🧬Pathogenic variants in snRNA genes seem to be a more frequent cause of Mendelian disorders than previously thought, with major relevance for #NDDs and retinal disease. This Review summarizes recent advances and future perspectives in the field: 📄 www.nature.com/articles/s41...

What an amazing experience!

We teamed up with @diplomics.bsky.social‬ to deliver Ensembl South African Workshop Series 🇿🇦 We were at Pretoria, Limpopo, Durban and Cape Town! Always inspiring to see how researchers are applying Ensembl in powerful ways #genomics #Bioinformatics #OpenAccess

Saying goodbye to Johannesburg for now and on towards Limpopo for more exciting @ensembl.bsky.social workshops 💻✈️ #bioinformatics #travel

Feedback from DNA extraction PE activity in Colombia 🇨🇴: we asked high school students to write down their feelings and someone has put down “frustacion and decepcion” Welcome to the world of lab-based research my friend where honesty (and failed experiments) starts young. 😂🧪🍓 #SciComm #Genetics

Thanks for reporting about the parallel sessions and highlights, @nickywhiffin.bsky.social @jamesfasham.bsky.social @pilarcacheiro.bsky.social @zornitza.bsky.social @agnescaruso.bsky.social and all #eshg2025 I got incredible feedback and will work hard to implement it by next year.

Edu Calpena #ESHG2025 @educalpena.bsky.social Ectopic SIX3 expression underlies the craniofacial syndrome caused by deletions at the SIX2 locus "Ectopic expression of SIX3 in the SIX2 territory" 2p21 deletions with TAD disruption shown below

Congratulations Jingzhan ☺️

Huge bonus of a hybrid conference - even if you have to fly home, you can log on to listen to two amazing and inspiring award lectures! Including from my absolutely incredible mentor, collaborator, and friend @dgmacarthur.bsky.social 🤩👏 Importantly, accompanied by a proper cup of tea 😊 #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"

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 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 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 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)"

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

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

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)

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

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 2025!

ESHG Observership scheme awardees 2025 • Purvi Majethia India to Manchester, UK • Luiza Lorena Pires Ramos Belgium to Stockholm, Sweden • Juliana Miranda Cerqueira Finland to Cambridge, UK • Vanessa Sousa Portugal to Leuven, Belgium • Sílvia Pires Portugal to Jena, Germany #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

Aisha Hanaya Alsuwadi on the UAE Genome Program. Love this slide. From population genetics to personalised medicine. #ESHG2025

Hye In Kim. " Human knockouts" in the Genes and Health cohort. #ESHG2025

Mathilde DOYARD #ESHG2025 Starting with information that TBXAS1 disorders ⬆️ bone density 💊Could it be a target to treat bone fragility disorders such as OI? thromboxane synthase (TXAS) inhibitors in 🐭 studies ⬆️ bone formation ⬆️ biomechanical profiles Patients next?

Here is the panel. @jamesfasham.bsky.social, @zornitza.bsky.social, @ritabmatos.bsky.social, @psychgenomics.bsky.social, @aleenamolbio.bsky.social. I am missing a few handles, please add them.

Preparation is important for social media campaign and the landscape is changing so talking to social media specialists may be very helpful #eshg2025

@stevesphd.bsky.social is speaking on MR now at #eshg2025. “People run MR analyses without understanding the science — treating it like a psychic power,” warns the guru. A timely reminder: method ≠ magic. #MR #Genetics

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

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

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

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

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

Don’t forget to upload your slides to the system! You’ll get a QR code instantly, and the whole process is super seamless, done in under 5 minutes. Bonus: you get to enjoy the view while you wait. #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

Jon Mudge from @ensembl.bsky.social talking about gene functions annotation and the @gencodegenes.bsky.social project. For more @ensembl.bsky.social info, we are presenting on 26 May W17 Space 3 (14:15).

Happening now: Dalia Kasperaviciute from @genomicsengland.bsky.social at #eshg2025 on key lessons from early recruitment, the challenges of ensuring diverse representation, and the ethical considerations surrounding the storage of genomic data. #genomics

Now on #ESHG2025 Gold Plenary stage Fulya Taylan on ChiCap study to advance collaboration and research on childhood cancer predispositions to benefit patients and families. #genetics @ki.se

Thomas Naert on Pythia editing (an AI design tool) how it will facilitate genomic integration and editing for experimental and therapeutic purposes. #eshg2025 #bioinformatics #genetics

Assorted delights centered around the genetics/genomics community for people who have made the switch from X #ESHG2025

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

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

Can we make a hashtag for #SciandGelato #ESHG2025? Gelato on me if you have a count for the number of times @ahoischen.bsky.social mentioned gelato in his talk.

3415 abstracts received at #ESHG2025! @ahoischen.bsky.social talks #diversity and #inclusion at the meeting this year, the society's initiatives to allow everyone on the planet to join in person and online. On Demand videos also available after the conference.

Bill Newman welcomes #ESHG2025 with a powerful message: advancing genomics research hand-in-hand with the public while calling for international collaboration in the days ahead! #Genomics #GlobalHealth

Live Now at C07: Allison Newman presents on CEPT1 variants disrupting Kennedy pathway phospholipid biosynthesis revealing links to complex neurological disorders. Key insight: CEPT1 related disorders align with PE branch disorders. #Neurogenetics #eshg2025