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
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
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
January 13, 2026 at 9:08 PM
🚀 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
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
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
January 13, 2026 at 8:39 PM
👀 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
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
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
🔬 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
January 13, 2026 at 4:56 PM
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
🔬 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
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
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
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
➡️ www.nature.com/articles/s41...
#AcademicBlueSky #Genetics #VisionResearch #IRDs
January 9, 2026 at 10:05 AM
🧬 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
➡️ www.nature.com/articles/s41...
#AcademicBlueSky #Genetics #VisionResearch #IRDs
Reposted by Elfride De Baere
📢 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...
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
www.eshg.org
October 27, 2025 at 4:43 PM
📢 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...
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...
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.
👉 cattendee.abstractsonline.com/meeting/21105
📹 After Nov 30, plenary & educational sessions will be on the ESHG YouTube channel
@eshg.bsky.social
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
October 24, 2025 at 11:13 AM
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
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
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
Don’t miss this powerful closing session of #ASHG25!📲 https://bit.ly/474ALFu #ASHG
October 18, 2025 at 3:38 PM
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
Don’t miss this powerful closing session of #ASHG25!📲 https://bit.ly/474ALFu #ASHG
Reposted by Elfride De Baere
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!
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!
October 18, 2025 at 6:03 PM
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!
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!
Reposted by Elfride De Baere
#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
🖥️ 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
#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
🖥️ On-demand access to recorded sessions is coming soon!
Learn at your pace, anytime, anywhere. Stay tuned for details! #ASHG #HumanGenetics
Reposted by Elfride De Baere
🚨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...
October 21, 2025 at 5:20 PM
🚨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! 🚀🧬✨
Now: JangKeun Kim: Multi-omic dynamics of human spaceflight and interplanetary biology #ASHG25 🧪🧬🖥️
PheedLoop
meetings.ashg.org
October 14, 2025 at 10:35 PM
Exciting! 🚀🧬✨
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
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
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
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
🎉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!
📱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!
October 14, 2025 at 2:45 PM
🎉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!
📱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!
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
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
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
October 14, 2025 at 9:11 PM
“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
#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
doi.org/10.1167/iovs.66.12.53
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
#RPE65
#dominant
#maculopathy
#AMD
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
doi.org/10.1167/iovs.66.11.73
August 29, 2025 at 2:39 PM
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
doi.org/10.1167/iovs.66.11.73
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
doi.org/10.1167/iovs.66.13.10
October 6, 2025 at 1:50 PM
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
doi.org/10.1167/iovs.66.13.10
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
#MultiOmics #Ophthalmology
@elfridedebaere.bsky.social
October 2, 2025 at 2:45 PM
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
#MultiOmics #Ophthalmology
@elfridedebaere.bsky.social
Reposted by Elfride De Baere
📣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
🧑🤝🧑 @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
📣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
🧑🤝🧑 @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
📄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
📣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 #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
📄Genetic architecture and analysis practices of circulating metabolites in the NHLBI Trans-Omics for Precision Medicine Program
#TOPMed
Genetic architecture and analysis practices of circulating metabolites in the NHLBI Trans-Omics for Precision Medicine Program
We cataloged 1,729 circulating metabolites from two metabolomics core laboratories
among eight studies. We provided recommendations for TOPMed metabolite data harmonization
and processing. We also pro...
www.cell.com
September 18, 2025 at 4:53 PM
📣New from Wang et al!
📄Genetic architecture and analysis practices of circulating metabolites in the NHLBI Trans-Omics for Precision Medicine Program
#TOPMed
📄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
📄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...
www.cell.com
September 18, 2025 at 4:55 PM
📣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
Reposted by Elfride De Baere
📣New from @vijayganesh.bsky.social & co!
📄Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
📄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...
www.cell.com
September 19, 2025 at 4:29 PM
📣New from @vijayganesh.bsky.social & co!
📄Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
📄Transcriptome-wide outlier approach identifies individuals with minor spliceopathies