📄 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

Check out some fun photos from #eshg2026 and help us select the winner

European Society of Human Genetics@eshg.bsky.social · 2mo ago

🗳️ 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

Make sure to join this year’s ELPAG Award Lecture by Anne Cambon-Thomsen at 13:30 CEST in Hall C followed by ESHG Awardee Tuuli Lappalainen and the Mendel Lecture by Guillaume Canaud #eshg2026

Among patients with hereditary angioedema, a single iv infusion of lonvo-z resulted in a significantly lower rate of hereditary angioedema attacks than placebo. #eshg2026 www.nejm.org/doi/full/10....

Lonvoguran Ziclumeran — In Vivo CRISPR Gene Editing in Hereditary Angioedema | NEJM

Hereditary angioedema is a rare and potentially life-threatening genetic condition characterized by recurrent and debilitating swelling attacks. Lonvoguran ziclumeran (lonvo-z) — an investigational...

nejm.org

Rebecca Ahrens-Nicklas (CHOP) 💊 First-in-human personalised base editing for CPS1 deficiency Bespoke adenine base editor delivered by liver-targeted LNPs designed, manufactured, tested & given under expanded access within months of birth. pubmed.ncbi.nlm.nih.gov/40373211 #ESHG2026

🎉 What a fantastic evening at the #eshg2026 Networking Event at World of Volvo! A special highlight was the The Telomerays band formed by geneticists, who once again rocked the stage and kept the dance floor buzzing throughout the evening! 🎸🎤 📸 Mikael Göthage/Bildbyrån

Making ‘mini-brains’ from the stem cells of patients with childhood parkinsonism have enabled researchers to find not only the mechanism of the disease, but also that a cheap, widely available form of vitamin B can slow its progression. Presented at #eshg2026 today: www.thetimes.com/uk/science/a...

Scientists create ‘mini-brains’ to help children with rare disorder

A form of vitamin B3 known as nicotinamide mononucleotide was found to slow disease progression in patients with a rare mutation in the DHDDS gene

thetimes.com

📢 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

Best thing about the UK: Our spring ( I know! But look at this video of Cambridge) @trincolllibcam.bsky.social

European Society of Human Genetics@eshg.bsky.social · 3mo ago

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.

🧬 Practical Info for tonight’s ESHG-Young Networking Event! 👇 🚋 Check the Directions in our linktree! & don't forget you ESHG badge! You will need it to get in. #eshg2026 @eshg.bsky.social

🧬 #eshg2026 interesting session on ethics & equity in genomics publishing: 👥 Involving citizens in publishing genomics research ✍️ Editorial experiences of negative author behaviours 🌏 Inclusivity & indigenous populations in genomics publishing 🔒 Privacy concerns ⚕️Reproductive health equity

Most genomics data is outside Europe, hence there is need for Europe to rectify this. #eshg2026

Matchmaking event @eshgyoung.bsky.social running out of chairs! 🫣🤩🧬 #eshg2026 @eshg.bsky.social

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

Tom Wright@tomwrightuom.bsky.social · 3mo ago

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

Welcome to the second day of the #eshg2026 #hybridconference! Sessions start at 8:30 CEST. A full day of interesting symposia, educational sessions, interactive workshops and varied presentations from submitted abstracts is ahead of you!

🏆 Win tickets for #eshg2027 in Rotterdam! The #eshg2026 Photo Competition is live! Show the community how you are experiencing the conference this year. Check the details below, start sharing, and give your favorites some love to help them get noticed! 😉

European Society of Human Genetics@eshg.bsky.social · 3mo ago

🏆 Win 2 networking event tickets for #eshg2027 in Rotterdam! Enter the #eshg2026 Photo Competition: 📸 Best Selfie 😂 Funniest Picture 💻 Best Online Setup Post on LinkedIn or Instagram with #eshg2026 before the conference ends. Finalists will be voted on by the ESHG community!

Women's forum taking place in G2 #eshg2026 Create a safe and active space for conversation Open and welcome to everyone

Looking forward to a rollercoaster selfie with the ESHG badge 😉 #eshg2026

European Society of Human Genetics@eshg.bsky.social · 3mo ago

🏆 Win 2 networking event tickets for #eshg2027 in Rotterdam! Enter the #eshg2026 Photo Competition: 📸 Best Selfie 😂 Funniest Picture 💻 Best Online Setup Post on LinkedIn or Instagram with #eshg2026 before the conference ends. Finalists will be voted on by the ESHG community!

Link to the #eshg2026 bingo mfbc.us/m/rfygncm I am almost there, do coffees from @thermofishersci.bsky.social booth count?

James Fasham@jamesfasham.bsky.social · 3mo ago

it wouldn't be ESHG without... #ESHG2026

👋🧬 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

Attend the Leena Peltonen Award lecture now at #eshg2026 with Nicola Whiffin from Oxford University and learn About her recent discovieries in rare diseases and the broader inclusion of non-coding variants in clinical genetic testing that led to the Leena Peltonen Award. Congratulations!

Fantastic welcome address from @ehrencrona.org Swedish Society of Medical Genetics and Genomics (SFMG): Gothenburg, genetics and a joke in 5 mins! #eshg2026

Excited to be presenting two interactive sessions at #eshg2026 in Gothenburg! 14 June, 14:00 CEST I07: UCSC & @ensembl.org Genome Browsers (F4/5) 15 June, 14:00 CEST I16: Social Media in Genetics (Sequencing Square) If you're at the meeting, come and say hello ☺️ #Genomics #HumanGenetics #SciComm

Join the ESHG Podcast Live Event at 12:15 CEST in room F4+5, level2! A discussion with experts about ‘Inclusivity by design: The future of genetics education, research, and clinical practice’. Join us for this special episode and check out previous episodes: www.eshg.org/geneticsounds

Can’t make every session? Registered #eshg2026 participants can still access all posters daily via the e-poster terminals and online conference platform through Nov. 30, 2026.

James Fasham@jamesfasham.bsky.social · 3mo ago

📌 Poster update for #ESHG2026 This year, posters will be physically displayed for *one day only*. 👍 Easier to find authors for face-to-face discussions. 📅 Plan ahead so you don't miss key posters for you. All posters will remain available online throughout the meeting

Welcome to the ESHG 2026 – #hybridconference! Join the conversation by using #eshg2026. With this hashtag you will also find the latest updates. See you at 8:30 CEST for the first sessions of today!

👀 Best you can't guess the WiFi code for #eshg2026... (it's eshg2026)

To all attending #eshg2026: if you are ready to spent extra attention to detail throughout the entire conference, I recommend the informal ESHG bingo card. Brought by our great postdoc @lydiasagath.bsky.social @eshg.bsky.social First bingo gets a kanelbullar from me… tinyurl.com/eshgbingo2026

ESHG 2026 BINGO

Play virtual ESHG 2026 BINGO with your friends for free on any device. Customize the bingo cards and generate printable or virtual bingo cards for free.

tinyurl.com

Ensembl 116 + Ensembl Genomes 63 are out! Explore new pig, cattle, and oat genomes, updated alignments and new VEP plugins It’s a milestone! Our last on the current platform. New data from here on is via beta.ensembl.org More info on our blog: zurl.co/MrJ2A

🧬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...

Small nuclear RNA genes in Mendelian disorders - Nature Genetics

This Review discusses the high-impact variants in 12 small nuclear RNA genes that cause Mendelian disorders with either autosomal dominant or recessive inheritance patterns, highlighting the…

nature.com