#raredisease — Public Fediverse posts
Live and recent posts from across the Fediverse tagged #raredisease, aggregated by home.social.
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Base editing approach repairs deadly Dravet syndrome mutation in mice
Gene editing can repair a DNA error in mice that causes Dravet syndrome, a rare, incurable, and potentially…
#NewsBeep #News #Health #Adenine #AU #Australia #Brain #Children #dna #DravetSyndrome #Epilepsy #food #Gene #Genetic #Hospital #Laboratory #MedicalSchool #medicine #MouseModel #Mutation #Neurons #Preclinical #raredisease #research #Syndrome
https://www.newsbeep.com/au/669882/ -
Base editing approach repairs deadly Dravet syndrome mutation in mice
Gene editing can repair a DNA error in mice that causes Dravet syndrome, a rare, incurable, and potentially…
#NewsBeep #News #Health #Adenine #AU #Australia #Brain #Children #dna #DravetSyndrome #Epilepsy #food #Gene #Genetic #Hospital #Laboratory #MedicalSchool #medicine #MouseModel #Mutation #Neurons #Preclinical #raredisease #research #Syndrome
https://www.newsbeep.com/au/669882/ -
Pipeline release! nf-core/raredisease v3.0.0 - 3.0.0 - Mario!
Call and score variants from WGS/WES of rare disease patients.
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/3.0.0#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics
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Liebe Mitmenschen.
Nur noch bis Ende 11.05.2026! #icd11jetzt - Schnellere & bessere Hilfe für Kranke. Bitte zeichnet!
JEDE Stimme hilft!
#Lyme #mecfs #LongCovid #lgbtq+ #ChronicPain #RareDisease und viele mehr!Petitions-Link:
https://epetitionen.bundestag.de/content/petitionen/_2025/_09/_16/Petition_186702.html
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Liebe Mitmenschen.
Nur noch bis Ende 11.05.2026! #icd11jetzt - Schnellere & bessere Hilfe für Kranke. Bitte zeichnet!
JEDE Stimme hilft!
#Lyme #mecfs #LongCovid #lgbtq+ #ChronicPain #RareDisease und viele mehr!Petitions-Link:
https://epetitionen.bundestag.de/content/petitionen/_2025/_09/_16/Petition_186702.html
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Liebe Mitmenschen.
Nur noch bis Ende 11.05.2026! #icd11jetzt - Schnellere & bessere Hilfe für Kranke. Bitte zeichnet!
JEDE Stimme hilft!
#Lyme #mecfs #LongCovid #lgbtq+ #ChronicPain #RareDisease und viele mehr!Petitions-Link:
https://epetitionen.bundestag.de/content/petitionen/_2025/_09/_16/Petition_186702.html
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Liebe Mitmenschen.
Nur noch bis Ende 11.05.2026! #icd11jetzt - Schnellere & bessere Hilfe für Kranke. Bitte zeichnet!
JEDE Stimme hilft!
#Lyme #mecfs #LongCovid #lgbtq+ #ChronicPain #RareDisease und viele mehr!Petitions-Link:
https://epetitionen.bundestag.de/content/petitionen/_2025/_09/_16/Petition_186702.html
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Liebe Mitmenschen.
Nur noch bis Ende 11.05.2026! #icd11jetzt - Schnellere & bessere Hilfe für Kranke. Bitte zeichnet!
JEDE Stimme hilft!
#Lyme #mecfs #LongCovid #lgbtq+ #ChronicPain #RareDisease und viele mehr!Petitions-Link:
https://epetitionen.bundestag.de/content/petitionen/_2025/_09/_16/Petition_186702.html
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Nur noch bis Ende 11.05.2026! #icd11jetzt - Schnellere & bessere Hilfe für Kranke. Bitte zeichnet!
JEDE Stimme hilft! #Lyme #mecfs #LongCovid #lgbtq+ #ChronicPain #RareDisease und viele mehr! Petitions-Link:
https://epetitionen.bundestag.de/content/petitionen/_2025/_09/_16/Petition_186702.html
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I’ll attend the #EuroNDD Workshop in Warsaw in April. Anyone around the Fediverse going there as well? —> let’s connect!
I’m looking forward to present our work at https://www.findme2care.de AND hear about all the other projects.
Also: I’ll be co-hosting an educational session and roundtable discussion titled „Building Patient Registries under the GDPR – The Good, the Bad and the Ugly“ —> there are a few seats left for conference attendees!
#humangenetics #genetics #RareDiseases #RareDisease #ERN #ERNIthaca #patientregistry
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#PWS is caused by a loss of function of genes on chromosome 15. These genes are peculiar, because they are in normal condition always expressed only from the paternal allele, the allele which is coming from the father, and not from both maternal and alleles – due to an epigenetic phenomenon called #GenomicImprinting. PWS patients either have parts of the paternal allele deleted or they have maternal uniparental disomy (#UPD) – a condition with effectively two maternal alleles instead of paternal and maternal alleles. This leads to a condition where some genes are not expressed at all, thus, their proteins and functions are missing for the proper development and functioning of the human body.
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📢 On Sept 17, join the GHGA lecture series Advances in Data-Driven Biomedicine!
Leslie Matalonga (CNAG, Barcelona) will present: The Genome-Phenome Analysis Platform (GPAP) for rare disease researchRegister: https://t1p.de/u69h8
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Pipeline release! nf-core/raredisease v2.6.0 - 2.6.0 - Cacofonix!
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/2.6.0
#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics
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Pipeline release! nf-core/raredisease v2.5.0 - 2.5.0 - Fulliautomatix!
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/2.5.0
#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics
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Pipeline release! nf-core/raredisease v2.4.0 - 2.4.0 - Vitalstatistix!
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/2.4.0
#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics
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Pipeline release! nf-core/raredisease v2.3.0 - 2.3.0 - Getafix!
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/2.3.0
#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics
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📣 A new star is born in the cilia world and cell death galaxy: Emilia Kieckhöfer brilliantly defended her PhD today! Congratulations!!! 🎉🥳👍
#cilia #necroptosis #bbs #raredisease #ciliopathies #celldeath #apoptosis #kidney #cysts #Nphp #Zilien
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📣 A new star is born in the cilia world and cell death galaxy: Emilia Kieckhöfer brilliantly defended her PhD today! Congratulations!!! 🎉🥳👍
#cilia #necroptosis #bbs #raredisease #ciliopathies #celldeath #apoptosis #kidney #cysts #Nphp #Zilien
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📣 A new star is born in the cilia world and cell death galaxy: Emilia Kieckhöfer brilliantly defended her PhD today! Congratulations!!! 🎉🥳👍
#cilia #necroptosis #bbs #raredisease #ciliopathies #celldeath #apoptosis #kidney #cysts #Nphp #Zilien