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RARE-MED Profile
RARE-MED

@RAREMED1

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2K

RARE-MED is a multidisciplinary UGent consortium for basic and translational research on precision medicine for rare diseases.

Joined November 2020
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@elfridedebaere
Elfride De Baere
1 year
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 https://t.co/dCWVzJnsQK #LRS #ONT #TE
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@ugent_fge
UGent Geneeskunde & Gezondheidswetenschappen
2 years
๐Ÿ—“๏ธOp 21 maart organiseert onze faculteit haar jaarlijkse Research Day. ๐Ÿ’กLaat je inspireren door het baanbrekend onderzoek van gerenommeerde sprekers, woon boeiende presentaties van (student)onderzoekers bij en volg leerrijke workshops. ๐Ÿ”—Alle info via https://t.co/sbCcjZy8ig
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@eshgsociety
European Society of Human Genetics (ESHG)
2 years
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: https://t.co/sqSViB2D3n
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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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@GIMJournal
Genetics in Medicine
2 years
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: https://t.co/gTieVjLtwE #datamining
@GIMJournal
Genetics in Medicine
2 years
No tool can do it all. Thorough #biocuration still relies on multiple #literaturemining tools https://t.co/vAg3sW4u2A #RYR1 #variantclassification
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@Nature
nature
2 years
Researchers have found the oldest known sex chromosome in animals โ€” the octopus Z chromosome โ€” which first evolved in an ancient ancestor of octopuses around 380 million years ago
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nature.com
Nature - Result reveals for the first time how some cephalopods determine sex.
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@BuijsenRonald
Ronald Buijsen
2 years
Registration is open (also for researchers from the neighbouring countries).
@Dutch_Antisense
Dutch Antisense Therapeutics
2 years
The 3rd edition of the Dutch Antisense Therapeutic Symposium (#DATS2024) in Rotterdam is coming up! Make sure to register for this 2-day event on May 23rd and 24th via https://t.co/HmILa8l0eC! @atzeb1 @Jandritu @schneider_fleur @JeroenBremer @BuijsenRonald #DCRT
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@GenomicsEngland
Genomics England
2 years
Save the date! ๐Ÿ“ฃ 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: https://t.co/hHeZ1pWfHo #GERS2024
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@AJHGNews
AJHG
2 years
We are honored to have worked with other journal editors to provide guidance on the use of population descriptors in #Genetics and #Genomics research https://t.co/QSzsQkry33
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@GeneticsSociety
ASHG
2 years
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: https://t.co/wmNnvfEo0a
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@GIMJournal
Genetics in Medicine
2 years
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 https://t.co/l9IiXq5BWI
@GIMJournal
Genetics in Medicine
2 years
Is earlier access to #exome and #genome sequencing for #developmentaldelay #intellectualdisability and #seizure disorders cost effective? https://t.co/hYaCT4pceH
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@elfridedebaere
Elfride De Baere
2 years
๐ŸŽฏ 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. ๐Ÿ‘๐Ÿ‘ ๐Ÿ‘@DelpoMarta @DrBasamat & team @ClinGenetNews #IRD #RIMS2 #isoform
@DelpoMarta
Marta Delpo
2 years
Our paper is out! ๐Ÿ“ข Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform #IRDs #rarediseases #RIMS2 #automap thanks @elfridedebaere & al https://t.co/eja4dNhHf1
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@Magda_Skipper
Magdalena Skipper
2 years
Too few women are submitting research to Nature as corresponding authors. This weekโ€™s editorial looks at the data behind the unacceptably low numbers of papers from women senior authors in Nature #womeninSTEM https://t.co/v6rM9ytn8z
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nature.com
Nature - This journal will double down on efforts to diversify the pool of corresponding authors and referees.
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@RAREMED1
RARE-MED
2 years
#RareDiseaseDay #ShareYourColours @uzgent @CZZ_PrOZA ๐Ÿงก๐Ÿ’™๐Ÿ’š๐Ÿ’œ
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@NatureRevGenet
Nature Reviews Genetics
2 years
Today is #RareDiseaseDay! As part of a collection from @BioMedCentral & @SpringerNature ( https://t.co/kKhgPa6sDu), three of our reviews will be free for 2 weeks! #RareDiseaseDay2024
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@elfridedebaere
Elfride De Baere
2 years
Fits perfectly with #RareDiseaseDay #ShareYourColours ๐Ÿ‘Œ
@MacDonald_Lab
Ryan MacDonald
2 years
Weโ€™re excited to share our most recent paper where we adapted the IBEX technique to label every cell type in the retina. If youโ€™re stuck with antibodies raised in the same animal or want to see more proteins/cells at the same time, this could help. https://t.co/P9Ra1fR6oF
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@GeneticsSociety
ASHG
2 years
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.๐ŸŒ#RareDiseaseDay #ASHG https://t.co/cVNtWFCLQt
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@CollegeGenet_RD
College Genetics & Rare Diseases
2 years
#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
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@AJHGNews
AJHG
2 years
๐Ÿ“ขNew from Brugger et al. ๐Ÿ“ฐBi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy https://t.co/QFpta0GGwp
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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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