RARE-MED

Dr. Nathan SMITS @natenstuff1 @QldBrainInst @OfQueensland Brisbane, Australia will talk about Nanopore sequencing in transposable element research When? June 20, 3.30pm-4.30pm CEST Where? UZ Gent, MRB1 (entrance 34), room 120.057 or shorturl.at/8yX1y #LRS #ONT #TE

🗓️Op 21 maart organiseert onze faculteit haar jaarlijkse Research Day. 💡Laat je inspireren door het baanbrekend onderzoek van gerenommeerde sprekers, woon boeiende presentaties van (student)onderzoekers bij en volg leerrijke workshops. 🔗Alle info via ugent.be/ge/nl/onderzoe…

ESHG Dysmorphology workshops in new form! Submit your cases to be presented at the hybrid #eshg2024 conference in Berlin until April 10. Shortlisting of presentations will be based on expert review. More information: 2024.eshg.org/programme-at-a…

When determining whether a particular variant is likely pathogenic, which search tool provides the best results for researchers and clinicians? The March GenePod features a discussion about how four resources reward different search strategies: bit.ly/48HPN1v #datamining

Prime editing for precise and highly versatile genome manipulation go.nature.com/3zUB9Wc #Review by @PeterJ_Chen & @davidrliu Free to read here: rdcu.be/cZaEn

Researchers have found the oldest known sex chromosome in animals — the octopus Z chromosome — which first evolved in an ancient ancestor of octopuses around 380 million years ago go.nature.com/4a80fkd

#dCas13-mediated #translational #repression for accurate gene #silencing in #mammalian cells | Nature Communications nature.com/articles/s4146…

Registration is open (also for researchers from the neighbouring countries).

Save the date! 📣 We are delighted to announce this year's Genomics England Research Summit will be held in-person on Tuesday 9 July 2024, at the Business Design Centre, London. Find more information here: ow.ly/zYty50QRoqQ #GERS2024

We are honored to have worked with other journal editors to provide guidance on the use of population descriptors in #Genetics and #Genomics research bit.ly/3TzaUi4

During #MedicalGeneticsAwareness Week, we celebrate the skills and commitment of those on healthcare teams who translate #genetics and #genomics discoveries into better patient care and public health. Visit @TheACMG's website to learn more and celebrate: acmg.net/MedicalGenetic…

New #EditorsChoice: Genome-wide sequencing such as exome sequencing (ES) or genome sequencing (GS) may be more effective (and cost less!) than conventional diagnostic pathways in diagnosing children with neurodevelopmental disorders bit.ly/3sW2eId

🎯 Our approach revealed a diagnosis in 73%. We reported non-syndromic RIMS2-IRD. We found a retina-enriched RIMS2 isoform conserved but not annotated in mouse and report two novel candidate IRD genes. 👏👏 👏@DelpoMarta @DrBasamat & team @ClinGenetNews #IRD #RIMS2 #isoform

Too few women are submitting research to Nature as corresponding authors. This week’s editorial looks at the data behind the unacceptably low numbers of papers from women senior authors in Nature #womeninSTEM nature.com/articles/d4158…

#RareDiseaseDay #ShareYourColours @uzgent @CZZ_PrOZA 🧡💙💚💜

Today is #RareDiseaseDay! As part of a collection from @BioMedCentral & @SpringerNature (go.nature.com/3IjIcLM), three of our reviews will be free for 2 weeks! #RareDiseaseDay2024

Fits perfectly with #RareDiseaseDay #ShareYourColours 👌

We advocate for equity in healthcare and access to treatments for those living with rare diseases. Genetic research plays a vital role in advancing treatments and diagnostics. Let's make a difference in the lives of millions.🌍#RareDiseaseDay #ASHG rarediseaseday.org

#RareDiseaseDay There are over 6,000 rare diseases affecting more than 500,000 Belgians. Let's unite in spreading awareness, advocating for change, and supporting those navigating the unique challenges of rare diseases. #DeelJeKleuren #PartageTesCouleurs #raresensemble

📢New from Brugger et al. 📰Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy cell.com/ajhg/fulltext/…