European Society of Human Genetics

When should patients with pituitary adenomas undergo genetic testing? Pituitary Society consensus statement provides evidence-based recommendations on who should be tested, which genes to include and how genetic results can inform clinical management and follow-up. www.nature.com/articles/s41...

Phenome-wide map of 467k+ UK Biobank genomes highlights massive impact of structural variants (SVs) on human health: 🔹 37,063 SV-trait associations across 18k+ phenotypes & proteins 🔹 Rare SVs exert powerful effects on disease risk 🔹 82%+ of SVs hidden from prior copy-number studies buff.ly/qFaqvuD

Are longer telomeres always better? Think again! 🧬 A new @NatRevGenet review by Stuart et al. shows telomere shortening is actually a vital defense against cancer. Activating telomerase for anti-aging could carry real risks. Read more: www.nature.com/articles/s41...

Presenting your research at International Congress of Human Genetics 2027? 🧬 ESHG offers 10 fellowships for presenters of accepted abstracts. 📅 Deadline: 2 Nov, 23:59 CET 👉 Find out more and apply: buff.ly/9OEexsv

📄 New paper in AJHG reporting the genetic architecture of pentanucleotide repeats (PNTR) 🧬 Genome-wide reference of PNTR ☑️ Establishing principles of PNTR variation ⚖️ Useful for interpreting repeat alleles, prioritising candidate loci & diagnostic discovery 🔗 www.cell.com/ajhg/fulltex...

📄 A Nature Communications study found rapid whole genome sequencing feasible and clinically useful as a first-line test in childhood cancers: 💊 Faster targeted therapy 📊 Risk stratification 🛑 Fewer unnecessary tests and treatment escalations 🔗 www.nature.com/articles/s41...

📄 New study published In Genetics in Medicine describes the clinical phenotype associated with prenatal exposure to non-prescription fentanyl and the characteristics of fetal fentanyl syndrome 🔗 www.gimjournal.org/article/S109...

📢 Joint ICHG and ESHG Webinar 📅 Oct 28, 2026 | 🕓 16:00 CET 💻 Free online via Zoom 🎤 Simoni Avansini: Brain organoids & neurodevelopmental disorders 🎤 Andres Moreno-Estrada: Mexican Biobank Project Sign up for Zoom Link & updates: wma.eventsair.com/eshg-webinar... #ESHG #ICHG #Genomics #Genetics

Long waits for clinical genetics services cause real harm. A new review in Eur J Hum Genet highlights risks like rising non-attendance, persistent distress, and family-level harms. Better waiting-list management and system-level action are urgently needed. www.nature.com/articles/s41...

🧬 What can we learn from genomic newborn screening worldwide? Experiences from >10,800 newborns on implementation, clinical impact, and the path toward integrating genomics into newborn screening 👇 www.sciencedirect.com/science/arti...

New recommendations on returning secondary genomic findings to research participants, including polygenic risk scores and pharmacogenomics. The focus is also on equity, community engagement and the practicalities of returning results at scale 🧬. www.nature.com/articles/s41...

What can rare disease teach us about the noncoding genome? A new Review explores disease-causing variants in promoters, enhancers and silencers, their mechanisms of action, and the challenges of interpreting regulatory variation in human disease. 🔗https://www.nature.com/articles/s41588-026-02743-3

#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

⏳ 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/

📢 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

📢 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...

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...

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...

📢 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

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...

🧬 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...

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...

🧬 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

🧬 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...

🧬 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

🧬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...

📢 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

🧬 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

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/...

🧬 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

🧬 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

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...

🧬 #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

🧬 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...

🧬 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

📄 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

⏰ #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

🧬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...

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...

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

📢 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...

🧬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...

📊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

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

🗳️ 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

🧬 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...

#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!

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