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Zornitza Stark @zornitza.bsky.social · 16/06/2026

#eshg2026 Inspiration to follow up with the online recorded talks below:

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Brilliant ESHG Award Lecture by @tuuliel.bsky.social @eshg.bsky.social #eshg2026 highlighting the importance of building communal resources #genomics #openscience 👏👏👏

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Pilar Cacheiro @pilarcacheiro.bsky.social · 15/06/2026

#eshg2026 Time for the 2026 Award lectures! 🏅 • ELPAG Award Anne Cambon-Thomsen • ESHG Awardee Tuuli Lappalainen • Mendel Lecture by Guillaume Canaud

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L Snijders Blok. A pathogenic CCG repeat expansions in CHD3 causes Snijders Blok-Campeau syndrome via epigenetic silencing. Fantastic work and presentation. The work suggests a potentially unrecognised cause of NDD. Excited about the potential of lrGS. #eshg2026

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#eshg2026 Day 4: Johnny Bou, Paris on organoid data on MED12/MED13L neurodevelopmental effects • NPC transcriptome: opposite effects of different SNV and hypomorphic variants • microelectrode array (MEA) of differentiated iPSC confirms pathogenic alterations • more MED... genes disease relevant

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#eshg2026 Day 4: Reza Ataei, London ON stressing relevance of circRNA in health and disease • critical role in "sponging"/absorbing miRNA • stabilization and guidance of protein • indirect evidence for ALS relevance More steps for research->clinic Chairs: Natalie Tan, @christeldepienne.bsky.social

#eshg2026 Day 4: Ilaria Parenti, @unidue.bsky.social Variants in DNA binding proteins, or cohesinopathies with specific episignatures: MAU2 and interaction with CdL gene NIPL. #genetics #epigenetics #raredisease

#eshg2026 Day 4: Andrew Stergachis, Seattle presenting single-cell epigenetic data of highly dynamic cell states. • Epigenomics overcomes sparse data restraints • Solves Mendelian disorder cases #genetics #epigenetics

#eshg2026 E. Dixon and I were wondering: how many science + runner folks are currently in Gothenburg to organize a spontaneous run? 👟 🏅 Everyone welcome, open to all paces

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

#eshg2026 Day 3: Variants we almost missed. Great interactive session with difficult to assess cases. CNV, variants frequent in population and yet (recessive) disease causative. Including longread data from @radboudumc.bsky.social #genetics #diagnostics

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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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#eshg2026 Day 3: Science communicators @jamesfasham.bsky.social, @aleenamolbio.bsky.social, @tomwrightuom.bsky.social share current knowledge and own behind-the-scenes tour of #scicom in #genetics

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#eshg2026 Lightning sessions: Bioinformatics & more in full progress with cancer Single-Cell data, kidney gene association studies and pangenome haplotype diversity in CYP genes. #genetics #bioinformatics

#eshg2026 Day 3: Use it or lose it: example of body symmetry in reproductive organs. Pseudogene prevalence across evolution, here avian and reptiles reflects biological changes, including novel factors CIROP+CIROZ.

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#eshg2026 @claucarvalho.bsky.social presenting new discoveries of large inversions in the genome in neurodevelopmental disorders, e.g. Coffin-Siris Syndrome complex rearrangement of ARID1B region #genetics #neuroscience

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#eshg2026 Long-read session: Adam Phillippy, @johnshopkins Univ reporting on clinical effects of large DNA events, focusing on acrocentric regions that aren't resolved in e.g. Hg38 ref genome. #genetics

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James Fasham @jamesfasham.bsky.social · 14/06/2026

#eshg2026 Day 3: Anna Lindstrand and Alexandre Reymond kicking off the long-read session.

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🧬 Precomputed SpliceAI may need updating Reubena Dawes (Oxford) Updating transcript models and extending splice prediction distance (500bp) rescued 30 additional candidate splice variants in 7,221 NDD cases from the 100kGP, ⬆️ diagnostic splice findings by 11.7%. #ESHG2026

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#eshg2026 Day2: Elsa Leitao, Essen presenting #ReNUSyndrome non-coding variants data, focusing on RNU2-2. • gradient model, bridging categories of autosomal-dominant and -recessive disease • patient phenotyping of neurodev. disorder, #epilepsy Chairs: @christiangilissen.bsky.social, Rebeka Luknarova

Pilar Cacheiro @pilarcacheiro.bsky.social · 14/06/2026

#eshg2026 Day 2: Pilong Li, Beijing. TCF4 neurodevelopmental disorder: Liquid phase transition as measured by nuclear imaging and brain organoid development correlates with patient severity. SNV appear to be more severe, however on a spectrum for SV and SNV. #genetics #neurogenetics

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S Domcke. Barcoded monoclonal embryoid bodies allow quantification of the consequences of TF perturbations and inter-individual heterogeneity. #eshg2026

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Agnes Caruso @agnescaruso.bsky.social · 14/06/2026

Preview of the gnomAD-LR browser. Phased haplotypes and methylation will be available. The browser is coming this summer. #eshg2026

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#eshg2026 Day 2: Denis Hnisz, Berlin: genomic architecture of intrinsically disordered regions (IDR). HOXD13 repeat expansions, HMGB1 fs causing complex malformations in patients. Nuclei are mispartitioned at cellular level in several other gene's frame shift effects.

#eshg2026 Amandine Santini, Rouen: progress of the Epi2Diag project · comparison of methods · sensitivity vs. specificity Analysis of 29 genes in focus, follow her work for updates on RNU4-2, 2-2 with @nickywhiffin.bsky.social @christeldepienne.bsky.social and work on CHD3, +CdL genes #genetics

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#eshg2026 Day 2: Stephan Zürchner, Miami Miller Sch. of Medicine presenting detection of novel disease-associated #repeatexpansions. · population data: All of us 400k genomes · healthy group w/ expansions in FGF14, protective mechanism · pathogenic repeats through linkage analysis, founder effects

#eshg2026 The NMD variant that isn't. Juliet Hampstead from @radboudumc.bsky.social on Protein-truncating Variants (PTVs) that are 'reecued' by read-through. Follow their work for systemic analysis of genes that can escape nonsense-mediated decay (NMD) #genetics #bioinformatics

ESHG-Young @eshgyoung.bsky.social · 13/06/2026

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✨ Tomorrow at lunchtime, come and join our booth for the Matchmaking Event! 🤝💙 We'll have participants from academic, clinical, and industry backgrounds. Meet new people, make connections, and have great conversations! 😊 🌍 #eshg2026 @eshg.bsky.social

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Agnes Caruso @agnescaruso.bsky.social · 13/06/2026

#eshg2026 Plenary Emma Lundberg, Sweden on protein consequences of missense variants. Screen identifies many novel ciliopathy genes/proteins. #genetics #proteomics

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Parents had input into design of the GUARDIAN study. Currently, 321 conditions from group 1 are reported and 144 from group 2 (optional). #eshg2026

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

Wendy Chung (Columbia) GUARDIAN Study approach to genomic newborn screening Focus on childhood-onset conditions - high penetrance - effective interventions - clear evidence base 👀 high uptake >92% of optional additional testing in conditions where above less clear #ESHG2026

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Zornitza Stark @zornitza.bsky.social · 13/06/2026

#eshg2026 Plenary talk by @nickywhiffin.bsky.social on non-coding RNA, the incredible journey of RNU4-2 research and the powerful role of patient organizations. Mentorship+teamwork are drivers of innovation, enabling discovery of more splice factors underlying human disease. #genetics #science

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👏👏👏 fantastic to see @nickywhiffin.bsky.social win the Leena Peltonen award at #eshg2026 @eshg.bsky.social 👏👏👏

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Agnes Caruso @agnescaruso.bsky.social · 13/06/2026

#eshg2026 Welcome session @ahoischen.bsky.social welcoming >2000 participants to Gothenburg, Sweden for the annual conference. Acknowledging the years of work by Alexandre Reymond for the society, and finally presenting this year's Bingo card. #genetics #science

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This study is now being presented at #eshg2026

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

🧬 ~ 1 in 500 people have a sex chromosome trisomy (XXY, XYY or XXX) — but most remain undiagnosed. Y. Wang (Helsinki, Broad) show many shared features in biobanks ⏫ height 🫁 asthma 🫀 vascular risk ❓ driven by PAR gene dosage #ESHG2026 #UKBiobank #AllofUs #FinnGen

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#eshg2026 Day1: Neurogenetics session Bryce Rampal from @umontreal-en.bsky.social presenting Ox/Phos deficiency caused by bi-allelic THAP12 variants resulting in epilepsy. Further data on mitochondrial effects and metabolism coming! Chair: Tjitske Kleefstra, former @radboudumc.bsky.social colleague

#eshg2026 Day1 X-Inactivation session Greg Barsh @stanforduniversity.bsky.social on the peculiar X-Linked mechanism behind tortoiseshell cat fur patterns. Session chaired by Alexandre Reymond and @christeldepienne.bsky.social

R-Synapse @ruhrsynapse.bsky.social · 12/06/2026

Highlight by @eshgyoung.bsky.social on Danish and the French Young Genetic Society Initiatives! 🇩🇰 🇫🇷

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R-Synapse @ruhrsynapse.bsky.social · 12/06/2026

📢 Follow for updates on #ESHG2026 📢 #Genetics, #Neuroscience and #Raredisease looking forward to feedback on our patients with complex structural variants.

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R-Synapse @ruhrsynapse.bsky.social · 18/05/2026

Phantastic plenary talk by @maithinkx.bsky.social star Dr. Mai-Thi Nguyen in what it takes to be a #science communicator, and the consequences of talking science in the age of #attention_economy. A solution — an "onion" layered approach: simple facts entice, informed depth enlightens

R-Synapse @ruhrsynapse.bsky.social · 08/05/2026

#DICE2026 Day 3: Following precision medicine breakthroughs, Helen Cross (UK) gives an overview of and an outlook to the age of personalized medicine in #epilepsy. Challenge: heterogeneity of syndromes - models only capture fractions of the clinical phenotypes. #genetics

R-Synapse @ruhrsynapse.bsky.social · 07/05/2026

#DICE2026 Day2: How many Epilepsy genes can you name? Data science approaches to harness ClinVar, ClinGen, ILAE entries towards global health Research in #raredisease: MONDO disease ontology (722, 196 with high confidence). -> 81% pathogenic variants recorded in top 50 genes #genetics #epilepsy

R-Synapse @ruhrsynapse.bsky.social · 07/05/2026

#DICE2026 multiple updates on GABA receptor variants in epilepsy, @rikkesmoller.bsky.social gives an update on research, the importance of distinguishing loss-/gain-of-function and on current precision medicine perspective! Stay tuned for LoF/GoF prediction tools #genetics #raredisease #epilepsy

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R-Synapse @ruhrsynapse.bsky.social · 06/05/2026

#DICE2026 Opening lecture: Ingrid Scheffer, Melbourne providing state of the art information on Developmental and Epileptic Encephalopathies (DEE). And 'RNU hope in gene discovery' #ReNUSyndrome #genetics

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R-Synapse @ruhrsynapse.bsky.social · 06/05/2026

Today the 7th Dianalund International Conference on #Epilepsy begins. Looking forward to great discussions and updates from across the world. #genetics #conference #denmark