🧠 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

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

#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)

#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"

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"

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

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

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)

#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 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 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 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# 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

#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)"

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

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

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

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

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)

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

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

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

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

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

#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

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

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

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

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

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

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

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

#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

Come to our SM workshop at Sequencing Square #eshgh2025! @jamesfasham.bsky.social @eshg.bsky.social @eshgyoung.bsky.social

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

Should any pathogenic variant be reported? #eshg2025 penetrance and age of onset are important for reporting.

Rob Harkness #ESHG2025 Genetic risk of acute-onset axonal neuropathy following infection RCC1 is novel AR #DiseaseGene Onset ~18m #GuillianBarre-like Clinical course #ALS-like Proteins reduced thermal stability 🪰 reduced survival to paraquat stress papers.ssrn.com/sol3/papers....

Join us for social media workshop #eshg2025

Rulan Shaath on integrating metabolics for rare disease diagnosis: - understanding disease pathophysiology - guiding genetic analysis - informing therapeutic approaches - deep phenotyping is crucial - limitations concordance genetic-metabolic data #ESHG2025

Kartik Chundru (Exeter) @Chundru.bsky.social Comprehensive characterisation of non-coding and coding effects of de novo mutations in a large-scale rare disease case-control cohort Trios from GEL, UKB & AllOfUs Highlight RNU non coding variants & splice site #ESHG2025

Join us at Sequencing Square W19 for a lively debate on Social Media’s Role in Science! 🎤 The workshop will dive into how platforms are shaping #ScienceCommunication

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

Five years or never!!! (In how many years will AI resolve cases by itself?) #ESHG2025

Time to modernise the human reference genome. Karen Miga @humanpangenome.bsky.social on how T2T assemblies open new biological discoveries. Still one genome cannot represent our genetics diversity, No matter how complete. Incredibly exciting for the global community. #ESHG2025

LLMs to extract clinical data from EHR? The audience believes that's our best option for enhancing clinical data assessment. #ESHG2025

#ESH2025 What a wonderful educational session by Dr Bart Van der Sanden (Radbound UMC) on long read sequencing: Technical interpretation of variants from LRS data with case examples including different disease mechanisms. I've learned something new today!

What types of variants are most commonly missed? #eshg2025

James Fasham is introducing DECIPHER at the Tools for clinical genome interpretation session. I'm afraid that despite his impressive multitasking skills, he is not able to present and post at the same time... #ESHG2025

Same guidelines used, two different interpretations by trained individuals 🤔. Bottom line there was an affected family member but that information was not passed on. It is critical to ask patients to get family history & include it when genetic testing is done. #eshg2025