Lightnews — Scholar-powered news

Elfride De Baere @elfridedebaere.bsky.social · 5h

@erdc-team.bsky.social
@fwovlaanderen.bsky.social
@ugent-fge.bsky.social
@uzgent.bsky.social

Elfride De Baere @elfridedebaere.bsky.social · 5h

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 @arvoiovs.bsky.social · 15d

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

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Reposted by Elfride De Baere

arvoiovs.bsky.social @arvoiovs.bsky.social · Aug 29

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

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Reposted by Elfride De Baere

arvoiovs.bsky.social @arvoiovs.bsky.social · 2d

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

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Reposted by Elfride De Baere

European Society of Human Genetics @eshg.bsky.social · 6d

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

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Reposted by Elfride De Baere

The American Journal of Human Genetics @ajhgnews.bsky.social · 22d

📣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...

www.cell.com

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Reposted by Elfride De Baere

The American Journal of Human Genetics @ajhgnews.bsky.social · 21d

📣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...

www.cell.com

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Reposted by Elfride De Baere

The American Journal of Human Genetics @ajhgnews.bsky.social · 20d

📣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

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

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Reposted by Elfride De Baere

The American Journal of Human Genetics @ajhgnews.bsky.social · 20d

📣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...

www.cell.com

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Reposted by Elfride De Baere

The American Journal of Human Genetics @ajhgnews.bsky.social · 19d

📣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...

www.cell.com

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Reposted by Elfride De Baere

American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 21d

Happy Postdoc Appreciation Week!

In honor of this, we are asking PIs to tell us why their postdoc is awesome. Tag your postdocs to show them how much you appreciate them!

#MyPostdocIsAwesomeBeacuse #ASHG #HumanGenetics #NPAW2025 #NationalPostdocAppreciationWeek

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Reposted by Elfride De Baere

American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 19d

From trainees to faculty—#ASHG25 is a hub for career growth at every stage, offering opportunities to:
✅Meet & hire colleagues
✅Learn something new

Register today: https://bit.ly/46dWz0Z
Plan your career fueling schedule: https://bit.ly/4gr4ATV
#ASHG #HumanGenetics

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Reposted by Elfride De Baere

European Society of Human Genetics @eshg.bsky.social · Jul 29

🌍 New in Nature: Long-read sequencing of 1019 genomes reveals structural variant (SV) diversity across 26 human populations, providing a global resource for understanding genetic variation and its link to human disease.
#Genomics #Pangenome #SVs

www.nature.com/articles/s41...

Structural variation in 1,019 diverse humans based on long-read sequencing - Nature

Intermediate-coverage long-read sequencing in 1,019 diverse humans from the 1000 Genomes Project, representing 26 populations, enables the generation of comprehensive population-scale structural…

www.nature.com

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Reposted by Elfride De Baere

European Society of Human Genetics @eshg.bsky.social · Aug 22

📢Paper alert!
WGS of >490K UKB participants across diverse ancestries, combined with rich phenotypic data, unlocks novel genotype–phenotype associations, accelerating precision medicine and global health research. 🌍🧬
#Genomics #UKB #PrecisionMedicine

www.nature.com/articles/s41...

Whole-genome sequencing of 490,640 UK Biobank participants - Nature

A study reports whole-genome sequences for 490,640 participants from the UK Biobank and combines these data with phenotypic data to provide new insights into the relationship between human variation…

www.nature.com

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Reposted by Elfride De Baere

European Society of Human Genetics @eshg.bsky.social · Sep 1

Published 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...

Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders - European Journal of Human Genetics

European Journal of Human Genetics - Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders

www.nature.com

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Reposted by Elfride De Baere

European Society of Human Genetics @eshg.bsky.social · Sep 4

📢 Episode 6 of the #ESHG Webinar Series: September 24 at 16:00 CEST
🧬 Speaker: Serena Nik-Zainal: "Recent advances in mutational signatures and clinical applications"
💻 Registration is free but required: buff.ly/P6WD5jB
📩 Past registrants will receive the Zoom link automatically.

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Reposted by Elfride De Baere

European Society of Human Genetics @eshg.bsky.social · Sep 8

Nominations are open for the Leena Peltonen Prize 2026 (€10,000).

candidates: outstanding young researchers, Early career stage, no age or graduation limit
Awardee will give the Leena Peltonen Lecture at #eshg2026 in Gothenburg.

📅 Deadline: 31 Oct 2025
🔗 forms.eshg.org/leena-pelton...

Leena Peltonen Prize 2026 – Submission of Nomination

forms.eshg.org

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Reposted by Elfride De Baere

European Society of Human Genetics @eshg.bsky.social · 29d

Published in @ejhg-journal.bsky.social:

1️⃣ European Certificate in Medical Genetics & Genomics (ECMGG): buff.ly/CUpaOWd

2️⃣ European Training Requirements for Medical Genetics (ETR-MG): buff.ly/DgCPtde

The European Certificate in Medical Genetics and Genomics (ECMGG) - European Journal of Human Genetics

European Journal of Human Genetics - The European Certificate in Medical Genetics and Genomics (ECMGG)

buff.ly

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Reposted by Elfride De Baere

European Society of Human Genetics @eshg.bsky.social · 20d

We are deeply saddened by the passing of Albert Schinzel (1944–2025), former ESHG President and pioneer in clinical cytogenetics. His legacy includes the Catalogue of Unbalanced Chromosome Aberrations in Man and the Goldrain Course.

Read more:

Farewell to Albert Schinzel, former President of ESHG

09/18/2025

www.eshg.org

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Elfride De Baere @elfridedebaere.bsky.social · 20d

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

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Elfride De Baere @elfridedebaere.bsky.social · 20d

IOB - Institute of Molecular and Clinical Ophthalmology Basel @iobswiss.bsky.social · 22d

🧬 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

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Reposted by Elfride De Baere

Centro Andaluz de Biología del Desarrollo @cabd-upo-csic.bsky.social · 27d

@jrmarmor.bsky.social from #CABD was one of the keynote speakers of the Genetics of Ocular Development in Ghent in the past days!

Elfride De Baere @elfridedebaere.bsky.social · 28d

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

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Reposted by Elfride De Baere

Fabiola Ceroni @ceronifabiola.bsky.social · 28d

The #GoOD2025 meeting is over, it was sooo good to catch up with these lovely people and hear about their fantastic work!
Thanks to @elfridedebaere.bsky.social and her team for organising such an amazing event in beautiful Ghent.
We had a lot of fun and hope to be back soon!!
#goodsocmeeting2025

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Elfride De Baere @elfridedebaere.bsky.social · 28d

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

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Elfride De Baere @elfridedebaere.bsky.social · 28d

👏 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

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