RARE-MED
@RAREMED1
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RARE-MED is a multidisciplinary UGent consortium for basic and translational research on precision medicine for rare diseases.
Joined November 2020
RT @elfridedebaere: Dr. Nathan SMITS @natenstuff1 @QldBrainInst @OfQueensland Brisbane, Australia will talk about Nanopore sequencing in tr….
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RT @ugent_fge: 🗓️Op 21 maart organiseert onze faculteit haar jaarlijkse Research Day. 💡Laat je inspireren door het baanbrekend onderzoek v….
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RT @eshgsociety: ESHG Dysmorphology workshops in new form! Submit your cases to be presented at the hybrid #eshg2024 conference in Berlin u….
2024.eshg.org
Dysmorphology Case submission is now closed. The submission deadline was Tuesday, April 16, 2024 at 23:59 hrs CEST. The first ESHG Dysmorphology workshop run in Genoa, in 1997, by Dian Donnai and...
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RT @GIMJournal: When determining whether a particular variant is likely pathogenic, which search tool provides the best results for researc….
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RT @NatureRevGenet: Prime editing for precise and highly versatile genome manipulation #Review by @PeterJ_Chen & @d….
nature.com
Nature Reviews Genetics - In this Review, Chen and Liu discuss the latest developments in prime editing systems, including improvements to their editing efficiency and capabilities, as well as...
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RT @Nature: Researchers have found the oldest known sex chromosome in animals — the octopus Z chromosome — which first evolved in an ancien….
nature.com
Nature - Result reveals for the first time how some cephalopods determine sex.
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RT @MiloFasken: #dCas13-mediated #translational #repression for accurate gene #silencing in #mammalian cells | Nature Communications https:….
nature.com
Nature Communications - Current gene silencing tools can have drawbacks. Here the authors report CRISPRδ, an approach for translational silencing, harnessing catalytically inactive Cas13...
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RT @BuijsenRonald: Registration is open (also for researchers from the neighbouring countries).
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RT @GenomicsEngland: Save the date! 📣 We are delighted to announce this year's Genomics England Research Summit will be held in-person on T….
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RT @GeneticsSociety: During #MedicalGeneticsAwareness Week, we celebrate the skills and commitment of those on healthcare teams who transla….
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RT @GIMJournal: New #EditorsChoice: Genome-wide sequencing such as exome sequencing (ES) or genome sequencing (GS) may be more effective (a….
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RT @elfridedebaere: 🎯 Our approach revealed a diagnosis in 73%. We reported non-syndromic RIMS2-IRD. We found a retina-enriched RIMS2 isofo….
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RT @Magda_Skipper: Too few women are submitting research to Nature as corresponding authors. This week’s editorial looks at the data behind….
nature.com
Nature - This journal will double down on efforts to diversify the pool of corresponding authors and referees.
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RT @NatureRevGenet: Today is #RareDiseaseDay! As part of a collection from @BioMedCentral & @SpringerNature (, thre….
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RT @GeneticsSociety: We advocate for equity in healthcare and access to treatments for those living with rare diseases. Genetic research pl….
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RT @CollegeGenet_RD: #RareDiseaseDay There are over 6,000 rare diseases affecting more than 500,000 Belgians. Let's unite in spreading awar….
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RT @AJHGNews: 📢New from Brugger et al. 📰Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epilepti….
cell.com
We identified bi-allelic variants in SNF8, encoding a subunit of the ESCRT-II complex, in individuals presenting with a disease spectrum ranging from epileptic encephalopathy to syndromic optic...
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