Juliana Miranda Cerqueira
@julianamiranda.bsky.social
Doctoral researcher @CeliRes_TAU | @TampereUniMet | Former member & Consultant @eshgyoung.bsky.social
What can rare disease teach us about the noncoding genome? A new Review explores disease-causing variants in promoters, enhancers and silencers, their mechanisms of action, and the challenges of interpreting regulatory variation in human disease. 🔗https://www.nature.com/articles/s41588-026-02743-3
New recommendations on returning secondary genomic findings to research participants, including polygenic risk scores and pharmacogenomics. The focus is also on equity, community engagement and the practicalities of returning results at scale 🧬. www.nature.com/articles/s41...
⏳ Last chance to register for #ESHG2026 online! Registration closes Sept 30. 💻 On-demand sessions will be available until Nov 30, 2026. 👉 2026.eshg.org/registration/
#eshg2026 brought together 6,000+ participants with more than 352 talks and 2,600+ posters. 📷 Photos from ESHG 2026: flic.kr/s/aHBqjCWyvG Save the date for #eshg2027 in Rotterdam! 📅 June 12–15, 2027 Book your hotel & benefit from special rates: 2027.eshg.org/myconference... #Genetics #Genomics
📢 Applications are now open for the #ESHG Mentorship & Observership Programmes! 🎉 Gain international experience with funding up to €2,000. Apply now! 🔗 www.eshg.org/education/es... 🔗 www.eshg.org/education/es... 📅 Application deadline: November 30, 2026 #ESHG #Genomics #Genetics
🧬 Join the ESHG Course on Translational Epigenetics in Precision Medicine! 📅 31 October–3 November 2026 📍 Telavi, Georgia 💡 Limited ESHG fellowships available More information and registration: geneticsgeorgia.org/language/en/... #Epigenetics #PrecisionMedicine #Genomics #ESHG #Genetics
🧬 Call for Abstracts – ICHG 2027 Submit your work for the 15th International Congress of Human Genetics. 📅 1–5 March 2027 📍 Guadalajara, Mexico ⏰ Submission Deadline: 17 September 2026 👉 Submit your abstract: ic.relagh.org/evento/1/res... #ICHG2027 #IFHGS #HumanGenetics #Genetics #Genomes #ESHG
🧬 3rd ESHG Training Course on Pharmacogenomics 📅 11–13 November 2026 📍 Manchester, UK 🎓 CPD accredited from the Royal College of Physicians 👉 Register now: www.mrcc.org.uk/events/eshg-... #ESHG #Pharmacogenomics #Pharmacogenetics #Genetics #Genomes
📢 Registration is open! Covering The Gaps – The Course You Didn’t Know You Needed 🗓️ 26–27 Nov 2026 💻 Online 💶 €149 🎓 CME credits applied for We look at ethics, quality, regulation, data sharing, return of results, research integrity & more 🔗 www.eshg.org/covering-the...
Check out some fun photos from #eshg2026 and help us select the winner
European Society of Human Genetics@eshg.bsky.social · 4mo 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
Well deserved! 👏👏👏 #eshg2026
European Society of Human Genetics@eshg.bsky.social · 4mo ago#eshg2026 Lodewijk Sandkuijl Award: Best presentation in the field of complex disease and statistical genetics. Théo Schneider (Helsinki, Finland) Accurate maternal and paternal haplotype inference reveals new parent-of-origin effects in the Finnish population Presentation Number: C36.2
#eshg2026 Poster Prize Honorary Mentions: Lisa Pavinato (Bellinzona, Switzerland) Robin Wijngaard (Nijmegen, Netherlands) Tuomo Kiiskinen (Stanford, United States) Brianna Louise Kline (Parkville, Australia) Agathe Bugnon (Nantes, France) Look at these posters on the Virtual Conference Platform 💻️
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. #eshg2026 ELPAG Award laureate: Anne Cambon-Thomsen (Toulouse, France)
🚨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/...
DNA in public health screening programmes
The rapid technological progress makes it possible to use DNA testing in settings outside of clinical genetics services. This implies that public health ...
nature.com
Matchmaking event @eshgyoung.bsky.social running out of chairs! 🫣🤩🧬 #eshg2026 @eshg.bsky.social
I hope today's daily highlights help, given how rich the scientific content is — tough to choose! 🫣 📢 Trainees, you're welcome to join the @eshgyoung.bsky.social matchmaking event today! 🙌Thanks @eshg.bsky.social for having everything available on demand so we don't miss a thing!🧬 #eshg2026
European Society of Human Genetics@eshg.bsky.social · 4mo agoMake sure to watch the Sunday Daily Highlights by SPC and ESHG-Y Committee Member Juliana Miranda Cerqueira and join us again tomorrow, at 8:30 CEST youtu.be/rDNkJOsWp0M
Fantastic ongoing debates on Genomic newborn screening both in the room and on BlueSky 👇
James Fasham@jamesfasham.bsky.social · 4mo agoSession 1, Day 2: Joris Veltman opens the debate on Genomic Newborn screening 👶 👩⚕️👍The audience are mostly clinical geneticists and mostly, cautiously, in favour. 🗝️Key concern regarding disease pentrance #eshg2026 🧵1/n
Session 1, Day 2: Joris Veltman opens the debate on Genomic Newborn screening 👶 👩⚕️👍The audience are mostly clinical geneticists and mostly, cautiously, in favour. 🗝️Key concern regarding disease pentrance #eshg2026 🧵1/n
@nickywhiffin.bsky.social, the 2026 recipient of the Leena Peltonen Award will be joining us live at the ESHG-Young Matchmaking event today! ✨ Whether you're looking for inspiration, career insights, or potential collaborations, this is the place to be! 🤝💡
Women's forum taking place in G2 #eshg2026 Create a safe and active space for conversation Open and welcome to everyone
✨ 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
👋🧬 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!
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
📢 @eshgyoung.bsky.social Get2Gether starting now 12:15 at G2 room! Young community - Come to join us and spark the discusion - Uniting Young Initiatives in human genetics!🧬 #eshg2026
Thanks to @agnescaruso.bsky.social staying up late in 🇦🇺 representing remote attendees to the Social media Committee 👏
Agnes Caruso@agnescaruso.bsky.social · 4mo agoTo all those attending remotely, have you managed to log on with no problems, and what sessions are you in right now? #eshg2026
