Today was the last day of the 35th EuroDysmorpho Conference in Vilnius. The ESHG-Young contributed to the scientific content, and Silvia Kalantari, our current chair, had the chance to showcase our activities. See you all in Pavia for #EuroDysmorpho 2026! @eshg.bsky.social @silk93.bsky.social

We are deeply saddened by the passing of Albert Schinzel (1944–2025), former ESHG President and pioneer in clinical cytogenetics. His legacy includes the Catalogue of Unbalanced Chromosome Aberrations in Man and the Goldrain Course. Read more:

@ejhg-journal.bsky.social is now actively sharing updates, publications, and announcements on Bluesky. If you haven’t connected with them yet, we’d love to invite you to follow the account.

📢 Episode 5 of the #ESHG Webinar Series is on Wednesday, July 30 at 16:00 CEST! 🧬 Speaker: Siddharth Banka: "From Chromatinopathies to Episignatures" 💻 Registration is free but required: wma.eventsair.com/eshg-webinar... 📩 Past registrants will receive the Zoom link automatically.

Today, the Scientific Programme Committee wrapped a fantastic and exciting programme for #eshg2026 conference! More information will available on our conference website soon. We look forward to welcoming you in Gothenburg!

🚀 AI is reshaping clinical genetics! This latest review by Duong & Solomon outlines how machine learning, deep learning, and generative AI are transforming diagnostics, management, lab workflows, and administrative processes 🔗 Open-access review👇 www.nature.com/articles/s41...

The Greek government’s decision to delegate newborn screening to private organisations without prior public consultation raises concerns about transparency and ethical oversight. Read the full ESHG statement for details: www.eshg.org/news-home/fo... #NewbornScreening #PublicHealth #eshg

📢 Episode 4 of the #eshg Webinar Series is on June 25 at 16:00 CEST! 🧬 Speaker: Kaitlin Samocha on variant interpretation using population data 💻 Registration is free but mandatory: wma.eventsair.com/eshg-webinar... 📩 Past registrants will receive the Zoom link automatically.

🧠 New Insights on reproductive and cognitive phenotypes in carriers of recessive pathogenic variants. This research highlights how even being a carrier of variants in genes associated with ID may impact cognitive development and academic outcomes. www.nature.com/articles/s41... #CognitiveScience

We thank you @iamslambert.bsky.social for the incredible contribution to this course! A unique opportunity for attendees to gain insights into large-scale genomic databases like @pgscatalog.bsky.social. 🙌 #ESHG2025

Grateful to EduComm @eshg.bsky.social for this amazing opportunity. Huge thanks to @gosiatrynka.bsky.social for hosting me at @sangerinstitute.bsky.social and to my supervisor @KatriLindfors for her support. This observership has expanded my academic aspirations ahead for sure. #eshg2025

ESHG Mentorship scheme awardees 2025 • Nesibe Bulut Turkey to Vienna, Austria • Tea Mladenić Croatia to Jena, Germany • Melda Erdoğdu Turkey to Linköping, Sweden • Lein Dofash Australia to Exeter, UK • Daniela Oliveira Portugal to Stockholm, Sweden #ESHG2025

#ESHG2025 Dian Donnai and Jill Clayton-Smith Prize for Dysmorphology 2025 Winner: Emre Akbas, Eskisehir, Turkey

SHG2025 ELPAG Early Career Award for the best presentation on Ethical, Legal and Psychosocial Aspects of Genetics Tara Maria Hoffmann, Hamburg, Germany "Identity Crisis and Emotional Strain in Parents of Children with Rare and Undiagnosed Conditions: A Qualitative Study"

#ESHG2025 Mia Neri Award for best presentation in cancer research. Jingzhan Lu,Exeter, United Kingdom "Predicting prostate cancer by combining Prostate Specific Antigen (PSA) test results with Genetic Risk Scores (GRS)"

#ESHG2025 Vienna Medical Academy Award: Best presentation in translational genetic reserach/therapy of genetic diseases. Christina Marie Kajba, London, UK "A pooled prime editing platform in haploid human cells for high throughput variant screening"

#ESHG2025 Lodewijk Sandkuijl Award: Best presentation in the field of complex disease and statistical genetics. Cal Liao, Cambridge, United States "The landscape of structural variation in bipolar disorder and schizophrenia across the frequency spectrum of diverse populations"

#ESHG2025 Isabelle Oberlé Award: Best presentation by an ECR on research concerning the genetics of intellectual disability. Natalie B. Tan, Parkville, Australia "UPF1 variants cause syndromic intellectual disability with a transcriptome profile convergent with fragile X syndrome"

ESHG2025# Early Career awards: For outstanding science presented at the conference - Allison Newman, Exeter, UK - Hristiana Lyubenova, Berlin, Germany - Robin J. Hofmeister, Lausanne, Switzerland - Pau Clavell-Revelles, Barcelona, Spain

Best Poster in Clinical Research Rebeka Luknárová, Munich, Germany P16.006.A - "Harmonized framework for RNA-seq-based rare disease diagnostics in a pan-continental consortium - Solve-RD"

#ESHG2025 Best Poster in Basic Research Eva Vanbelleghem, Ghent, Belgium P06.004.C – "Zebrafish as a model for Myhre syndrome: growth deficits and vascular narrowing"

#ESHG2025 Poster Prize: Honorary Mentions: - Ivana Džinovic (Munich, Germany) - Noemi Castelluccio (Ghent, Belgium) - Hilal Piril Saraçoglu (Istanbul, Turkey) - Chiara Leso (Turin, Italy) - Rhys Dore (London, United Kingdom)

GertJan van Ommen Citation Awards: 1. Analysis of large-language model versus human performance for genetics questions. 2. Dutch Pharmacogenetics Working Group (DPWG) guideline 3. Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing #ESHG2025

Make sure to join this year’s Mendel Lecture by Katalin Karikó at 13:30 CEST in the Gold Room followed by the ESHG Awardee Daniel MacArthur #eshg2025

Wrapping up the last concurrent session at #eshg2025! At the Gold Plenary “C32 Beyond common variants – pop sequencing and CNVs” delivered outstanding methods. From haplotype-informed analyses, meta-analyses to genetic diversty—pushing the frontier in decoding rare variants and complex traits. #gwas

Missed a presentation at #eshg2025? Do not worry as all talks will be available on-demand until November 30, 2025!

🌟 Trainees & Recruiters! 🌟 Don't miss the #ESHG2025 MatchMaking! Whether you're ready to take the next step in your career or seeking fresh talent, join us today at the #ESHG-Y booth 546 in Hall 4 at 12:00 hrs CEST. Let's connect and advance our careers in #genetics together!

Multiomics approaches enabled identification of a rare CCG repeat expansion that leads to hypermethylation and silencing of BCLAF3 in undiagnosed patients with NDD #eshg2025 -Methylation array: DMRs identif -srWGS: STR identif -RNAseq: gene silencing -LR ONT: validation of methylation+expansion

If you are a member of @eshg.bsky.social do not forget to join the general meeting today at 12:15 #eshg2025

Interested in the latest #genetics research results? Join the Late Breaking Abstracts Session at #eshg2025 at 10:30 CEST chaired by our AMC chair Joris Veltman and ESHG-Y chair Mridul Johari.

📍Second day of #ESHG2025 and here’s a quick recap of this morning’s sessions: 🧬 W04 – Long-read sequencing for beginners A great workshop where I tried to dive deeper into long-read analysis 🔍. Also got to learn about de novo assemblies using long-read data!

Chiara Auwerx, on CNVs: Variable expressivity and incomplete penetrance are the norm rather than the exception. #ESHG2025

🍹Young Human Geneticists Networking Event starts today already at 19:00h at Spoon Restaurant & Lounge (Viale Bligny 39, 20136 Milan)🍸 Please note that: The timing printed on the ticket (20:00h) is not correct. The event starts at 19:00 It takes appr. 40 minutes with public transportation #ESHG2025

🔈Call for Trainees and Early-Career Geneticists🔈 ⏰The ESHG-Young @eshgyoung.bsky.social MatchMaking event is about to start! Join us on 25th and 26th May, from 12:15 to 13:15 CEST, at Booth #546, Hall 4 during at #ESHG2025 No registration is needed for young geneticists — just come by and connect!

🔈ESHG-Young Committee Election Results are out!🗳️ 🔈107 members voted. The top 3 candidates received 17, 14, and 11 votes, respectively. Two candidates tied with 11 votes, and as a result, we are delighted to announce that 4 new Committee members will join the Board this year! @eshgyoung.bsky.social

Welcome our new @eshgyoung.bsky.social Committee Members! 🧬 4 new members will be joining the ESHG-Young Committee this year! Maria Francesca di Feo (Italy/Finland) Nelson Martins @nelsonm1224.bsky.social (Belgium) Mathys Weber (France) Ewelina Bukowska-Olech (Poland) #ESHG2025 @eshg.bsky.social

Kicking off Day 2 at #eshg2025 with the Gold Plenary session "Genetics at single cell resolution" — an impressive talk by Nicole Soranzo disentangling the signatures of diseases with single-cell analysis. Excited for the upcoming free open access to all this incredible data! #Genetics #sceQTL

At #ESHG2025 + Using BlueSky = use our *starter pack* to stay up to date! A list of many of the most active and followed accounts in European Genomics You may even be in our list!

📢 Follow ESHG on Bluesky! @eshg.bsky.social‬! We’ve prepared a starter package to help you join easily. 🔗 go.bsky.app/RsMKmCE Let’s build the ESHG community together!

Who licks bones found in excavation sites? Archaeologists! To test if it's a bone or a stone. Johannes Krause at #eshg2025 on tackling modern human DNA contamination of samples from archaeological sites.

Thank you @eshgyoung.bsky.social for the opportunity to discuss about Romanian young geneticists training programe, challenges and future perspectives at the Get2Gether event! #eshg2025

And here @ahoischen.bsky.social, Chair of the @eshg.bsky.social Scientific Programme Committee (SPC), introduces the incredible team behind the scenes who built this year’s fantastic #eshg2025 programme!🧬

A warm welcome from @eshg.bsky.social President William Newman! The fantastic #eshg2025 has officially got statred in Milan! 🤩

Join @eshgyoung.bsky.social for the Happy Hour starting at 13:15 at #ESHG2025 Space 3, Level 0 🍹 Meet you trainee geneticists network and ESHG-Young Committee Members. We look forward to seeing you!🥂No registration needed, just come by.

First meeting of ESHG social media committee 2 years ago in Glasgow 🤩 Looking forward to seeing you (and all our newer members!) in Milan #ESHG2025

Getting ready for #eshg2025 …and our postdoc @lydiasagath.bsky.social made a nice BINGO card again. Paying a lot of attention to the entire event will pay off!

🇧🇷 Alô colegas do Brasil! 1. Não poderá participar presencialmente do #eshg2025 em Milão? Ainda pode acompanhar o evento online! 💻🧬 As inscrições estão abertas até 27 de maio e dão acesso a sessões científicas de altíssimo nível — ficarão disponíveis na plataforma após a conferência.

Just landed in Milan for #eshg2025!🧬 Excited for another incredible program from the SPC. Especially excited to kick off the 1st ed. of the @eshg.bsky.social pre-meeting course: "Unleashing the Power of Large-Scale #Genomic Public #Databases". Looking forward to welcome all the participants! 🙌

The #eshg2025 virtual platform & the ESHG 2025 app are now online! Read through our tips of using the platform, check out the conference programme and prepare your visit to Milan today: 2025.eshg.org/myconference...

📢📢📢Curious about who will shape the future of the @eshgyoung.bsky.social ?📢📢📢 The voting 📩results for the new ESHG-Y Committee Members will be announced at our Get2Gether session during #ESHG2025 on Saturday 24th May 12:15-13:15 CEST, Room 3, Level 0. No registration needed, just come by🧬