iiinova — where your digital self keeps evolving

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European Society of Human Genetics @eshg.bsky.social · 03/08/2026

📄 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

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Aleena M Stolworthy @aleenamolbio.bsky.social · 18/06/2026

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

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European Society of Human Genetics @eshg.bsky.social · 16/06/2026

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

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James Fasham @jamesfasham.bsky.social · 16/06/2026

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

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European Society of Human Genetics @eshg.bsky.social · 16/06/2026

🎉 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

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Emma Mason, Kerry Noble & Mary Rice @ricemasonnoble.bsky.social · 15/06/2026

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...

thetimes.com

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

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Mohamed Wafik @mo-wafik.bsky.social · 15/06/2026

📢 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

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Aleena M Stolworthy @aleenamolbio.bsky.social · 15/06/2026

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

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ESHG-Young @eshgyoung.bsky.social · 14/06/2026

🧬 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

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Mohamed Wafik @mo-wafik.bsky.social · 14/06/2026

🧬 #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

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

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

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Juliana Miranda Cerqueira @julianamiranda.bsky.social · 14/06/2026

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

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Tom Wright @tomwrightuom.bsky.social · 14/06/2026

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

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European Society of Human Genetics @eshg.bsky.social · 14/06/2026

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!

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

🏆 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! 😉

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Aleena M Stolworthy @aleenamolbio.bsky.social · 13/06/2026

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

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Aleena M Stolworthy @aleenamolbio.bsky.social · 13/06/2026

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

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Aleena M Stolworthy @aleenamolbio.bsky.social · 13/06/2026

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

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Tom Wright @tomwrightuom.bsky.social · 13/06/2026

👋🧬 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

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European Society of Human Genetics @eshg.bsky.social · 13/06/2026

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!

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Aleena M Stolworthy @aleenamolbio.bsky.social · 13/06/2026

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

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Aleena M Stolworthy @aleenamolbio.bsky.social · 13/06/2026

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

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European Society of Human Genetics @eshg.bsky.social · 13/06/2026

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

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Aleena M Stolworthy @aleenamolbio.bsky.social · 13/06/2026

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.

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European Society of Human Genetics @eshg.bsky.social · 13/06/2026

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!

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James Fasham @jamesfasham.bsky.social · 12/06/2026

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

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Alex Hoischen @ahoischen.bsky.social · 12/06/2026

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

tinyurl.com

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.

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Ensembl @ensembl.org · 10/06/2026

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

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European Society of Human Genetics @eshg.bsky.social · 12/12/2025

🧬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...

nature.com

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…

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Ensembl @ensembl.org · 04/09/2025

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

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Aleena M Stolworthy @aleenamolbio.bsky.social · 09/08/2025

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

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Aleena M Stolworthy @aleenamolbio.bsky.social · 01/07/2025

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

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R-Synapse @ruhrsynapse.bsky.social · 27/05/2025

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.

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James Fasham @jamesfasham.bsky.social · 27/05/2025

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

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James Fasham @jamesfasham.bsky.social · 27/05/2025

Congratulations Jingzhan ☺️

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Nicky Whiffin @nickywhiffin.bsky.social · 27/05/2025

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

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European Society of Human Genetics @eshg.bsky.social · 27/05/2025

#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)

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European Society of Human Genetics @eshg.bsky.social · 27/05/2025

#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"

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European Society of Human Genetics @eshg.bsky.social · 27/05/2025

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"

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European Society of Human Genetics @eshg.bsky.social · 27/05/2025

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

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European Society of Human Genetics @eshg.bsky.social · 27/05/2025

#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"

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European Society of Human Genetics @eshg.bsky.social · 27/05/2025

#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"

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European Society of Human Genetics @eshg.bsky.social · 27/05/2025

#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"

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European Society of Human Genetics @eshg.bsky.social · 27/05/2025

#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)"

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European Society of Human Genetics @eshg.bsky.social · 27/05/2025

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"

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European Society of Human Genetics @eshg.bsky.social · 27/05/2025

#ESHG2025 Dian Donnai and Jill Clayton-Smith Prize for Dysmorphology 2025 Winner: Emre Akbas, Eskisehir, Turkey

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European Society of Human Genetics @eshg.bsky.social · 27/05/2025

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

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European Society of Human Genetics @eshg.bsky.social · 27/05/2025

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)

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