📄 New publication from Orphanet in JMIR Medical Informatics: “The Orphanet Nomenclature and Classification of Rare Diseases for Improved Patient Recognition and Data Interoperability: Qualitative and Quantitative Analysis” 🔗 medinform.jmir.org/2026/1/e84553

📢 UK primary care electronic health record databases are markedly underutilised for rare genetic diseases. 🧬 Their demonstrated capacity, scale, scope, and population representativeness support wider use #RareDisease @tomwrightuom.bsky.social 🔗 Read more: www.nature.com/articles/s41...

Systematic mapping of rare genetic disease studies using UK primary care electronic health records - European Journal of Human Genetics

European Journal of Human Genetics - Systematic mapping of rare genetic disease studies using UK primary care electronic health records

nature.com

🧬New guidance from the Association for Clinical Genomic Science (ACGS) on the analysis of structural variants from WGS data acrobat.adobe.com/id/urn:aaid:... 🎥Training videos: 
eqa.genqa.org/p/eqa/home 📘ACGS 2024 UK Practice Guidelines: 
www.genomicseducation.hee.nhs.uk/wp-content/u...

New in Frontiers of Public Health: A framework for referring infants with positive genetic newborn screening results to the appropriate European Reference Network, supporting timely and equitable rare disease care across Europe. 🧬 🔗 www.frontiersin.org/journals/pub...

📢 The July issue of the European Journal of Human Genetics is online! 🧬 From novel gene discovery and #RareDiseases to #GeneticCounselling, this issue brings together the latest advances in #HumanGenetics 🔗 Explore the latest issue of #EJHG ⬇️ www.nature.com/ejhg/volumes...

📊New study introduces Talos, an open-source tool for automated, iterative reanalysis of genomic data. When applied to an undiagnosed cohort, Talos added 5.1% diagnostic yield, showing the potential of systematic reanalysis in rare disease diagnostics. buff.ly/kUqOIBs

🧬Happy Rare Chromo Day! Today we celebrate every family affected by a rare chromosome and gene disorder around the world, share stories, raise awareness and try to reach more families looking for support and information. https://rarechromo.org/rare-chromo-day-2026/

🧬👇Fantastic initiative Congratulations @zornitza.bsky.social and colleagues 👏 #RareDisease

Zornitza Stark@zornitza.bsky.social · last mo.

📣 Out now @naturemedicine.bsky.social 🧬🤖 👉 rdcu.be/fqasl Our automated reanalysis tool Talos enables broad adoption and delivers timely + equitable #raredisease #diagnosis at scale! ♻️ Runs monthly on >10K datasets 🎯High specificity 💰Low running costs 🤗Open source @dgmacarthur.bsky.social

📣 Out now @naturemedicine.bsky.social 🧬🤖 👉 rdcu.be/fqasl Our automated reanalysis tool Talos enables broad adoption and delivers timely + equitable #raredisease #diagnosis at scale! ♻️ Runs monthly on >10K datasets 🎯High specificity 💰Low running costs 🤗Open source @dgmacarthur.bsky.social

A study of 173,303 exomes and genomes from the Pakistan Genome Resource highlights the value of sequencing diverse populations. Homozygous LoF variants were found in 1/3 of protein-coding genes, while nearly half of all identified variants were absent from existing databases. buff.ly/Ko8sgJ0

🧬 📄 Transcript selection profoundly influences clinical variant interpretation 👉 UCSC multi-region visualisation can support transcript-aware analysis across diagnostics, research and education 👏 @carolinefwright.bsky.social and colleagues #RareDisease

Caroline Wright@carolinefwright.bsky.social · 2mo ago

What's the difference between MANE Select and MANE Plus Clinical transcripts? We systematically compare all 65 genes with both using @genomebrowser.bsky.social and @ensembl.org, highlighting implications for genomic diagnostics. www.researchsquare.com/article/rs-9...

🗳️ It's time to vote! The #eshg2026 Photo Competition finalists have been selected. While there were no entries for Best Virtual Setup, we have some great contenders for: 📸 Best Selfie 😂 Funniest Picture 👉 Vote here: forms.gle/WVNYz4rXChGr... ⏰ Voting closes Monday, 22 June

We were delighted to share this wonderful collaboration with the Julia Garnham Centre (JGC), Sheffield Children's NHS Foundation Trust and The University of Sheffield, aimed at increasing the number of Unique guides. Find them on our Disorder Guides page: rarechromo.org/disorder-gui...

James Fasham@jamesfasham.bsky.social · 2mo ago

🖼️ P25.064.D They're here! New approach to creating high-quality patient information at scale. Sheffield & Unique working with students, clinicians, families & AI Develop expert-reviewed guides for rare genetic conditions. #ESHG2026 📖 rarechromo.org/disorder-gui...

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

🧬 Missense ≠ not splice. Mwenda Rintari (Exeter) show that ~2–3% of missense variants may disrupt splicing Analysis of 8.3M variants found protein effects approaching loss-of-function variants & several candidate diagnoses in unsolved patients. #ESHG2026

It is really interesting to chart the increase in sophistication and depth in the rare disease community as we bring forward the "genotype early" or even "genotype first" diagnosis pathways, where as "genotype late" was the more common approach >>>

Caroline Wright@carolinefwright.bsky.social · 2mo ago

#eshg2026 it’s a wrap! We hope you enjoyed this year’s #eshg #hybridconference. Thank you for being part of it! We look forward to seeing you all at #eshg2027 in Rotterdam!

🧬 Leigh Jackson (Exeter) presents multiple papers (see EJHG Special Issue ☝️ ) #ESHG2026 Penetrance of TSC, PCD, OI & RB1 across ~900,000 individuals Careful variant & phenotype curation matters In clinically unselected populations, disease risk can be ⬇️ than traditional estimates. #Genomics

F Casale: AI for health data and genomics. A cross-scale view of human genetics: from imaging to rare variant tests to patient representations. Mendelian genes are at the heart of it. #eshg2026

Welcome to the last day of #eshg2026! Tune in on one of our symposia or educational sessions starting now.

🚨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/...

📢 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

#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

Mohamed Wafik@mo-wafik.bsky.social · 2mo ago

📢 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

🌟 Trainees & Recruiters! 🌟 Don't miss the #ESHG2026 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 600 in Hall B at 12:15 hrs CEST. Let's connect and advance our careers in #genetics together!

👇On Now 🧬 I09 Pharmacogenomics and Population Health: From Biobank to Bedside 
📍Sequencing Square #eshg2026

James Fasham@jamesfasham.bsky.social · 2mo ago

Standing room only! 🪑 John McDermott introducing pharmacogenomics and population health at Sequencing Square 💊 Katie Snape now speaking on the UK genomic ecosystem and the Adults programme 👵 #eshg2026

Prof Pat #eshg2026 unofficial social media #Postman recommendation: 🍪🇸🇪 Choklad Drömmar and a cuppa ☕️🏴󠁧󠁢󠁥󠁮󠁧󠁿 English breakfast tea #dessertsofeshg #drinksofeshg

Tom Wright@tomwrightuom.bsky.social · 2mo ago

🍪🇸🇪 Choklad Drömmar #dessertsofeshg Swedish Dream Cookie #eshg2026

🍪🇸🇪 Choklad Drömmar #dessertsofeshg Swedish Dream Cookie #eshg2026

James Fasham@jamesfasham.bsky.social · 2mo ago

🤩 return of the #DessertsOfESHG hashtag @yhtacgnol.bsky.social @agnescaruso.bsky.social

🤩 return of the #DessertsOfESHG hashtag @yhtacgnol.bsky.social @agnescaruso.bsky.social

R-Synapse@ruhrsynapse.bsky.social · 2mo ago

#dessertsofeshg #eshg2026 #genetics #endoftheday

Caroline Wright (Exeter) sharing fundamental knowledge What does the "average" human genome look like?" >900k 🧬 #UKB / #AllofUs / Genome: 1️⃣ ~4.4–5.5 million variants 2️⃣ 2–3 ClinVar P/LP (mostly AR) 3️⃣ ~62–70 de novo variants 4️⃣ ~1 in 5 people in top 1% of PRS for ≥1 disease

Fantastic #eshg2026 talk “Location Location Location” Thought we may hear from Kirstie Allsopp and Phil Spencer, but great to be educated on all things #protein 👏 @emmalundberg.bsky.social, Stanford University MuSIC pmc.ncbi.nlm.nih.gov/articles/PMC... ProtiCelli www.biorxiv.org/content/10.6...