Solve-RD: supporting rare disease data collection and harmonisation
The Solve-RD project standardises genomic and clinical data across Europe to support rare disease research.
EMBL ANNOUNCEMENTS2025
announcementsembl-announcements
Researchers uncover what drives aggressive bone cancer
Study identifies a novel mechanism driving osteosarcoma and provides insights to help predict patient outcomes.
SCIENCE & TECHNOLOGY2025
research-highlightsscience-technology
DECIPHER v11.29 released
The v11.29 DECIPHER release is out now. Find out about the new features and improvements.
2025
updates-from-data-resources
DECIPHER v11.28 Released
The v11.28 DECIPHER release is out now. Find out about the new features and improvements.
2024
updates-from-data-resources
Vitamin B1’s journey in your body, and why it matters
EMBL Hamburg scientists have gained molecular insights into how we absorb vitamin B1 – a mechanism with implications for disease and drug development.
SCIENCE & TECHNOLOGY2024
science-technology
DECIPHER v11.27 release
The v11.27 DECIPHER release is out now. Find out about the new features and improvements.
2024
updates-from-data-resources
Welcome: Mallory Freeberg
The new Team Leader for Human Genomics at EMBL-EBI shares how curiosity and maths shaped her career and what it takes to be a community builder.
PEOPLE & PERSPECTIVES2024
people-perspectivesperspectives
DECIPHER v11.26 release
The latest DECIPHER release includes AlphaMissense scores, links to the Open Targets Platform and more.
2024
updates-from-data-resources
DECIPHER v11.25 released
The latest DECIPHER update, version 11.25, introduces new key features including the integration of functional data from multiplexed assays of variant effect (MAVEs) and much more.
2024
updates-from-data-resources
DECIPHER v11.24 Released
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
DECIPHER database for rare diseases joins EMBL-EBI
Closer collaborations with EMBL-EBI data resources set to further develop and grow this unique rare disease platform.
EMBL ANNOUNCEMENTS2023
announcementsembl-announcementsscience
Genomic medicine: ushering in a new era in healthcare
EMBL-EBI data resources are being used to deliver thousands of genetic diagnostics to patients every month.
SCIENCE & TECHNOLOGY2023
perspectivessciencescience-technology
Large-scale study enables new insights into rare eye disorders
EMBL-EBI researchers use UK Biobank data to uncover new information about rare diseases of the eye.
2023
research-highlightsscience
Shedding light on rare diseases: open data and model organisms
Why open data from model organisms is essential for rare disease research.
2023
perspectivesscience
EMBL Rome’s Gene Editing and Embryology Facility generates transgenic mice to understand human diseases
The GEEF facility at EMBL Rome supports scientists worldwide with scientific expertise and state-of-the-art gene editing technologies.
LAB MATTERSSCIENCE & TECHNOLOGY2022
lab-mattersscience-technology
Unravelling the origins of the human spine
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.
SCIENCE & TECHNOLOGY2022
sciencescience-technology
A gallery of human RNA polymerases
New structural biology research provides fundamental information critical to understanding enzyme mutations connected to rare diseases and cancers.
SCIENCE & TECHNOLOGY2021
sciencescience-technology
Welcome: Tudor Groza
Tudor Groza joins EMBL-EBI as our new Phenomics Team Lead. We found out from Tudor exactly what this new role will entail
LAB MATTERSPEOPLE & PERSPECTIVES2021
lab-matterspeople-perspectives
Induced pluripotent stem cells reveal causes of disease
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…
SCIENCE & TECHNOLOGY2021
sciencescience-technology
A better look at a human RNA polymerase
New EMBL research shows where & to what degree a component of cellular machinery known as RNA Pol III is mutated and becomes problematic.
SCIENCE & TECHNOLOGY2021
sciencescience-technology
EMBL boosts national and international sharing of genomic data
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.
CONNECTIONSLAB MATTERS2020
connectionslab-matters
EMBL scientists investigate rare lung disease
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…
SCIENCE & TECHNOLOGY2020
sciencescience-technology
Tissue dynamics provide clues to human disease
EMBL scientists examine the molecular causes of a rare hereditary disease of the spine and ribs
SCIENCE & TECHNOLOGY2020
sciencescience-technology
Pinpointing rare disease mutations
New resource that categorises genes essential for supporting life could be used to identify rare disease mutations
SCIENCE & TECHNOLOGY2020
sciencescience-technology
Muscle games
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…
SCIENCE & TECHNOLOGY2019
picture-of-the-weekscience-technology
Facilitating transcontinental human data exchange
Federated data sharing will now be possible on an unprecedented scale
SCIENCE & TECHNOLOGY2019
sciencescience-technology
Using light to stop itch
EMBL researchers have found a way to stop itch with light in mice
SCIENCE & TECHNOLOGY2018
sciencescience-technology
New risk factors for rare childhood cancer
Researchers identify genes that can cause brain tumours in children and other cancers later in life
SCIENCE & TECHNOLOGY2018
sciencescience-technology
ELIXIR accelerates
ELIXIR receives major Horizon 2020 funding to ‘EXCELERATE' activities over the next four years.
LAB MATTERS2015
lab-matters
Potential new drug target for cystic fibrosis
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…
SCIENCE & TECHNOLOGY2013
sciencescience-technology
A gene that protects from kidney disease
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…
SCIENCE & TECHNOLOGY2007
sciencescience-technology
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