rare disease

2 April 2024

DECIPHER v11.25 released

Updates from data resources 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.



28 February 2024 DECIPHER logo

DECIPHER v11.24 Released

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.



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

Induced pluripotent stem cells reveal causes of disease

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…



22 May 2020

EMBL scientists investigate rare lung disease

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…



23 July 2019

Muscle games

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…



27 May 2015

ELIXIR accelerates

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



12 September 2013

Potential new drug target for cystic fibrosis

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…



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…



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