Elfride De Baere
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elfridedebaere.bsky.social
Elfride De Baere
@elfridedebaere.bsky.social
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
๐Ÿš€ Thrilled to join #ISV2026 in Leuven!
Genomic scientists - this is your meeting: exciting science, talks, posters, networking & an epic party in a unique venue.

๐Ÿ—“ Deadlines:

Abstracts: Feb 9
Early Bird: Mar 9

๐Ÿ”— Details & registration: lnkd.in/gsE6ibfE
#ISV2026 #Genomics
January 13, 2026 at 9:08 PM
Discover how multi-omics approaches, integrating genomics, transcriptomics, and epigenomics, can not only solve diagnoses but also opens the door to new therapeutic opportunities. ๐Ÿงฌ๐Ÿ”ฌ

๐Ÿ“บ 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
January 13, 2026 at 8:39 PM
๐Ÿ‘€ 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".

๐Ÿ“บ 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
January 13, 2026 at 8:39 PM
๐ŸŒŸ Bonus: Workshops on manuscript prep, grant writing, posters & social mingling. A great opportunity for PhD students, postdocs & early-career researchers.
๐Ÿ“Ž Abstracts/registration open โ€“ check FEBS site for details and funding support!
Full programme: retinaexvivo2026.febsevents.org/preliminary-...
Preliminary programme
8 โ€“ 12 June 2026 โ”‚ Kuopio, Finland Preliminary programme
retinaexvivo2026.febsevents.org
January 13, 2026 at 4:56 PM
Retina Ex Vivo 2026 is just around the corner! ๐Ÿงฌ This FEBS course dives into organotypic retina cultures:

๐Ÿ”ฌ Day 1: Dissection, culture methods & ocular drug delivery (Keynote: Arto Urtti)
๐Ÿง  Day 2: Disease modeling (IRD, AMD, DR, glaucoma)
๐Ÿงช Day 3: Gene therapy, RNA tools & Keynote by K Palczewski
January 13, 2026 at 4:56 PM
Reposted by Elfride De Baere
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
January 12, 2026 at 4:52 PM
Reposted by Elfride De Baere
๐Ÿงฌ 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.
โžก๏ธ www.nature.com/articles/s41...
#AcademicBlueSky #Genetics #VisionResearch #IRDs
January 9, 2026 at 10:05 AM
Reposted by Elfride De Baere
๐Ÿ“ข Donโ€™t miss Covering The Gaps โ€“ The Course You Didnโ€™t Know You Needed!

Explore overlooked but crucial topics in genetics: ethics, quality, data sharing & more.

๐Ÿ—“๏ธ Online | Nov 27โ€“28, 2025
๐Ÿ’ถ โ‚ฌ100 | ๐ŸŽ“ 15 CME credits
โš ๏ธ Limited spots available!

๐Ÿ‘‰ Register now: www.eshg.org/covering-the...
ESHG: Covering The Gaps - The Course You Didnโ€™t Know You Needed
Covering The Gaps
www.eshg.org
October 27, 2025 at 4:43 PM
Reposted by Elfride De Baere
Want to rewatch sessions from #ESHG2025 Milan?
You can access all conference content until Nov 30, 23:59 CET from any device.
๐Ÿ‘‰ cattendee.abstractsonline.com/meeting/21105

๐Ÿ“น After Nov 30, plenary & educational sessions will be on the ESHG YouTube channel

@eshg.bsky.social
October 24, 2025 at 11:13 AM
Reposted by Elfride De Baere
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.

Donโ€™t miss this powerful closing session of #ASHG25!๐Ÿ“ฒ https://bit.ly/474ALFu #ASHG
October 18, 2025 at 3:38 PM
Reposted by Elfride De Baere
Thatโ€™s a wrap on #ASHG25!

In just 5 days, we:
๐ŸงฌShowcased groundbreaking science
๐ŸคSparked powerful connections
๐Ÿ†Celebrated excellence
๐Ÿ“ธCaptured unforgettable moments

Thank you for the energy, ideas, and inspiration. We look forward to seeing you in Montreal, CA for #ASHG26!
October 18, 2025 at 6:03 PM
Reposted by Elfride De Baere
#ASHG25 may be over, but the learning continues:

๐Ÿ–ฅ๏ธ On-demand access to recorded sessions is coming soon!

Learn at your pace, anytime, anywhere. Stay tuned for details! #ASHG #HumanGenetics
October 18, 2025 at 8:21 PM
Reposted by Elfride De Baere
๐ŸšจComing in December: Dive into our Genetic Diagnosis & Rare Disease Virtual Symposium! From detecting complex structural variants to accelerating time-to-diagnosis with integrative genomicsโ€”this event is packed with innovation. Reserve your place now: learning.ashg.org/products/202...
October 21, 2025 at 5:20 PM
Exciting! ๐Ÿš€๐Ÿงฌโœจ
Now: JangKeun Kim: Multi-omic dynamics of human spaceflight and interplanetary biology #ASHG25 ๐Ÿงช๐Ÿงฌ๐Ÿ–ฅ๏ธ
PheedLoop
meetings.ashg.org
October 14, 2025 at 10:35 PM
Reposted by Elfride De Baere
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
October 14, 2025 at 11:20 AM
Reposted by Elfride De Baere
๐ŸŽ‰Welcome to #ASHG25! Weโ€™re excited for five days full of sessions, networking, and inspiration.

๐Ÿ“ฑPro tip: Download our mobile app for easy access to the schedule, maps, and updates: https://pheedloop.com/ASHG25/

Letโ€™s make this an unforgettable experienceโ€”explore, connect, and share your journey!
October 14, 2025 at 2:45 PM
Reposted by Elfride De Baere
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
October 13, 2025 at 9:41 AM
Reposted by Elfride De Baere
โ€œWe must keep going with this ability to sample genomes, not just in the convenient places we started out with.โ€ - former Director of the National Institutes of Health, Francis Collins, MD, PhD, during his recognition speech at #ASHG25
October 14, 2025 at 9:11 PM
October 8, 2025 at 9:35 PM
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
October 8, 2025 at 9:35 PM
Reposted by Elfride De Baere
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
August 29, 2025 at 2:39 PM
Reposted by Elfride De Baere
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
October 6, 2025 at 1:50 PM
Reposted by Elfride De Baere
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
October 2, 2025 at 2:45 PM
Reposted by Elfride De Baere
๐Ÿ“ฃOnline now!
๐Ÿ“„RetiGene, a comprehensive gene atlas for inherited retinal diseases
๐Ÿง‘โ€๐Ÿคโ€๐Ÿง‘ @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...
www.cell.com
September 16, 2025 at 4:42 PM
Reposted by Elfride De Baere
๐Ÿ“ฃNew from Liu et al!
๐Ÿ“„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...
www.cell.com
September 17, 2025 at 3:13 PM