)

Also many thanks for the incredible - and ever growing - presence of colleagues, friends and collaborators from down under at #eshg2025 with many thanks to your SPC delegates — what a team 🇦🇺🇦🇺🇦🇺🇦🇺🇦🇺

Our amazing variant curator @njhenden.bsky.social presenting at #ESHG2025 - homozygous variant in SECISBP2 causing a severe perinatal cardiomyopathy - expanding the phenotype spectrum of selenoprotein deficiency disorders @nataliepstewart.bsky.social @amybakerlms.bsky.social

Look forward to seeing you in Exeter Lein ☺️

#eshg2025 it’s a wrap! We hope you enjoyed this year’s #eshg #hybridconference. Thank you for being part of it! We look forward to seeing you all at #eshg2026 in Gothenburg!

Congratulations Jingzhan ☺️

Mathilde DOYARD #ESHG2025

Starting with information that TBXAS1 disorders ⬆️ bone density

💊Could it be a target to treat bone fragility disorders such as OI?

thromboxane synthase (TXAS) inhibitors
in 🐭 studies
⬆️ bone formation
⬆️ biomechanical profiles

Patients next?

Edu Calpena #ESHG2025
@educalpena.bsky.social

Ectopic SIX3 expression underlies the craniofacial syndrome caused by deletions at the SIX2 locus

"Ectopic expression of SIX3 in the SIX2 territory"

2p21 deletions with TAD disruption shown below

Hristiana Lyubenova #ESHG2025

The absence of an enzyme-rescue metabolite as the cause of Catel-Manzke syndrome

A deep dive into uncovering the mechanism of this well-recognised condition

James Ware. The majority of cardiomyopathy cases do not have an identified monogenic cause.

#ESHG2025

If we ever needed a change we could do worse than EAHG : European Assembly of Human Geneticists?

James Ware introduced the term "recreational genomics" to refer to certain consumer genetic tests. And I love it.

#ESHG2025

The two sessions on penetrance and expressivity were among my top favourite seesions this year.

#ESHG2025

Current speaker Harry Wright in plenary session has been working in human genetics for 14 months. Another star in the making from the Exeter team #ESHG2025. Pointing out non coding aggregate signal in FGF18 for height, the gene has no coding signal (very constrained gene).

Already-risen Exeter star Gareth Hawkes @drghawkes.bsky.social following up with the latest master class in how to use WGS data, >1 billion variant based GWAS. They bypassed the WES era as didn't want to leave out 99% of the genome :-) #ESHG2025

Eike Bolmer #ESHG2025

🩻 Bone2Gene-Screen: AI-Augmented Early Detection of Rare Bone Diseases

✋Using hand x-ray

🔴 Occlusion testing allows important region within the image to be defined (see below)

Chofit Chai #ESHG2025

Loss of CELSR1 and impaired Wnt/planar cell polarity signaling cause yellow nail syndrome

I'm sure they would be delighted to charge you for the privilege...

a genome? 🧬

BEFORE THE BATHROOM SCALE WAS INVENTED, THE ONLY WAY TO WEIGH PEOPLE WAS MASS SPECTROMETRY.

Love today’s #xkcd comic on
#MassSpec
🤣

Vicente Yepez #ESHG2025

Rare Disease multi-OMICs Solvathons - a disease solving hackathon
- make sure you have consent to share

Integrated multi-omics in parallel is best

DNA-RNA & DNA-proteomic parallel approaches both ⬆️ diagnoses 10-15% (many refs)

👏Thanks to our panel

You *were* the workshop ☺️

ESHG2025

🖼️ Best view in the meeting is from the Speaker Centre

Don’t forget to upload your slides to the system!
You’ll get a QR code instantly, and the whole process is super seamless, done in under 5 minutes. Bonus: you get to enjoy the view while you wait. #ESHG2025

@deciphergenomics.bsky.social ☺️

So basically, not behaving like this is twitter

Last day of #ESHG25 #ESHG2025, make sure to catch two fantastic back-to-back talks from @hls.exeter.ac.uk @drghawkes.bsky.social describing whole genome association analysis and meta-analysis across >500,000 people (Tuesday 11:15 & 11:30, C32)