European Society of Human Genetics
@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.
🧬 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
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
#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
#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
#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
#eshg2026 Vienna Medical Academy Award: Best presentation in translational genetic reserach/therapy of genetic diseases. Jelisaveta Džigurski (Tartu, Estonia)
#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
#eshg2026 Isabelle Oberlé Award: Best presentation by an ECR on research concerning the genetics of intellectual disability. Timothy Edward Green (Melbourne, Australia)
#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)
#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 💻️
#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 💻️
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!
Since 2018, the European Society of Human Genetics has been presenting the ELPAG Award. It is presented to honour a scientist having made an important mark in the field of Ethical, Legal and Psychosocial Aspects of Genetics. #eshg2026 ELPAG Award laureate: Anne Cambon-Thomsen (Toulouse, France)
Make sure to join this year’s ELPAG Award Lecture by Anne Cambon-Thomsen at 13:30 CEST in Hall C followed by ESHG Awardee Tuuli Lappalainen and the Mendel Lecture by Guillaume Canaud #eshg2026
