Tom Wright

🦒 Fun fact: this is the actual giraffe sequenced! His name is Fenn and he lives at the Cincinnati Zoo. Photo credit: Lisa Hubbard. More Fenn info: cincinnatizoo.org/happy-world-...

Newborn screening is incredibly important, but expanding it is not the only way to reduce the diagnostic odyssey in rare disease. Access to rapid diagnostic testing and research are also crucial... as we discuss in a new article in Nature Medicine rdcu.be/fwqpP

🧬 Publication from ERN GENTURIS: cancer surveillance guideline for individuals with PTEN hamartoma tumour syndrome 🔗 Guideline: www.genturis.eu/l=eng/guidel... 📄 Paper in EJHG: www.nature.com/articles/s41... 🎧 Genturis Genes Podcast: www.linkedin.com/posts/ern-ge...

📄 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...

🧬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

📣 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

🗳️ 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...

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 >>>

#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

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

🌟 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

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

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

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

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

👋🧬 Welcoming address #eshg2026 @ahoischen.bsky.social @eshg.bsky.social 3,171 abstracts from 95 countries: 🇬🇧🇮🇹🇹🇷🇩🇪🇪🇸 et al 👥6,048 participants: 🙋‍♂️🙋‍♀️4,812 in person 💻 🖥️1,248 online ⛅️ Fascinating word cloud from all presentation titles 🇸🇪 It’s good to be in Gothenburg! #RareDisease #Genomics

📱 The #ESHG2026 App is now available for iOS & Android! Browse sessions, posters, abstracts & maps, build your personal schedule, vote & ask questions during sessions, and stay updated throughout the Congress. 👉 2026.eshg.org/myconference... #ESHG2026 #Genetics #Genomics #HumanGenetics

For the 30M Europeans living with a rare disease, their vision of Europe is one with better access to diagnosis, care & support, no matter where they live. Learn more about how our European Blueprint will strengthen coordinated action to achieve this. #ECRD2026 🔗 https://go.eurordis.org/Blueprint

Explore nutritional adequacy & risk in #autistic children & young people with #ARFID as we welcome leading experts to explore assessment, differential diagnosis, & formulation in this high-risk clinical group Book now to secure your place! EARLY BIRD ENDS 17 MAY https://bit.ly/3Pf4IMA

1/ #SantaScience 🎅🧵 🐥1st Bluesky Rodeo 🔄💬X cross-post A year ago today @theguardian.com featured our festive research 🔎We discovered Santa has a facial #phenotype distinct from elderly bearded men 💗Evidence #Santa is real 📰 www.theguardian.com/lifeandstyle... 
📝 pubmed.ncbi.nlm.nih.gov/36548933

Our new study defines a distinct #neurogenetic condition arising from recurrent structural variants at 16p13.3 palindrome. Individuals show progressive ataxia, cognitive decline, and a characteristic MRI pattern with caudate & cerebellar atrophy. #Genomics #RareDisease 🧵1/3

Very grateful to colleagues including @rdexeter.bsky.social, @nihrexeterbrc.bsky.social, @stefanbarakat.bsky.social, the NHS Rare & Inherited Disease Genomic Network of Excellence, and to the patients and families who made this work possible. 🙏 Paper: pubmed.ncbi.nlm.nih.gov/41349538/

another great international collaboration with our friends in UK and Australia to which we could contribute, describing a very unique disease mechanism for a novel neurodegenerative disorder #genetics #raredisease @ajhgnews.bsky.social @jamesfasham.bsky.social @rdexeter.bsky.social

📊Large-scale data sharing is indispensable for human genetics & genomics. ASHG calls for a broad data-sharing ethos and responsible stewardship that protects participants while enabling collaboration. #HumanGenetics #OpenScience www.cell.com/ajhg/fulltex...

Yesterday, our Chair and Secretary presented the latest ESHG-Young activities at the ERN-ITHACA Board Meeting 🧬 Great chance to show how we connect early-career human geneticists across Europe 🌍 and to recruit please for our next matchmaking at ESHG Gothenburg 🤝 #ERNITHACA #ESHGYoung #ESHG

What do we mean by "actionability" in genomic medicine? An important question as we think more about using genomes for screening as well as diagnosis... read our new paper @gimjournal.bsky.social, authors.elsevier.com/a/1mBYc3vlFV...

More international collaborative work: Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila #raredisease #morbidgene #genetics #diseasemodelling www.sciencedirect.com/science/arti...

Our Ensembl 2026 paper is out! Learn about 1,900+ new genomes, expanded pangenome support, new regulation interfaces, and what’s coming in our 2026 releases. doi.org/10.1093/nar/gkaf1239

I'm delighted to say we have won the Queen Elizabeth Prize for Education with our work on OpenSAFELY, inventing new methods that let researchers analyse NHS GP data while protecting everyone's privacy, and with complete transparency, in a hugely productive platform! www.ox.ac.uk/news/2025-11...

🧠🧲 BRAIN-MAGNET: A functional genomics atlas for interpretation of non-coding variants 💡 Fantastic initiative from the Barakat Lab 👀 Great to have a sneak peak at #MDC25 🧬 Predicts enhancer activity from DNA sequence 🕵️‍♂️ Prioritises functional non-coding variants 👇🧵 Check it out

Very pleased to share our latest paper published in Cell: BRAIN-MAGNET: A functional genomics atlas for interpretation of non-coding variants: Cell www.cell.com/cell/fulltex... @cellpress.bsky.social, @cp-cell.bsky.social, @ruizhideng.bsky.social #enhancer here is a thread about our findings: