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Tag:

rare disease

Year
28 April 2022 Microsocopy image of Pair of somites. Blue is a nuclear marker (DAPI) and red is an apical marker (ZO-1).

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

9 December 2021 Colourful interwoven coils are displayed against a grid of small black and white photographic images.

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

24 November 2021 A man standing in front of hedges

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

4 March 2021 An illustration of single-cell RNA sequencing (scRNA-seq)

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

22 May 2020

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

23 July 2019

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

27 May 2015

ELIXIR accelerates

Lab Matters ELIXIR receives major Horizon 2020 funding to ‘EXCELERATE' activities over the next four years.

2015

lab-matters

12 September 2013

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

8 July 2007

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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