28 February 2024
Updates from data resources
Version 11.24 of DECIPHER introduces a new ACMG/AMP pathogenicity interface for sequence variant predictions, displays ClinGen Variant Curation Expert Panel recommendations on gene pages, and updates ACMG secondary finding information to v3.2.
2024
updates-from-data-resources
6 July 2023
Announcements, EMBL Announcements, Science
Closer collaborations with EMBL-EBI data resources set to further develop and grow this unique rare disease platform.
2023
announcementsembl-announcementsscience
8 June 2023
Perspectives, Science, Science & Technology
EMBL-EBI data resources are being used to deliver thousands of genetic diagnostics to patients every month.
2023
perspectivessciencescience-technology
9 March 2023
Research highlights, Science
EMBL-EBI researchers use UK Biobank data to uncover new information about rare diseases of the eye.
2023
research-highlightsscience
28 February 2023
Perspectives, Science
Why open data from model organisms is essential for rare disease research.
15 July 2022
Lab Matters, Science & Technology
The GEEF facility at EMBL Rome supports scientists worldwide with scientific expertise and state-of-the-art gene editing technologies.
2022
lab-mattersscience-technology
28 April 2022
Science, Science & Technology
Scientists at EMBL Barcelona have created for the first time a 3D in vitro model that recapitulates the periodic formation of human somites – structures that give rise to the spinal column.
2022
sciencescience-technology
9 December 2021
Science, Science & Technology
New structural biology research provides fundamental information critical to understanding enzyme mutations connected to rare diseases and cancers.
2021
sciencescience-technology
24 November 2021
Lab Matters, People & Perspectives
Tudor Groza joins EMBL-EBI as our new Phenomics Team Lead. We found out from Tudor exactly what this new role will entail
2021
lab-matterspeople-perspectives
4 March 2021
Science, Science & Technology
Scientists in the Stegle group and colleagues have studied induced pluripotent stem cells from around 1,000 donors to identify correlations between individual genetic variants and altered gene expression. They linked more than 4,000 of the genetic variants responsible for altered expression…
2021
sciencescience-technology
8 February 2021
Science, Science & Technology
New EMBL research shows where & to what degree a component of cellular machinery known as RNA Pol III is mutated and becomes problematic.
2021
sciencescience-technology
30 June 2020
Connections, Lab Matters
A national consortium including EMBL and the DKFZ is set to launch the German Human Genome–Phenome Archive, creating an invaluable bridge between fundamental biomedical research and applied healthcare.
2020
connectionslab-matters
22 May 2020
Science, Science & Technology
Researchers in EMBL’s Zaugg group have studied the causes of pulmonary arterial hypertension (PAH), a rare disease that causes high blood pressure in the arteries of the lungs. The study, carried out in collaboration with Stanford University School of Medicine, compared lung cells of patients…
2020
sciencescience-technology
3 April 2020
Science, Science & Technology
EMBL scientists examine the molecular causes of a rare hereditary disease of the spine and ribs
2020
sciencescience-technology
4 February 2020
Science, Science & Technology
New resource that categorises genes essential for supporting life could be used to identify rare disease mutations
2020
sciencescience-technology
23 July 2019
Picture of the week, Science & Technology
Every single moment of our life we use our muscles – most of the time without even thinking about it. Some muscles, like our heart, we cannot even control at all. How our brain communicates with our muscles is still not fully understood. The communication between our brain and our skeletal…
2019
picture-of-the-weekscience-technology
24 January 2019
Science, Science & Technology
Federated data sharing will now be possible on an unprecedented scale
2019
sciencescience-technology
17 December 2018
Science, Science & Technology
EMBL researchers have found a way to stop itch with light in mice
2018
sciencescience-technology
10 May 2018
Science, Science & Technology
Researchers identify genes that can cause brain tumours in children and other cancers later in life
2018
sciencescience-technology
27 May 2015
Lab Matters
ELIXIR receives major Horizon 2020 funding to ‘EXCELERATE' activities over the next four years.
12 September 2013
Science, Science & Technology
Scientists at the European Molecular Biology Laboratory (EMBL) in Heidelberg and Regensburg University, both in Germany, and the University of Lisboa, in Portugal, have discovered a promising potential drug target for cystic fibrosis. Their work, published online today in Cell, also uncovers a…
2013
sciencescience-technology
8 July 2007
Science
Researchers from the European Molecular Biology Laboratory (EMBL) and the University of Michigan have discovered a gene that protects us against a serious kidney disease. In the current online issue of Nature Genetics they report that mutations in the gene cause nephronopthisis (NPHP) in humans and…
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