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Reposted by James Fasham

Alex Hoischen @ahoischen.bsky.social · May 29

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...

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...

docs.google.com

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James Fasham @jamesfasham.bsky.social · May 29

#MorbidGene (Test 2)

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James Fasham @jamesfasham.bsky.social · May 29

(Testing @diseasegenes.bsky.social)

#MorbidGene

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James Fasham @jamesfasham.bsky.social · May 29

(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 🙄)

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Reposted by James Fasham

Alex Hoischen @ahoischen.bsky.social · May 27

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 🇦🇺🇦🇺🇦🇺🇦🇺🇦🇺

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Reposted by James Fasham

Jodie Ingles @jodieingles27.bsky.social · May 26

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

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James Fasham @jamesfasham.bsky.social · May 27

Look forward to seeing you in Exeter Lein ☺️

European Society of Human Genetics @eshg.bsky.social · May 27

ESHG Mentorship scheme awardees 2025
• Nesibe Bulut Turkey to Vienna, Austria
• Tea Mladenić Croatia to Jena, Germany
• Melda Erdoğdu Turkey to Linköping, Sweden
• Lein Dofash Australia to Exeter, UK
• Daniela Oliveira Portugal to Stockholm, Sweden

#ESHG2025

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Reposted by James Fasham

European Society of Human Genetics @eshg.bsky.social · May 27

#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!

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James Fasham @jamesfasham.bsky.social · May 27

Congratulations Jingzhan ☺️

European Society of Human Genetics @eshg.bsky.social · May 27

#ESHG2025 Mia Neri Award
for best presentation in cancer research.

Jingzhan Lu,Exeter, United Kingdom

"Predicting prostate cancer by combining Prostate Specific Antigen (PSA) test results with Genetic Risk Scores (GRS)"

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James Fasham @jamesfasham.bsky.social · May 27

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?

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James Fasham @jamesfasham.bsky.social · May 27

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

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James Fasham @jamesfasham.bsky.social · May 27

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

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Reposted by James Fasham

Pilar Cacheiro @pilarcacheiro.bsky.social · May 27

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

#ESHG2025

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James Fasham @jamesfasham.bsky.social · May 27

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

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Reposted by James Fasham

Pilar Cacheiro @pilarcacheiro.bsky.social · May 27

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

#ESHG2025

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Reposted by James Fasham

Pilar Cacheiro @pilarcacheiro.bsky.social · May 27

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

#ESHG2025

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Reposted by James Fasham

Tim Frayling @timfrayling.bsky.social · May 27

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).

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Reposted by James Fasham

Tim Frayling @timfrayling.bsky.social · May 27

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

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James Fasham @jamesfasham.bsky.social · May 27

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)

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James Fasham @jamesfasham.bsky.social · May 27

Chofit Chai #ESHG2025

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

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James Fasham @jamesfasham.bsky.social · May 27

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

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James Fasham @jamesfasham.bsky.social · May 27

a genome? 🧬

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Reposted by James Fasham

Andrew Burgess @drandrewburgess.bsky.social · May 27

Love today’s #xkcd comic on
#MassSpec
🤣

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

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James Fasham @jamesfasham.bsky.social · May 27

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)

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James Fasham @jamesfasham.bsky.social · May 27

👏Thanks to our panel

You *were* the workshop ☺️

ESHG2025

Agnes Caruso @agnescaruso.bsky.social · May 26

Here is the panel. @jamesfasham.bsky.social, @zornitza.bsky.social, @ritabmatos.bsky.social, @psychgenomics.bsky.social, @aleenamolbio.bsky.social. I am missing a few handles, please add them.

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