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European Journal of Human Genetics @ejhg-journal.bsky.social · 16/06/2026

🚨Special Issue for #ESHG2026: “DNA in public health screening programmes” @eshg.bsky.social 🔹What should we screen for and report? 🔹What about uncertainty and harms? 🔹How can we deliver equitably and at scale? #Genomics #Screening #NewbornScreening 🔗 www.nature.com/collections/...

nature.com

DNA in public health screening programmes

The rapid technological progress makes it possible to use DNA testing in settings outside of clinical genetics services. This implies that public health ...

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Mohamed Wafik @mo-wafik.bsky.social · 15/06/2026

📢 Join us now at the #eshg2026 Social Media Workshop! 📱✨ 🎤 Interactive discussions, practical tips, and real-world strategies for using social media in genetics, genomics, education, and professional networking. @jamesfasham.bsky.social @aleenamolbio.bsky.social @tomwrightuom.bsky.social

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Mohamed Wafik @mo-wafik.bsky.social · 15/06/2026

#eshg2026 day 3! 🧬 Really enjoyed the Mendelian Disorders session at #eshg2026 this morning. Fascinating talks on DHX36, RLF, MACROH2A1, LDB1 and CHD3, showing how novel disease gene discovery is increasingly being linked to underlying epigenetic and transcriptomic mechanisms.

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European Society of Human Genetics @eshg.bsky.social · 15/06/2026

Let's celebrate the diversity at #eshg2026. Show us your country's hidden gem! Reply with a photo of your favourite place, food, or anything you are proud of. Look at the map below to see where participants this year are from.

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Mohamed Wafik @mo-wafik.bsky.social · 14/06/2026

🧬 Fascinating #esh2026 session on RNA splicing and rare disease genetics. From RNU2-2–related disorders to SpliceAI triaging and iPSC-derived brain models. Understanding splicing is transforming diagnosis and therapeutic discovery 🚀🔬 #RareDisease #Genomics

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Mohamed Wafik @mo-wafik.bsky.social · 14/06/2026

🧬 #eshg2026 Prof Hingroani 🇬🇧 on polygenic risk scores for screening and common disease prediction. Strong data and interesting discussion: are we expecting too much from PRS? 🤔 📊 #GenomicMedicine #PRS

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Mohamed Wafik @mo-wafik.bsky.social · 14/06/2026

🧬 #eshg2026 interesting session on ethics & equity in genomics publishing: 👥 Involving citizens in publishing genomics research ✍️ Editorial experiences of negative author behaviours 🌏 Inclusivity & indigenous populations in genomics publishing 🔒 Privacy concerns ⚕️Reproductive health equity

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Mohamed Wafik @mo-wafik.bsky.social · 14/06/2026

#eshg2026 An insightful talk about rare genetic variants in early-onset scoliosis by Tanja Frey from Zurich 🇨🇭✨ Rare disease research continues to provide answers to families with rare skeletal disorders. 🇨🇭✨ #Genetics #Genomics #scoliosis #eshg2026

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European Society of Human Genetics @eshg.bsky.social · 14/06/2026

Welcome to the second day of the #eshg2026 #hybridconference! Sessions start at 8:30 CEST. A full day of interesting symposia, educational sessions, interactive workshops and varied presentations from submitted abstracts is ahead of you!

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Mohamed Wafik @mo-wafik.bsky.social · 14/06/2026

Day 2 at #eshg2026 “Let’s Debate: Genomic Newborn Screening” 🧬👶 Really enjoyed hearing the different views on this evolving topic. A fantastic panel discussion with thoughtful arguments on both sides. #GenomicMedicine #NewbornScreening #eshg2026

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European Society of Human Genetics @eshg.bsky.social · 13/06/2026

Attend the Leena Peltonen Award lecture now at #eshg2026 with Nicola Whiffin from Oxford University and learn About her recent discovieries in rare diseases and the broader inclusion of non-coding variants in clinical genetic testing that led to the Leena Peltonen Award. Congratulations!

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European Society of Human Genetics @eshg.bsky.social · 13/06/2026

🏆 Win 2 networking event tickets for #eshg2027 in Rotterdam! Enter the #eshg2026 Photo Competition: 📸 Best Selfie 😂 Funniest Picture 💻 Best Online Setup Post on LinkedIn or Instagram with #eshg2026 before the conference ends. Finalists will be voted on by the ESHG community!

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James Fasham @jamesfasham.bsky.social · 13/06/2026

they'll have to split the prize... #ESHG2026

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Aleena M Stolworthy @aleenamolbio.bsky.social · 13/06/2026

Women's forum taking place in G2 #eshg2026 Create a safe and active space for conversation Open and welcome to everyone

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European Society of Human Genetics @eshg.bsky.social · 02/06/2025

🧠 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

nature.com

Reproductive and cognitive phenotypes in carriers of recessive pathogenic variants - Nature Human Behaviour

Fridman, Khazeeva et al. show associations of reproductive phenotypes and educational attainment in heterozygotic carriers of pathogenic variants associated with recessive conditions.

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European Society of Human Genetics @eshg.bsky.social · 27/05/2025

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

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European Society of Human Genetics @eshg.bsky.social · 27/05/2025

#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)

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European Society of Human Genetics @eshg.bsky.social · 27/05/2025

#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"

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European Society of Human Genetics @eshg.bsky.social · 27/05/2025

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"

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European Society of Human Genetics @eshg.bsky.social · 27/05/2025

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

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European Society of Human Genetics @eshg.bsky.social · 27/05/2025

DNA Day 2025 - Essay Contest 1st Place: Snigdha Rai (IN) 2nd Place: Mei Bejdo (AL) 3rd Place: Basak Memiguven (TR) ESHG DNA Day 2025 - Video Contest 1st Place: Tanush Gupta (UK) 1st Place: Dakyung Yoon (KR) 3rd Place: Jaime Chan (UK) #ESHG2025

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European Society of Human Genetics @eshg.bsky.social · 27/05/2025

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. #ESHG2025 ELPAG Award laureate: Sylvia Metcalfe (Melbourne, Australia)

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European Society of Human Genetics @eshg.bsky.social · 27/05/2025

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

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European Society of Human Genetics @eshg.bsky.social · 27/05/2025

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"

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European Society of Human Genetics @eshg.bsky.social · 27/05/2025

#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"

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European Society of Human Genetics @eshg.bsky.social · 27/05/2025

#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"

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European Society of Human Genetics @eshg.bsky.social · 27/05/2025

#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"

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European Society of Human Genetics @eshg.bsky.social · 27/05/2025

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

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European Society of Human Genetics @eshg.bsky.social · 27/05/2025

#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)"

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Pilar Cacheiro @pilarcacheiro.bsky.social · 26/05/2025

Hilary Martin on recessive diagnoses in DD. Exome-wide burden test of biallelic genotypes. Yield of new recessive genes is low with this study design. #ESHG2025

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Agnes Caruso @agnescaruso.bsky.social · 27/05/2025

Don't forget the presentations will still be available to view. #eshg2025

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James Fasham @jamesfasham.bsky.social · 27/05/2025

Chofit Chai #ESHG2025 Loss of CELSR1 and impaired Wnt/planar cell polarity signaling cause yellow nail syndrome

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Pilar Cacheiro @pilarcacheiro.bsky.social · 27/05/2025

Georgios Kalantzis. Second time this morning that highlights the need to expand beyond additive effects in GWAS. @ESHG2025

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James Fasham @jamesfasham.bsky.social · 27/05/2025

Eike Bolmer #ESHG2025 🩻 Bone2Gene-Screen: AI-Augmented Early Detection of Rare Bone Diseases ✋Using hand x-ray 🔴 Occlusion testing allows important region within the image to be defined (see below)

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Agnes Caruso @agnescaruso.bsky.social · 27/05/2025

This part (in purple) was relatively easy, but it is the other less recognizable syndromes is the part needing matchmaking to figure out the underlying causes of diseases. #eshg2025

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Pilar Cacheiro @pilarcacheiro.bsky.social · 27/05/2025

James Ware shows optimism about the clinical use and potential for therapeutic target discovery of genetic modifiers. #ESHG2025

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Agnes Caruso @agnescaruso.bsky.social · 27/05/2025

Solvathons are a large team efforts to solve rare disease cases. #eshg2025

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Pilar Cacheiro @pilarcacheiro.bsky.social · 27/05/2025

James Ware. The majority of cardiomyopathy cases do not have an identified monogenic cause. #ESHG2025

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James Fasham @jamesfasham.bsky.social · 27/05/2025

Kym Boycott #ESHG2025 What is matchmaking One? Two? Zero? sided Why do we do it (see the photo below ☺️) 👍👍@deciphergenomics.bsky.social second largest contributor to MatchMaker Exchange ❓sadly, 94% of genematcher entries have no phenotype DECIPHER is much better

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Mohamed Wafik @mo-wafik.bsky.social · 26/05/2025

#ESHG2025 day 3 Prof Zornitza Stark presenting interesting data using Talos, an open source automated tool, in large scale genomic data reanalysis: • 86% of known in scope diagnoses • >250 new diagnoses from a cohort of 4,735 undiagnosed cases • ~ 30% from new gene-disease relationships

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Agnes Caruso @agnescaruso.bsky.social · 26/05/2025

Common list of genes for newborn screening? #eshg2025 are we going to agree?

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Pilar Cacheiro @pilarcacheiro.bsky.social · 25/05/2025

Kathryn McGurk: Penetrance of secondary findings in inherited cardiomyopathies. - Bluesky exchange on the slides - Pathogenicity vs penetrance - Estimates of prevalence are uncertain - Men have increased penetrance -Cut-off for high/medium/low penetrance? #ESHG2025

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Agnes Caruso @agnescaruso.bsky.social · 26/05/2025

Phasing helps to resolve rare variants. It is not perfect but helps. There is still need for clear family history. #eshg2025

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James Fasham @jamesfasham.bsky.social · 26/05/2025

Next up in #gNBS at #ESHG2025 Wendy Chung (Guardian study) Variant-Phenotype(-Penetrance) need to be considered. Gene-Disease too simplistic SCN1A challenging, often inherited Recessive disease is tricky (in trans?) gnomAD concurrence is helpful

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James Fasham @jamesfasham.bsky.social · 26/05/2025

Sébastien Küry #ESHG2025 Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

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Agnes Caruso @agnescaruso.bsky.social · 26/05/2025

Ethical issues in newborn screenning presented by Amanda Pichini @genomicsengland.bsky.social #eshg2025

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James Fasham @jamesfasham.bsky.social · 25/05/2025

Mathieu Quinodoz #ESHG2025 De novo & inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa 1.4% unsolved #RetinitisPigmentosa cases solved with variants in #RNU4-2 #RNU6-1 #RNU6-2 #RNU6-9 #MorbidGene www.medrxiv.org/content/10.1... Age of onset typically 15-30y

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Mohamed Wafik @mo-wafik.bsky.social · 26/05/2025

#ESHG2025 Sequencing square @jamesfasham.bsky.social @aleenamolbio.bsky.social (virtually) running a workshop on the use of Social Media in Science; asking the question: "Has social media broken scientific knowledge sharing?" Join to find out more! #Socialmedia #Science #Genomics

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Agnes Caruso @agnescaruso.bsky.social · 26/05/2025

Achieving balance in newborn screening to do more good than harm is very important but not a simple task. #eshg2025

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