18 May 2017

First study to identify protective effect of glycophorin gene rearrangements on malaria

Researchers have discovered that protection from the most severe form of malaria is linked with natural variation in human red blood cell genes. A study from the Wellcome Trust Sanger Institute, Wellcome Trust Centre for Human Genetics and their collaborators has identified a genetic rearrangement of red blood cell glycophorin receptors that confers a 40 per cent reduced risk from severe malaria.  Published in Science, this opens a new avenue of research for malarial therapeutics.

10 May 2017

Powerful resource created for scientists studying human development and disease 

Reported in Nature, one of the largest sets of high quality human induced pluripotent stem cell lines from healthy individuals has been produced by a consortium involving the Wellcome Trust Sanger Institute.  Comprehensively annotated and available for independent research, the hundreds of stem cell lines are a powerful resource for scientists studying human development and disease.

9 May 2017

Collaboration between Wellcome Trust Sanger Institute and Astex Pharmaceuticals brings together COSMIC (Catalogue of Somatic Mutations In Cancer) and wwPDB (worldwide Protein Data Bank) to visualise genomic and proteomic data on cancer mutations

COSMIC-3D, the most comprehensive system for exploring cancer mutations in three dimensions, is launched today by COSMIC, based at the Wellcome Trust Sanger Institute, in collaboration with Astex Pharmaceuticals, Cambridge, UK. With extensive colourful and helpful visualisations, the new resource can help identify and characterise drug targets as well as support the design of new therapeutics for cancer.

8 May 2017

Head of the Human Genetics Programme recognised with prestigious Fellowship

Dr Matt Hurles, Head of the Human Genetics Programme at the Wellcome Trust Sanger Institute is one of 46 world-leading scientists being honoured for their outstanding contribution to medical science by the Academy of Medical Sciences. Matt joins more than 1,100 existing Fellows whose innovative research has advanced understanding of health and disease and has been translated into benefits for society.

25 Apr 2017

Genetically identical mice develop different smell receptors in response to their environments

Researchers have shown that receptors in the noses of mice exposed to certain smells during life are different to genetically similar mice that lived without those smells. It is this combination of genetics and experience that gives each individual a unique sense of smell.

25 Apr 2017

Scientists have created an innovative technique for studying how chlamydia invades our immune system

13 Apr 2017

Researchers have discovered that mice’s DNA ages in a similar way to humans

Published in Genome Biology, researchers at the Wellcome Trust Sanger Institute, Babraham Institute and the European Bioinformatics Institute reveal that mice have a similar epigenetic ageing clock to humans, providing a great laboratory model to explore how the clock works.

12 Apr 2017

Some people are naturally missing one of their 20,000 genes - and sometimes the results can be beneficial, pointing to new drug therapies

In an international collaboration published in Nature, researchers have identified individuals with natural gene-disrupting mutations - who have a gene that has been "knocked out" -  and systematically studied the biological consequences. The project provides a framework for using naturally-occurring genetic variation to gain vaulable insights into how individual genes affect health and disease.

11 Apr 2017

Turning off the same gene in mice can result in different physical changes, despite similar genetic backgrounds

A large-scale study, published in Wellcome Open Research and which passed peer review today (11 April), has shown that inactivating the same gene in mouse embryos that are virtually genetically identical can result in a wide range of different physical features or abnormalities. This suggests that the relationship between gene mutation and consequence is more complex than previously suspected.

11 Apr 2017

Scientists are using the emerging technology of deep learning to fill in the missing gaps of single-cell genomic analysis

A new ‘deep learning’ method, DeepCpG, has been designed by researchers at the Wellcome Trust Sanger Institute, the European Bioinformatics Institute and the Babraham Institute to help scientists better understand the epigenome – the biochemical activity around the genome. Reported today in Genome Biology, DeepCpG leverages ‘deep neural networks’, a multi-layered machine learning model inspired by the brain, and provides a valuable tool for research into health and disease.