Elfride De Baere
Professor @UGent I Rare eye & developmental diseases I IRD I Retina & RPE I Non-coding variation I Multiomics I Targets for treatment
debaerelab.com progret.eu
- 🚀 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
- Discover how multi-omics approaches, integrating genomics, transcriptomics, and epigenomics, can not only solve diagnoses but also opens the door to new therapeutic opportunities. 🧬🔬 📺 Watch here: urls.fr/8CuBfl
- 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
- 🌟 Bonus: Workshops on manuscript prep, grant writing, posters & social mingling. A great opportunity for PhD students, postdocs & early-career researchers. 📎 Abstracts/registration open – check FEBS site for details and funding support! Full programme: retinaexvivo2026.febsevents.org/preliminary-...
- Reposted by Elfride De Baere[Not loaded yet]
- Reposted by Elfride De Baere🧬 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
- Reposted by Elfride De Baere[Not loaded yet]
- Reposted by Elfride De BaereWant 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
- Reposted by Elfride De Baere[Not loaded yet]
- Reposted by Elfride De Baere[Not loaded yet]
- Reposted by Elfride De Baere[Not loaded yet]
- Reposted by Elfride De Baere[Not loaded yet]
- Exciting! 🚀🧬✨
- Reposted by Elfride De BaereOur #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
- Reposted by Elfride De Baere[Not loaded yet]
- Reposted by Elfride De Baere[Not loaded yet]
- Reposted by Elfride De Baere“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
- 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
- Reposted by Elfride De Baereudy 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
- Reposted by Elfride De Baereason 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
- Reposted by Elfride De Baere[Not loaded yet]
- Reposted by Elfride De Baere📣Online now! 📄RetiGene, a comprehensive gene atlas for inherited retinal diseases 🧑🤝🧑 @carlorivolta.bsky.social @mquinodoz.bsky.social & co
- Reposted by Elfride De Baere📣New from Liu et al! 📄Unveiling tissue heterogeneity through genomic interaction-encoded image representation of #RNASeq data
- Reposted by Elfride De Baere📣New from Wang et al! 📄Genetic architecture and analysis practices of circulating metabolites in the NHLBI Trans-Omics for Precision Medicine Program #TOPMed
- Reposted by Elfride De Baere📣New from Mekzine et al! 📄Allele-specific RNAi therapy corrects an extracellular matrix defect in Schuurs-Hoeijmakers syndrome
- Reposted by Elfride De Baere📣New from @vijayganesh.bsky.social & co! 📄Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
- Reposted by Elfride De Baere[Not loaded yet]
- Reposted by Elfride De Baere[Not loaded yet]
- Reposted by Elfride De Baere[Not loaded yet]
- Reposted by Elfride De Baere[Not loaded yet]
- Reposted by Elfride De BaerePublished in EJHG Journal: 📊 DNAmethylation signatures support VUS reclassification and complement negative genetic tests. This approach boosts diagnostic yield in neurodevelopmental disorders, proving its clinical utility in routine diagnostics. ✅ www.nature.com/articles/s41...
- Reposted by Elfride De Baere[Not loaded yet]
- Reposted by Elfride De Baere[Not loaded yet]
- Reposted by Elfride De Baere[Not loaded yet]
- Reposted by Elfride De Baere[Not loaded yet]
- Thank you so much! This meeting was held on the same day as the farewell symposium of Prof. Frans Cremers @radboudumc.bsky.social, the founder of the @erdc-team.bsky.social #inheritedretinaldiseases www.erdc.info
- 🧬 How can we navigate the genetic complexity of inherited retinal diseases? Our new paper in @ajhgnews.bsky.social presents RetiGene, a curated atlas of IRD genes, built with @erdc-team.bsky.social, to support diagnosis, research and therapy. 👉 bit.ly/467U1S9 #AcademicBlueSky #IRDs #VisionResearch
- Reposted by Elfride De Baere@jrmarmor.bsky.social from #CABD was one of the keynote speakers of the Genetics of Ocular Development in Ghent in the past days!
- We’ve just wrapped up an amazing Genetics of Ocular Development (GoOD) Meeting, held on 📅 8–9 September 2025 in Ghent. It was an inspiring programme with brilliant lectures from our invited speakers ✨ Elena Semina ✨ Juan R Martínez-Morales @jrmarmor.bsky.social ✨ Alice Davidson & selected talks
- Reposted by Elfride De Baere[Not loaded yet]
- We’ve just wrapped up an amazing Genetics of Ocular Development (GoOD) Meeting, held on 📅 8–9 September 2025 in Ghent. It was an inspiring programme with brilliant lectures from our invited speakers ✨ Elena Semina ✨ Juan R Martínez-Morales @jrmarmor.bsky.social ✨ Alice Davidson & selected talks
- 👏 Huge thanks to all speakers, participants, the scientific and fantastic local organizing committee for making this such a successful GoOD Meeting! @elfridedebaere.bsky.social Nicola Ragge Nicolas Chassaing Jean-Michel Rozet Anne Slavotinek Louise Carron Burcu M Cicekdal Mattias Van Heetvelde
- We are also very grateful for the support of our sponsors @ds-ugent.bsky.social Doctoral Schools @vlaamseoverheid.bsky.social Lucid Genomics Uira Melo Tessa Remmers Jacob Hertzberg Blikka Genomics Stephan Schrooten Belgian Society of Human Genetics BeSHG GoOD & for the partnership of ERN-EYE
- 🐸👦🏻 What do a frog and a human have in common? More than you might think, especially when it comes to the eye! 👁️ In this video @elfridedebaere.bsky.social introduces the ENHANCE-MCOR project, the first research project funded by the #GENeHOPEFund: lnkd.in/eswPtYtB
- Collaboration between @elfridedebaere.bsky.social Jean-Michel ROZET Munevver Burcu Cicekdal Lucas Fares Taie @krisvleminckx.bsky.social Thomas Naert @ugent-fge.bsky.social Institut Imagine
- 👉Curious to learn more? A full article about the project is also available on the GENeHOPE website: FR: lnkd.in/em7mh4Tc NL: lnkd.in/ebCKUWxq ENGL: lnkd.in/eBXfVXeK #GENeHOPE #Genetics #Glaucoma #GeneticDiseases #noncoding #TAD #Xenopus #PrecisionMedicine
- Reposted by Elfride De BaereAn infant with an inherited life-threatening metabolic condition has responded to a tailored therapy that uses CRISPR to correct a specific mutation go.nature.com/3Jmdbuy
- Exciting news! 🎉 The Genetics of Ocular Development (GoOD) Meeting will take place in Ghent, Belgium, 8–9 September 2025 Keynote lectures from Elena Semina, Juan R. Martínez-Morales & Alice Davidson Early registration: open until 31 Aug 2025 👉 goodsoc.org/meetings/2025-meeting
- #PhD students from Flemish Universities @ugent-fge.bsky.social @ugentopenscience.bsky.social @kuleuvenuniversity.bsky.social @uantwerpen.be VUB register free of charge (mail to: good-meeting@ugent.be), thanks to sponsoring by @vlaamseoverheid.bsky.social @ds-ugent.bsky.social
- Sponsored by @vlaamseoverheid.bsky.social @ds-ugent.bsky.social Lucid Genomics Blikka Genomics The Belgian Society of Human Genetics #BeSHG
- Unique career opportunity regarding Computational Genomics in the field of Reproductive Medicine at the leading @uoe-igc.bsky.social directed by @jorisveltman.bsky.social Joris Veltman! Deadline for applications: 1st September 2025!! #ComputationalGenomics #ReproductiveMedicine #Lecturer
- Looking for a new opportunity in computational genomics? Join our group @uoe-igc.bsky.social @edinburgh-uni.bsky.social Deadline September 1! elxw.fa.em3.oraclecloud.com/hcmUI/Candid...
- Reposted by Elfride De Baere[Not loaded yet]
- Reposted by Elfride De Baere[Not loaded yet]
- 📣 Join us at the Genetics of Ocular Development (GoOD) Meeting in Ghent, Belgium, 8-9/09/25 🧬 Abstract submission until 16/07/25 goodsoc.org ✨ Exciting line-up ✨ Supported by GoOD @vlaamseoverheid.bsky.social @ds-ugent.bsky.social Lucid #eyegenetics #development #models #diagnosis #therapy
- 🧬 Exciting programme for #ESHG2026! 🧬 And this is only the beginning! 🌟🌟🌟
- Today, the Scientific Programme Committee wrapped a fantastic and exciting programme for #eshg2026 conference! More information will available on our conference website soon. We look forward to welcoming you in Gothenburg!
- Reposted by Elfride De Baere[Not loaded yet]
- Reposted by Elfride De Baere[Not loaded yet]
- Very thankful our ENHANCE-MCOR project has been generously awarded by the GENeHOPE Foundation.
- ENHANCE-MCOR is about a rare eye disorder, congenital microcoria (MCOR), causing abnormally small pupils, often progressing to severe vision problems like glaucoma.
- Unlike typical genetic diseases caused by changes in genes, MCOR results from disruptions in non-coding regions that regulate genes. ENHANCE-MCOR will create a new disease model in Xenopus tropicalis.
-
View full threadOur project will be conducted by teams from @ugent-fge.bsky.social and @uzgent.be @elfridedebaere.bsky.social Burcu Cicekdal @krisvleminckx.bsky.social Thomas Naert & Institut Imagine Jean-Michel ROZET Lucas Fares-Taie #3Dgenome #enhanceropathy #Xenopus #SOX21 #glaucoma
- Reposted by Elfride De Baere🧬🎤 Very excited for the start of the EMBO Workshop in Enhancer Mechanics and Enhanceropathies this afternoon in Middelfart! Many thanks to the organizers @smandrup.bsky.social @radaiglesiaslab.bsky.social and Minna Kaikkonen for putting together an amazing programme! #EMBOenhanceropathies
- Reposted by Elfride De BaereFor Susanne Mandrup, Professor at the University of Southern Denmark and EMBO Member, doing #research in #Denmark also means nature, balance and connectivity. 🧪 Hear more about what susanne has to say about living and working in Denmark: www.embo.org/people/denma... #LifeSciences
- Reposted by Elfride De BaereHappy to announce that the preprint about Retigene, our new gene atlas for inherited retinal diseases, is now on-line. www.biorxiv.org/content/10.1...
- Reposted by Elfride De BaereCongratulations to @mquinodoz.bsky.social @elfnzclk.bsky.social and Dhryata Kamdar at @iobswiss.bsky.social for their wonderful work
- Reposted by Elfride De BaereMany thanks to the many contributors from the ERDC @erdc-team.bsky.social! Access Retigene data here: retigene.erdc.info
- Reposted by Elfride De Baere
- 🧬 NEW DEADLINE ALERT 🧬 Extension until: June 10, 5 PM U.S. ET #ASHG25
- Reposted by Elfride De Baere[Not loaded yet]
- Reposted by Elfride De Baere[Not loaded yet]
- Reposted by Elfride De Baere📢 Follow ESHG on Bluesky! @eshg.bsky.social! We’ve prepared a starter package to help you join easily. 🔗 go.bsky.app/RsMKmCE Let’s build the ESHG community together!
- Reposted by Elfride De Baere[Not loaded yet]
- Reposted by Elfride De Baere[Not loaded yet]
- Reposted by Elfride De Baere[Not loaded yet]
- Reposted by Elfride De Baere[Not loaded yet]
- Reposted by Elfride De Baere[Not loaded yet]
