DECIPHER database for rare diseases joins EMBL-EBI
Announcements, Science Closer collaborations with EMBL-EBI data resources set to further develop and grow this unique rare disease platform.
2023
announcementsscience
Genomic medicine: ushering in a new era in healthcare
Perspectives, Science EMBL-EBI data resources are being used to deliver thousands of genetic diagnostics to patients every month.
2023
perspectivesscience
Large-scale study enables new insights into rare eye disorders
Research highlights, Science 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
Perspectives, Science 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
Lab Matters The GEEF facility at EMBL Rome supports scientists worldwide with scientific expertise and state-of-the-art gene editing technologies.
2022
lab-matters
Unravelling the origins of the human spine
Science 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
science
A gallery of human RNA polymerases
Science New structural biology research provides fundamental information critical to understanding enzyme mutations connected to rare diseases and cancers.
2021
science
Welcome: Tudor Groza
Lab Matters 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-matters
Induced pluripotent stem cells reveal causes of disease
Science 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
science
A better look at a human RNA polymerase
Science New EMBL research shows where & to what degree a component of cellular machinery known as RNA Pol III is mutated and becomes problematic.
2021
science
EMBL boosts national and international sharing of genomic data
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
lab-matters
EMBL scientists investigate rare lung disease
Science 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
science
Tissue dynamics provide clues to human disease
Science EMBL scientists examine the molecular causes of a rare hereditary disease of the spine and ribs
2020
science
Pinpointing rare disease mutations
Science New resource that categorises genes essential for supporting life could be used to identify rare disease mutations
2020
science
Muscle games
Picture of the week 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-week
Facilitating transcontinental human data exchange
Science Federated data sharing will now be possible on an unprecedented scale
2019
science
Using light to stop itch
Science EMBL researchers have found a way to stop itch with light in mice
2018
science
New risk factors for rare childhood cancer
Science Researchers identify genes that can cause brain tumours in children and other cancers later in life
2018
science
ELIXIR accelerates
Lab Matters ELIXIR receives major Horizon 2020 funding to ‘EXCELERATE' activities over the next four years.
2015
lab-matters
Potential new drug target for cystic fibrosis
Science 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
science
A gene that protects from kidney disease
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…
2007
science
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