@eshg.bsky.social
The ESHG is a non-profit organization. Its aims are to promote research in basic and applied human and medical genetics, to ensure high standards in clinical practice and to facilitate contacts between all persons who share these aims.
Save the Date: ESHG Webinar Series
🗓️ 25 Feb 2026 | 16:00 CET
🧬 Genomic Newborn Screening: opportunities & challenges
🎤 Amanda Pichini (Genomics England)
💬 Reactions from James R. Bonham (International Society of Neonatal Screening) & Gulcin Gumus (EURORDIS)
🔗 www.eshg.org/webinarseries
⏰ Deadline approaching!
Only 1 week left to submit your abstract for #eshg2026, our #HybridConference in Gothenburg.
🗓️ Submit by Thursday, 12 February 2026, 23:59 CET
👉 All details: 2026.eshg.org/abstracts/
🎥 Episode 1 of the 2026 #ESHG Webinar Series with Sarah Norris is now available on YouTube!
🧬 This episode explores the benefits, risks and challenges of sequencing the genome of newborns.
▶️ Watch here: youtu.be/t4FF9PeWglw?...
📢 Paper alert:
AlphaGenome offers a valuable tool for deciphering non-coding variant effects by unifying multimodal prediction, long-sequence context and base-pair resolution into a single framework.
Full article in Nature:
www.nature.com/articles/s41...
⏰ Only two more weeks to go!
The abstract submission deadline for #ESHG2026 #HybridConference is fast approaching.
🗓️ Deadline: Thursday, 12 February 2026, 23:59 CET
Don’t forget to submit your abstract!
👉 All details here: 2026.eshg.org/abstracts/
The abstract book of #eshg2025 has just been published!
Explore the latest research here 👉 www.nature.com/collections/...
👥Guidance for practice: ERN GENTURIS publishes a new guideline on reproductive counselling for individuals with cancer predisposition syndromes and their family members, aiming to improve consistency, quality, and patient-centred care.
www.nature.com/articles/s41...
🎥 The ESHG Webinar Series returns with Season 2 (2026)!
🗓️ Wednesday, 28 January | 14:00 CET
🎙️ Sarah Norris (Univ. of Sydney)
🧬 Newborn genome sequencing: benefits, risks & challenges
✅ Free to attend | 🔗 Zoom link will be on our website
🔔 Register for reminders: wma.eventsair.com/eshg-webinar...
📣 Poster Abstract Submission Reminder
Poster abstract submissions for our partners’ ECRD 2026 are open until 6 March 2026! Patient groups, researchers & healthcare professionals are encouraged to submit.
🔗 More info: www.rare-diseases.eu/posters/
🧾New study highlights the role of snRNA genes in Mendelian disease:
Heterozygous de novo and inherited variants in RNU4-2 and four RNU6 paralogs may explain up to 1.4% of previously unsolved cases of nonsyndromic retinitis pigmentosa.
www.nature.com/articles/s41...
🧬New Solve-RD study (18,462 individuals) provides practical recommendations for TTN variant interpretation and reporting in clinical genomic testing, from rare disease diagnostics to secondary findings and preconception counselling.
#TTN #GenomicMedicine
www.sciencedirect.com/science/arti...
📣New in EJHG:
In 38 RD-Connect cases with candidate genotypes in 10 mt-aaRS genes, a phenotype similarity score against a literature-curated HPO reference supported ACMG PP4 evidence, improving yield and offering a reusable framework for other cohorts.
www.nature.com/articles/s41...
📢 Out in AJHG:
De novo KDM2A variants cause a syndromic neurodevelopmental disorder. Functional assays and methylation data support this novel gene–disease association.
#RareDisease #NDD #EpiSignature
www.cell.com/ajhg/fulltex...
🎉✨ Happy New Year from ESHG!
It’s the last day of the year—but not too late to renew (or re-join) your ESHG membership for 2026 and avoid interruption of your access to the European Journal of Human Genetics (@ejhg-journal.bsky.social).
Start the new year with us! 🧬
📝 Registration is Open!
Registration for our partners’ European Conference on Rare Diseases & Orphan Products (ECRD), taking place 3–4 June 2026 in Prague & online, is now open.
💡 Register before 26 Feb 2026 to benefit from Early-Bird rates!
🔗 www.rare-diseases.eu/register/
🎄✨ Happy Holidays from ESHG!
We wish you a joyful holiday season, time to relax, and a refreshing start to the new year. Thank you for being part of our community!
📺 Now Online! Episodes 7 (Elfride de Baere) & 8 (Lisenka Vissers) of the ESHG Webinar Series are now available on YouTube: buff.ly/T5HTfyr
Zoom links for 2026 webinars will be shared on our website.
Sign up to receive reminders and updates: buff.ly/Hq48zjs
📢 Save the Date!
Our partners are hosting the European Conference on Rare Diseases & Orphan Products (ECRD) on 3–4 June 2026 in Prague & online.
🧬 Rare Diseases in a Changing & Competitive Europe — shaping policies to address unmet needs.
🔗 More info: www.rare-diseases.eu
📣 The ESHG DNA Day Essay & Video Contest 2026 is open! A yearly contest for high school students—submit now until DNA Day, April 25, 2026. Help promote genetics across Europe: spread the word to schools & educators! 🧬 More information: www.dnaday.eu
18.12.2025 09:07 — 👍 1 🔁 1 💬 0 📌 0
ESHG Membership Renewals are now open for individuals in Europe & beyond, with updated membership categories and fees.
🔗 View categories and fees: www.eshg.org/membership/m...
🔗 Join or renew now: cpeople.ctimeetingtech.com/eshg/members...
✨ Happy Holidays — and see you in the new year!
Abstract submission for #eshg2026 is open! The Scientific Programme Committee invites abstracts to be submitted for inclusion in the programme as posters or oral presentations until 12th February 2026. More information found on the conference website: 2026.eshg.org/abstracts/
15.12.2025 14:59 — 👍 4 🔁 3 💬 0 📌 0
🧬Pathogenic variants in snRNA genes seem to be a more frequent cause of Mendelian disorders than previously thought, with major relevance for #NDDs and retinal disease.
This Review summarizes recent advances and future perspectives in the field:
📄 www.nature.com/articles/s41...
📢 The December issue of #EJHG is online! 🧬
New genes, new discoveries, new insights in #HumanGenetics
⬇️⬇️⬇️
www.nature.com/ejhg/volumes...
📄New in @AJHGNews: Recurrent structural variants at 16p13.3 palindrome cause a novel neurodegenerative disorder with progressive ataxia, cognitive decline and distinctive brain MRI pattern, highlighting ATP6V0C dosage.
Read more:
www.cell.com/ajhg/fulltex...
📊Large-scale data sharing is indispensable for human genetics & genomics. ASHG calls for a broad data-sharing ethos and responsible stewardship that protects participants while enabling collaboration.
#HumanGenetics #OpenScience
www.cell.com/ajhg/fulltex...
📢Paper alert!
Read about popEVE, a deep generative model that ranks missense variants by deleteriousness across the proteome, by combining evolutionary and population data. It flags novel genes and can identify causal variants even in singleton exomes.
www.nature.com/articles/s41...
🧬 Episode 8 of the ESHG Webinar Series is coming up on Nov 26, 2025 at 16:00 CET!
Lisenka Vissers (Radboudumc, NL) will speak on translating long-read genome sequencing into clinical applications for rare diseases.
Free via Zoom – registration required.
wma.eventsair.com/eshg-webinar...
🤝 We’re delighted to partner with the Japanese & American societies for the joint symposium “Genetics and Genomics Surrounding Newborn Screening” on Dec 19 at the 70th JSHG Annual Meeting in Yokohama.
Programme: congre.co.jp/jshg2025/en/program.html
🕒 Last call!
Applications for the 2026 ESHG Mentorship & Observership Programmes close Nov 30, 2025.
Funding available for training visits in genetics 🌍🧬
Apply now & share with interested colleagues!
www.eshg.org/education/es...
www.eshg.org/education/es...
New study in Nature Biotech reveals most mitotic errors in human embryos occur in the placenta-precursor cells, not the inner cell mass that forms the fetus. 🧬
Findings could reshape how IVF clinics interpret PGT-A results.
#IVF #Embryology #Biotech
www.nature.com/articles/s41...
