How do YAP1 variants cause ocular coloboma? 👁️ Coloboma is a congenital eye disorder caused by a tissue fusion defect, affecting ~1 in 5000 births and leading to visual impairment.

The 7th GoOD (Genetics of Ocular Development) Meeting will take place in Montreal, Canada on 19 and 20 October 2026, ahead of the ASHG annual meeting. More information on www.goodsoc.org

🧬 Abstract submissions are now open for #ASHG26 Share your discoveries, connect with the global human genetics and genomics community, and help drive real‑world impact. Submissions are due May 18. Submit now: ashgmeeting.ashg.org/programs/abs...

Do you want to know more about how #killifish research can advance our understanding of retinal diseases? Have a look at Sofia Manzo's exciting work! Sofia is PhD fellow of the MSCA-DN @progret2024.bsky.social @cabd-upo-csic.bsky.social @jrmarmor.bsky.social #killifish #retinaldisease #aging 🧬👌🧬

ProgRET@progret2024.bsky.social · 5mo ago

New series launch: discover our PhD projects🚀Curious what ProgRET is all about? Every month, one of our doctoral candidates is explaining their project in a short video. This is Sofia Manzo's (DC1) month🐟Look at her exciting work at the Andalusian Centre for Developmental Biology in Seville, Spain.

Meet Elfride De Baere, Head of Clinic at Ghent University Hospital’s Center for Medical Genetics. She shares why PacBio long-read sequencing + a multiomic approach (genomics + transcriptomics) can help deliver clearer insights for families. #WeCareForRare #RareDiseaseMonth #GeneticEyeDisease

🚀 Thrilled to join #ISV2026 in Leuven! Genomic scientists - this is your meeting: exciting science, talks, posters, networking & an epic party in a unique venue. 🗓 Deadlines: Abstracts: Feb 9 Early Bird: Mar 9 🔗 Details & registration: lnkd.in/gsE6ibfE #ISV2026 #Genomics

👀 Missed the live webinar? Watch it now on Youtube! Episode 7 of the #ESHG webinar series with @elfridedebaere.bsky.social on "Multi-omics in inherited eye diseases: from missing heritability to new therapeutic targets". 📺 Watch here: urls.fr/8CuBfl

ESHG Webinar Series Episode 7 with Elfride de Baere

Enjoy the videos and music you love, upload original content, and share it all with friends, family, and the world on YouTube.

urls.fr

Retina Ex Vivo 2026 is just around the corner! 🧬 This FEBS course dives into organotypic retina cultures: 🔬 Day 1: Dissection, culture methods & ocular drug delivery (Keynote: Arto Urtti) 🧠 Day 2: Disease modeling (IRD, AMD, DR, glaucoma) 🧪 Day 3: Gene therapy, RNA tools & Keynote by K Palczewski

Our fellows and partners: Stefanida Shliaga (DC6), Nelson Martins (DC5) @nelsonm1224.blky.social, Susanne Roosing @susanneroosing.bsky.social, Carlo Rivolta @carlorivolta.bsky.social, Elfriede De Barre @elfridedebaere.bsky.social, Miriam Bauwens, Alison Hardcastle @hardcastlelab.bsky.social

🧬 Major breakthrough: IOB researchers identify new genetic cause of inherited blindness in overlooked RNA genes. The discovery solves decades-old diagnostic mystery and opens new pathways for many patients worldwide. ➡️ www.nature.com/articles/s41... #AcademicBlueSky #Genetics #VisionResearch #IRDs

📢 Don’t miss Covering The Gaps – The Course You Didn’t Know You Needed! Explore overlooked but crucial topics in genetics: ethics, quality, data sharing & more. 🗓️ Online | Nov 27–28, 2025 💶 €100 | 🎓 15 CME credits ⚠️ Limited spots available! 👉 Register now: www.eshg.org/covering-the...

ESHG: Covering The Gaps - The Course You Didn’t Know You Needed

Covering The Gaps

eshg.org

Want to rewatch sessions from #ESHG2025 Milan? You can access all conference content until Nov 30, 23:59 CET from any device. 👉 cattendee.abstractsonline.com/meeting/21105 📹 After Nov 30, plenary & educational sessions will be on the ESHG YouTube channel @eshg.bsky.social

AI is transforming #humangenetics & genomics research. Head to the Distinguished Speakers Symposium to explore the breakthroughs & the ethical challenges of implementing AI systems in research. Don’t miss this powerful closing session of #ASHG25!📲 https://bit.ly/474ALFu #ASHG

That’s a wrap on #ASHG25! In just 5 days, we: 🧬Showcased groundbreaking science 🤝Sparked powerful connections 🏆Celebrated excellence 📸Captured unforgettable moments Thank you for the energy, ideas, and inspiration. We look forward to seeing you in Montreal, CA for #ASHG26!

#ASHG25 may be over, but the learning continues: 🖥️ On-demand access to recorded sessions is coming soon! Learn at your pace, anytime, anywhere. Stay tuned for details! #ASHG #HumanGenetics

🚨Coming in December: Dive into our Genetic Diagnosis & Rare Disease Virtual Symposium! From detecting complex structural variants to accelerating time-to-diagnosis with integrative genomics—this event is packed with innovation. Reserve your place now: learning.ashg.org/products/202...

Exciting! 🚀🧬✨

Michael Hoffman@michaelhoffman.bsky.social · 10mo ago

Now: JangKeun Kim: Multi-omic dynamics of human spaceflight and interplanetary biology #ASHG25 🧪🧬🖥️

Our #ASHG25 platform activities: Vrathasha Vrathasha: 3D genomics & glaucoma. 206AB, W 10.45-11 Winter Bruner: MPRA & childhood obesity. 205ABC, T 11-11.15 Matt Pahl: Ancillary Session, Predicted Effector Genes. 259A, F 1.45-1.15 Struan Grant chairs Metabolic Matrix session. 253ABC, S 10-11

🎉Welcome to #ASHG25! We’re excited for five days full of sessions, networking, and inspiration. 📱Pro tip: Download our mobile app for easy access to the schedule, maps, and updates: https://pheedloop.com/ASHG25/ Let’s make this an unforgettable experience—explore, connect, and share your journey!

As the 2025 American Society of Human Genetics Annual Conference arrives in Boston, don't forget to check out this year's ASHG TV Film Series! Find out more about the latest in genomics from leading scientists and organizations. youtube.com/playlist?lis... @geneticssociety.bsky.social

“We must keep going with this ability to sample genomes, not just in the convenient places we started out with.” - former Director of the National Institutes of Health, Francis Collins, MD, PhD, during his recognition speech at #ASHG25

A great collaborative study of a novel adult-onset maculopathy that shows similarities with dry AMD with Eline Van Vooren, Filip Van den Broeck, Michael T. Redmond, Julie De Zaeytijd, Bart P. Leroy, Miriam Bauwens @elfridedebaere.bsky.social & many colleagues #RPE65 #dominant #maculopathy #AMD

@arvoiovs.bsky.social · 11mo ago

Elfride De Baere et al. from Ghent University find that a RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals. doi.org/10.1167/iovs.66.12.53

udy Savige et al. from the University of Melbourne Department of Medicine determine the population frequency of monoallelic and biallelic predicted pathogenic RPE65 variants in a normal database. doi.org/10.1167/iovs.66.11.73

ason Comander et al. from Massachusetts Eye & Ear describe higher throughput assays for understanding the pathogenicity of variants of unknown significance in the RPE65 gene. doi.org/10.1167/iovs.66.13.10

Inherited eye diseases cause early-onset vision loss, yet many cases remain unsolved due to missing heritability. On Oct 29, discover how multi-omics can boost diagnosis and reveal new therapeutic opportunities. www.eshg.org/webinarseries #MultiOmics #Ophthalmology @elfridedebaere.bsky.social

📣Online now! 📄RetiGene, a comprehensive gene atlas for inherited retinal diseases 🧑‍🤝‍🧑 @carlorivolta.bsky.social @mquinodoz.bsky.social & co

RetiGene, a comprehensive gene atlas for inherited retinal diseases

RetiGene is an expert-curated atlas of genes involved in inherited retinal diseases, integrating variant data and gene expression. This open-access, continually updated resource aims to support varian...

cell.com

📣New from Liu et al! 📄Unveiling tissue heterogeneity through genomic interaction-encoded image representation of #RNASeq data

Unveiling tissue heterogeneity through genomic interaction-encoded image representation of RNA-sequencing data

This study analyzes RNA-sequencing data by converting gene-expression profiles into images that encode gene-gene interactions. This image-based representation, processed through deep learning to extra...

cell.com

📣New from Wang et al! 📄Genetic architecture and analysis practices of circulating metabolites in the NHLBI Trans-Omics for Precision Medicine Program #TOPMed

📣New from Mekzine et al! 📄Allele-specific RNAi therapy corrects an extracellular matrix defect in Schuurs-Hoeijmakers syndrome

Allele-specific RNAi therapy corrects an extracellular matrix defect in Schuurs-Hoeijmakers syndrome

Allele-specific RNA interference silences the mutant PACS1 transcript causing Schuurs-Hoeijmakers syndrome, a rare neurodevelopmental disorder. RNA sequencing of cells from affected individuals reveal...

cell.com

📣New from @vijayganesh.bsky.social & co! 📄Transcriptome-wide outlier approach identifies individuals with minor spliceopathies

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies

RNA sequencing in rare disease is conventionally used to resolve the effect of a variant on a single gene. Here, we apply a transcriptome-wide approach to detect disorders of the minor spliceosome. Th...

cell.com