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European Society of Human Genetics

@eshg.bsky.social
853 followers 53 following 307 posts

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.

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European Society of Human Genetics @eshg.bsky.social · 28/09/2026
#eshg2026 brought together 6,000+ participants with more than 352 talks and 2,600+ posters. 📷 Photos from ESHG 2026: flic.kr/s/aHBqjCWyvG Save the date for #eshg2027 in Rotterdam! 📅 June 12–15, 2027 Book your hotel & benefit from special rates: 2027.eshg.org/myconference... #Genetics #Genomics
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European Society of Human Genetics @eshg.bsky.social · 24/09/2026
⏳ Last chance to register for #ESHG2026 online! Registration closes Sept 30. 💻 On-demand sessions will be available until Nov 30, 2026. 👉 2026.eshg.org/registration/
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European Society of Human Genetics @eshg.bsky.social · 16/09/2026
📢 New ESHG–ISPD recommendations on prenatal genomic sequencing 📖 Read the full article in the European Journal of Human Genetics: www.nature.com/articles/s41... #ESHG #ISPD #Genomics #Genetics #HumanGenetics #PrenatalSequencing
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European Society of Human Genetics @eshg.bsky.social · 16/09/2026
📢 ASHG–ESHG Joint Webinar: Careers in the Public Sector 📅 Sept 30, 2026 | 🕓 16:00 CEST | 💻 Zoom | FREE Join Amna Khamis, Ayse Demirkan & Michael Talkowski for an interactive panel on pathways, scientific roles, and advice for early-career researchers. 👉 Register: wma.eventsair.com/eshg-webinar...
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European Society of Human Genetics @eshg.bsky.social · 10/09/2026
The deadline for abstract submissions for ICHG is September 17, 2026. ESHG will offer 10 travel fellowships of EUR 1,000 each to support ESHG members with an accepted abstract attending the International Congress of Human Genetics (ICHG) 2027 in Guadalajara, Mexico. ic.relagh.org/evento/1/res...
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European Society of Human Genetics @eshg.bsky.social · 08/09/2026
📢 Open Access funding opportunities for EJHG authors Many universities and research institutions have agreements with Springer Nature that may cover the APC for publishing open access in the European Journal of Human Genetics. Check here: www.nature.com/ejhg/open-ac... #Genetics #Genome #EJHG
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European Society of Human Genetics @eshg.bsky.social · 04/09/2026
New in #Nature: a population-scale analysis of 2,110 complete human centromeres reveals great sequence, structural and epigenetic diversity, defining 226 major centromere haplotypes and linking variation to kinetochore positioning and centromere evolution. www.nature.com/articles/s41...
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European Society of Human Genetics @eshg.bsky.social · 02/09/2026
📢 Applications are now open for the #ESHG Mentorship & Observership Programmes! 🎉 Gain international experience with funding up to €2,000. Apply now! 🔗 www.eshg.org/education/es... 🔗 www.eshg.org/education/es... 📅 Application deadline: November 30, 2026 #ESHG #Genomics #Genetics
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European Society of Human Genetics @eshg.bsky.social · 31/08/2026
New in AJHG: Large-scale exome analysis of >400k individuals links rare coding CNVs (like ABCA1 & 22q11.21 deletions) to increased Alzheimer risk. Remarkably, 22q11.21 duplications offer strong AD protection by increasing amyloid-β uptake via SCARF2. www.cell.com/ajhg/fulltex...
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European Society of Human Genetics @eshg.bsky.social · 28/08/2026
🧬 Combining polygenic risk scores (PRS) & family history improves heart disease prediction beyond standard clinical calculators. A new study of 250k+ adults shows these risk factors are independent, additive, and consistent across White, Black, and Latino populations. 👉️ www.cell.com/ajhg/fulltex...
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European Society of Human Genetics @eshg.bsky.social · 24/08/2026
Variants of Uncertain Significance (VUS) remain a major hurdle in precision oncology. New in #EJHG: an integrative framework combining 10 in silico tools with functional data to prioritize real-world #BRCA1/2 VUS for clinical care. www.nature.com/articles/s41...
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European Society of Human Genetics @eshg.bsky.social · 21/08/2026
🧬 Repeat-expansion disorders remain challenging to resolve with conventional approaches. New Perspective explores how LRS can capture repeat size, composition, mosaicism and methylation - and its growing role in research and clinical diagnostics. 👉https://www.nature.com/articles/s41588-026-02694-9
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European Society of Human Genetics @eshg.bsky.social · 20/08/2026
🧬 How can structural variants help solve undiagnosed rare diseases? A new #EJHG study explores pathogenic structural variation in families with rare disease, highlighting its contribution to genetic diagnosis 👉 www.nature.com/articles/s41...
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European Society of Human Genetics @eshg.bsky.social · 17/08/2026
🧬 Improving genetic diagnosis in rare neurological diseases 31 experts from 11 European countries agreed on 27 recommendations for NGS-based genetic testing, supporting high-quality harmonised diagnostics. 👉https://www.nature.com/articles/s41431-026-02198-4
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European Society of Human Genetics @eshg.bsky.social · 14/08/2026
🧬Who should get rapid genomic sequencing in the NICU? A new #EJHG Review finds most studies rely on phenotype-driven selection, while genotype-first approaches may broaden access and reduce missed diagnoses. Full review: www.nature.com/articles/s41...
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European Society of Human Genetics @eshg.bsky.social · 13/08/2026
📢 Out now in EJHG! 🧬 Episignature analysis improved classification of CHD8 missense VUS. Combined with molecular modelling and detailed phenotyping, it supports a loss- or reduced-function mechanism for pathogenic CHD8 missense variants. 👉https://www.nature.com/articles/s41431-026-02209-4
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European Society of Human Genetics @eshg.bsky.social · 12/08/2026
🧬 Join the ESHG Course on Translational Epigenetics in Precision Medicine! 📅 31 October–3 November 2026 📍 Telavi, Georgia 💡 Limited ESHG fellowships available More information and registration: geneticsgeorgia.org/language/en/... #Epigenetics #PrecisionMedicine #Genomics #ESHG #Genetics
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European Society of Human Genetics @eshg.bsky.social · 11/08/2026
A @ScienceMagazine study solves a genetic puzzle: the X chromosome is rich in L1 retrotransposons because they preferentially insert into the inactive X (Xi). Silent in mothers, these insertions are passed to XY sons, roughly doubling the rate of X-linked disease. www.science.org/doi/10.1126/...
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European Society of Human Genetics @eshg.bsky.social · 10/08/2026
🧬 Call for Abstracts – ICHG 2027 Submit your work for the 15th International Congress of Human Genetics. 📅 1–5 March 2027 📍 Guadalajara, Mexico ⏰ Submission Deadline: 17 September 2026 👉 Submit your abstract: ic.relagh.org/evento/1/res... #ICHG2027 #IFHGS #HumanGenetics #Genetics #Genomes #ESHG
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European Society of Human Genetics @eshg.bsky.social · 10/08/2026
🧬 3rd ESHG Training Course on Pharmacogenomics 📅 11–13 November 2026 📍 Manchester, UK 🎓 CPD accredited from the Royal College of Physicians 👉 Register now: www.mrcc.org.uk/events/eshg-... #ESHG #Pharmacogenomics #Pharmacogenetics #Genetics #Genomes
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European Society of Human Genetics @eshg.bsky.social · 06/08/2026
Genomic newborn screening could enable earlier diagnosis - but it may also create uncertainty, overdiagnosis and pressure on healthcare resources. A new Comment considers how to balance benefits and harms while strengthening diagnostic services. 👉 www.nature.com/articles/s41...
nature.com
Reducing the diagnostic odyssey in rare disease: why screening is not the only answer - Nature Medicine
The timely detection of rare diseases is crucial, and using a range of approaches will be key to reducing the diagnostic odyssey.
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European Society of Human Genetics @eshg.bsky.social · 06/08/2026
🧬 #ESHG Syndromology & Dysmorphology Course 📅 14–16 October 2026 📍 Manchester, UK The curriculum will cover clinical approach, dysmorphology, genomics, mechanisms, treatments and the patient voice in genomic syndromology. 👉 Register now: www.mrcc.org.uk/events/manch... #Genetics #Dysmorphology
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European Society of Human Genetics @eshg.bsky.social · 05/08/2026
🧬 Publication from ERN GENTURIS: cancer surveillance guideline for individuals with PTEN hamartoma tumour syndrome 🔗 Guideline: www.genturis.eu/l=eng/guidel... 📄 Paper in EJHG: www.nature.com/articles/s41... 🎧 Genturis Genes Podcast: www.linkedin.com/posts/ern-ge...
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European Society of Human Genetics @eshg.bsky.social · 04/08/2026
🧬 New studies show how SVs downstream of FOXG1 can disrupt its regulation and contribute to a FOXG1-like NDD. Together, they reveal distinct regulatory loci and provide new insight into the locus’s 3D organisation. 👉https://buff.ly/UVhWtWk 👉https://buff.ly/Nvidv1E
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European Society of Human Genetics @eshg.bsky.social · 03/08/2026
📄 New publication from Orphanet in JMIR Medical Informatics: “The Orphanet Nomenclature and Classification of Rare Diseases for Improved Patient Recognition and Data Interoperability: Qualitative and Quantitative Analysis” 🔗 medinform.jmir.org/2026/1/e84553
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European Society of Human Genetics @eshg.bsky.social · 20/07/2026
⏰ #ESHG Webinar is next week! 📅 Wednesday, 29 July 2026 🕓 16:00 CEST 🗣️ Karoline Kuchenbäcker (University College London, UK) on "Ancestral diversity in genetics: From discovery to translation" 👉 Register to receive the Zoom link by email: www.eshg.org/webinarseries #Genetics #Genome #Genomics
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European Society of Human Genetics @eshg.bsky.social · 18/07/2026
🧬New guidance from the Association for Clinical Genomic Science (ACGS) on the analysis of structural variants from WGS data acrobat.adobe.com/id/urn:aaid:... 🎥Training videos: 
eqa.genqa.org/p/eqa/home 📘ACGS 2024 UK Practice Guidelines: 
www.genomicseducation.hee.nhs.uk/wp-content/u...
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European Society of Human Genetics @eshg.bsky.social · 17/07/2026
New in Frontiers of Public Health: A framework for referring infants with positive genetic newborn screening results to the appropriate European Reference Network, supporting timely and equitable rare disease care across Europe. 🧬 🔗 www.frontiersin.org/journals/pub...
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European Society of Human Genetics @eshg.bsky.social · 08/07/2026
This week, the Scientific Programme Committee wrapped a fantastic and exciting programme for #eshg2027 conference! More information will available on our conference website as of October 2026. We look forward to welcoming you in Rotterdam! 2027.eshg.org
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European Society of Human Genetics @eshg.bsky.social · 07/07/2026
📢 Registration is open! Covering The Gaps – The Course You Didn’t Know You Needed 🗓️ 26–27 Nov 2026 💻 Online 💶 €149 🎓 CME credits applied for We look at ethics, quality, regulation, data sharing, return of results, research integrity & more 🔗 www.eshg.org/covering-the...
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European Society of Human Genetics @eshg.bsky.social · 01/07/2026
🧬New Perspective explores near-perfect genome sequencing (NPGS): convergence of long-read sequencing, diploid assembly, pangenome references and AI-driven interpretation. A step toward a one-test paradigm that may reshape genetic diagnostics. Read more: www.nature.com/articles/s41...
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European Society of Human Genetics @eshg.bsky.social · 30/06/2026
📊New study introduces Talos, an open-source tool for automated, iterative reanalysis of genomic data. When applied to an undiagnosed cohort, Talos added 5.1% diagnostic yield, showing the potential of systematic reanalysis in rare disease diagnostics. buff.ly/kUqOIBs
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European Society of Human Genetics @eshg.bsky.social · 24/06/2026
A study of 173,303 exomes and genomes from the Pakistan Genome Resource highlights the value of sequencing diverse populations. Homozygous LoF variants were found in 1/3 of protein-coding genes, while nearly half of all identified variants were absent from existing databases. buff.ly/Ko8sgJ0
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European Society of Human Genetics @eshg.bsky.social · 18/06/2026
🗳️ It's time to vote! The #eshg2026 Photo Competition finalists have been selected. While there were no entries for Best Virtual Setup, we have some great contenders for: 📸 Best Selfie 😂 Funniest Picture 👉 Vote here: forms.gle/WVNYz4rXChGr... ⏰ Voting closes Monday, 22 June
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European Society of Human Genetics @eshg.bsky.social · 18/06/2026
🧬 New ACMG statement on reporting VUS in germline genetic and genomic testing. Key points: phenotype-relevant VUS in symptomatic individuals, VUS subclasses, follow-up recommendations, reclassification updates, data sharing & collaboration. www.sciencedirect.com/science/arti...
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European Society of Human Genetics @eshg.bsky.social · 16/06/2026
#eshg2026 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 #eshg2027 in Rotterdam!
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European Society of Human Genetics @eshg.bsky.social · 16/06/2026
ESHG Mentorship scheme 2026 We want to thank the Mentors: Reedik Mägi - University of Tartu, Estonia Joris A Veltman - University of Edinburgh, UK Sarah Stewart - University of Manchester, UK Jean-Laurent Casanova - Imagine Institute, France Kristiina Tammimies - Karolinska Institutet, Sweden
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European Society of Human Genetics @eshg.bsky.social · 16/06/2026
We also want to thank the Supervisors: James M. Allan - Newcastle University, UK Peter Krawitz - University Hospital Bonn, Germany Lyubov Yevtushok - Manchester Rare Conditions Centre, UK Borut Peterlin - UKC Ljubljana, Slovenia Tjitske Kleefstra - Erasmus MC, The Netherlands #eshg2026
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European Society of Human Genetics @eshg.bsky.social · 16/06/2026
#eshg2026 Dian Donnai and Jill Clayton-Smith Prize for Dysmorphology 2026 Winner: Andreya Yaneva (Varna, Bulgaria) I14.7 – Negative genetic investigations in a patient with neurodevelopmental delay and multiple congenital anomalies
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European Society of Human Genetics @eshg.bsky.social · 16/06/2026
#eshg2026 ELPAG Early Career Award for the best presentation on Ethical, Legal and Psychosocial Aspects of Genetics Bibiana Patrícia Ribeiro (Porto, Portugal) Still Becoming: Global Reflections on the Future of the Genetic Counselling Profession Presentation Number: C35.2
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European Society of Human Genetics @eshg.bsky.social · 16/06/2026
#eshg2026 Mia Neri Award for best presentation in cancer research. Franziska Oberhammer (Utrecht, Netherlands) Using a tumour-based classifier to identify genetic predisposition in Wilms tumour Presentation Number: C40.4
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European Society of Human Genetics @eshg.bsky.social · 16/06/2026
#eshg2026 Vienna Medical Academy Award: Best presentation in translational genetic reserach/therapy of genetic diseases. Jelisaveta Džigurski (Tartu, Estonia)
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European Society of Human Genetics @eshg.bsky.social · 16/06/2026
#eshg2026 Lodewijk Sandkuijl Award: Best presentation in the field of complex disease and statistical genetics. Théo Schneider (Helsinki, Finland) Accurate maternal and paternal haplotype inference reveals new parent-of-origin effects in the Finnish population Presentation Number: C36.2
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European Society of Human Genetics @eshg.bsky.social · 16/06/2026
#eshg2026 Isabelle Oberlé Award: Best presentation by an ECR on research concerning the genetics of intellectual disability. Timothy Edward Green (Melbourne, Australia)
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European Society of Human Genetics @eshg.bsky.social · 16/06/2026
#eshg2026 Early Career awards: Bryce Sebastian Rampal (Montréal, CA) Tanja Frey (Zurich-Schlieren, CH) Anthony Edward Francis McGuigan (Oxford, UK) Irena Josephina Johanna Muffels (Utrecht, NL) Samuel Moix (Lausanne, CH) Lea M Urpa (Helsinki, FI) James Russ-Silsby (Exeter, UK)
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European Society of Human Genetics @eshg.bsky.social · 16/06/2026
#eshg2026 Best poster awards Best Poster in Basic Research: Mihkel Jesse (Tartu, Estonia) Best Poster in Clinical Research: Francesco Pintus (Turin, Italy) Look at these posters on the Virtual Conference Platform 💻️
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European Society of Human Genetics @eshg.bsky.social · 16/06/2026
#eshg2026 Poster Prize Honorary Mentions: Lisa Pavinato (Bellinzona, Switzerland) Robin Wijngaard (Nijmegen, Netherlands) Tuomo Kiiskinen (Stanford, United States) Brianna Louise Kline (Parkville, Australia) Agathe Bugnon (Nantes, France) Look at these posters on the Virtual Conference Platform 💻️
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European Society of Human Genetics @eshg.bsky.social · 16/06/2026
Tune in at 15:25 CEST to meet this year’s winners of the Gert Jan Van Ommen Citation Awards presented by @ejhg_journal, the Early Career Award Winners, the Dian Donnai & Jill Clayton-Smith Award Winners and the #eshg DNA Day Winners 2026!
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European Society of Human Genetics @eshg.bsky.social · 16/06/2026
Guillaume Canaud, Mendel Lecturer at #eshg2026! Professor Canaud is internationally recognised for his pioneering research into the molecular mechanisms of rare vascular disorders and for translating genetic discoveries into targeted therapies that are transforming patient care #Genetics #Genomics
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European Society of Human Genetics @eshg.bsky.social · 16/06/2026
🏆 Congratulations to Tuuli Lappalainen, ESHG Award Lecturer 2026! In her Award Lecture, Professor Lappalainen will discuss the next steps in interpreting these effects and the tools that will help researchers uncover the molecular mechanisms underlying genetic variation. #Genetics #eshg2026
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