@eshg
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.
🧬Introducing the 2026 Special Issue of the EJHG on DNA testing in public health screening programs. As screening moves from targeted testing to genome-wide approaches, key questions remain around benefit, harm, consent, equity, governance and follow-up.
www.nature.com/articles/s41...
👥 Guidance for practice: the first international guideline for Kleefstra syndrome is now available.
📋 It includes 66 tailored recommendations to support standardised care and improve clinical decision-making.
#RareDisease #Genetics
Full guideline: www.gimjournal.org/article/S109...
📢 Deadline approaching: Call for Poster Abstract Submissions – ECRD 2026
Open to patient groups, academics, healthcare professionals & all working in rare diseases or public health.
🗓 Deadline: 6 March
Submit here: www.rare-diseases.eu/posters/
#ECRD2026 #RareDiseases #OrphanProducts
Pre-Conference Courses at #ESHG2026 – Registration is now open!
Join us in Gothenburg on June 11–12 for our on-site courses.
• Clinical NGS Data Interpretation Course
• Teach the Teacher Genetics
• Unleashing the Power of Large-Scale Genomic Public Databases
2026.eshg.org/satellite-me...
Have you already submitted your consented, distinctive unsolved or instructive solved cases to #ESHG2026? Submit today! The best case presentation from a trainee in medical/clinical genetics will receive the “Dian Donnai and Jill Clayton-Smith” prize. 2026.eshg.org/programme-at...
🧬 “Navigating the future of genetics” 2026 EuroGentest Webinar
Join us on April 1, 2026 (11:00–12:00 & 13:00–13:30 CEST) for key updates on quality assurance, regulations and professional standards in clinical and laboratory genetics.
Registration free, but mandatory: www.eshg.org/courses/eshg...
3100+ abstracts submitted for #ESHG2026 — thank you! With such an exciting programme ahead, now is the time to secure your place at our #HybridConference. Registration is OPEN — benefit from the early bird fee until April 16, 2026 👉 2026.eshg.org/registration/
📢 New study presents DeepRare, an agentic LLM-based system for rare disease prioritization.
🧬 It generates ranked diagnostic hypotheses from multimodal patient data with evidence-based reasoning, outperforming other approaches in diagnostic accuracy.
www.nature.com/articles/s41...
Case submission for the Dysmorphology Interactive Sessions during #ESHG2026 is now open! Submit your cases to be presented in Gothenburg until March 17. Shortlisting of presentations will be based on expert review. More information: 2026.eshg.org/programme-at...
On behalf of the EuroGentest Committee, we are happy to share the following survey on integrating genomic data into EHRs.
Help identify legal frameworks, barriers & best practices across Europe.
🗓 Please complete until Friday, 20 February
🔗 survey.kuleuven.cloud/229778?lang=en
⏳ Final call for abstracts!
The extended deadline to submit your abstract for #eshg2026 is tomorrow (no exceptions possible). Don’t miss the opportunity to showcase your research and be part of the programme.
Submit now and find all details on the ESHG website: 2026.eshg.org/abstracts/
Abstract submission deadline extended to Monday, February 16, 23:59 hrs CET (no exceptions). Last chance to submit an abstract for inclusion in the programme of #eshg2026 #hybridconference! More information on: 2026.eshg.org/abstracts/
⏰ Tomorrow is the deadline!
Submit your abstract for #eshg2026 by Thursday, 12 February 2026, 23:59 CET 🗓️
Don’t miss the opportunity to showcase your research and be part of the #HybridConference.
📲 Details on the conference website: 2026.eshg.org/abstracts/
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