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Tag:

mutation

Year
6 May 2022 Drawing of two chromosomes in which a highlighted area is switched around.

Flip-flop genome

Science & Technology Researchers at EMBL Heidelberg found that inversions in the human genome are more common than previously thought, which impacts our understanding of certain genetic diseases.

2022

sciencescience-technology

8 September 2020

Fighting cardiovascular disease with acne drug

Science & Technology Researchers have found the cause of dilated cardiomyopathy – a leading cause of heart failure – and identified a potential treatment for it: a drug already used to treat acne.

2020

sciencescience-technology

27 July 2020 Mosaic of microscopy images of tumour, forming two broken DNA molecules

Artificial intelligence finds patterns of mutations and survival in tumour images

Science & Technology Researchers have developed an artificial intelligence algorithm that uses computer vision to analyse tissue samples from cancer patients. The algorithm can distinguish between healthy and cancerous tissues, and can also identify patterns DNA and RNA changes in tumours.

2020

sciencescience-technology

24 June 2020 Artist's impression of DNA lesions. Credit: Petra Korlevic

Unpicking the complexity of DNA mutations

Science & Technology DNA damage caused by chemical mutagens is not repaired immediately and can create more genetic diversity in tumours.

2020

sciencescience-technology

26 May 2020 Bioinformatic analysis of over 4700 SARS-CoV-2 genomes revealed that many of the most interesting changes in the SARS-CoV-2 genome that have been reported so far are likely to be technical artefacts, rather than biological mutations.

Distinguishing coronavirus genome mutations from inadvertent errors

Science & Technology EMBL scientists have performed a large-scale analysis of over 4700 SARS-CoV-2 genome sequences. They found that many of the most interesting changes in the SARS-CoV-2 genome that have been reported so far are likely to be technical artefacts, rather than biological mutations.

2020

sciencescience-technology

5 February 2020

The Pan-Cancer project

Science & Technology EMBL co-leads most comprehensive study of genetic causes of cancer

2020

sciencescience-technology

12 September 2013

Potential new drug target for cystic fibrosis

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

31 January 2013

The mutation police

Science & Technology Scientists at the EMBL-European Bioinformatics Institute (EMBL-EBI) and the MRC Laboratory of Molecular Biology in the UK have discovered how our genome keeps the effects of mutations in check. The discovery, published in the journal Cell, will help in the study of diseases such as cancer and…

2013

sciencescience-technology

22 April 2012 Abstract image showing DNA code

A matter of priorities

Science & Technology Just as banks store away only the most valuable possessions in the most secure safes, cells prioritise which genes they guard most closely, researchers at the European Molecular Biology Laboratory’s European Bioinformatics Institute (EMBL-EBI) have found. The study, published online today…

2012

sciencescience-technology

19 January 2012 Artist's impression of a chromosome exploding

Rigged to explode?

Science & Technology An inherited mutation in a gene known as the guardian of the genome is likely the link between exploding chromosomes and some particularly aggressive types of cancer, scientists at the European Molecular Biology Laboratory (EMBL), the German Cancer Research Centre (DKFZ) and the University…

2012

sciencescience-technology

2 February 2011

The human genome’s breaking points

A detailed analysis of data from 185 human genomes sequenced in the course of the 1000 Genomes Project, by scientists at the European Molecular Biology Laboratory (EMBL) in Heidelberg, Germany, in collaboration with researchers at the Wellcome Trust Sanger Institute in Cambridge, UK, as well as the…

2011

science

8 April 2008

An unexpected way to cause leukaemia

Leukaemia – cancer of blood or bone marrow – is caused by mutations that allow defective blood cells to accumulate and displace healthy blood. To devise effective therapies it is crucial to know which mutations cause leukaemia and which cell type gives rise to leukaemic cells. Researchers from…

2008

science

8 July 2007

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…

2007

science

25 February 2007

A first glimpse of the influenza replication machine

In 1918, 50 million people died during a worldwide influenza pandemic caused by mutation of a bird-specific strain of the influenza virus. Recently H5N1, another highly infectious avian strain has caused outbreaks of bird flu around the world. There is great concern that this virus might also…

2007

science

6 October 2005

Defusing dangerous mutations

Mutations in genes are the basis of evolution, so we owe our existence to them. Most mutations are harmful, however, because they cause cells to build defective proteins. So cells have evolved quality control mechanisms that recognize and counteract genetic mistakes. Now scientists of the Molecular…

2005

science

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