26 Sep 2016

17 rare genetic variants found

Scientists from the Welcome Trust Sanger Institute and their collaborators have discovered 17 rare human genetic variations associated with risk factors for diseases such as heart disease and diabetes. Reported in Nature Genetics, the research shows how large-scale genomic datasets can be used to help identify potential novel biological targets for studying cardiovascular and other diseases.

23 Sep 2016

Sanger Institute Faculty member is recognised for his contribution to bioinformatics 

Sanger Institute Faculty member Richard Durbin was honoured for a lifetime of pioneering research and innovation in the field of bioinformatics with the prestigious International Steven Hoogendijk Award at a ceremony on 23 September 2016.

21 Sep 2016

Evidence found for a single major 'Out of Africa' migration event

16 Sep 2016

Regular updates and exchanges of cancer data in childhood cancer will help both institutions and will be made freely available to researchers worldwide

The Wellcome Trust Sanger Institute is combining the power of COSMIC, its large-scale cancer genetics database, with ProteinPaint data mining and visualization system at St. Jude Children’s Research Hospital in Memphis TN, to support the discovery and understanding of genetic mutations in paediatric cancers.

12 Sep 2016

Two characteristic patterns of DNA damage found

For the first time, researchers from the Wellcome Trust Sanger Institute and their collaborators have been able to identify in human cancers two characteristic patterns of DNA damage caused by ionising radiation. These fingerprint patterns may now enable doctors to identify which tumours have been caused by radiation, and investigate if they should be treated differently.

22 Aug 2016

Two novel African types differ genetically to Western Salmonella Enteritidis

Salmonella Enteritidis is a major cause of blood poisoning and death in Africa and food poisoning in the Western World. The first global-scale genetic study of has discovered that there are in fact three separate types. Two novel African types look the same, but are genetically different from the common Western type.

22 Aug 2016

Oesophageal cancers driven by 'marginal gain' rather than speed

New study finds that unexpectedly, oesophageal cancer cells do not divide faster than their normal neighbours. But unlike normal cells, the tumour cells produce slightly more dividing daughter cells than non-dividing ones, forming a tumour.

1 Aug 2016

The international study sequenced and analysed the protein-coding segments of the genome of 1,900 congenital heart disease patients and their parents

In one of the largest international genetic studies of congenital heart disease (CHD), researchers have discovered gene mutations linked to three new rare congenital heart disorders. Published in Nature Genetics today (1 August), the researchers also found the first clear evidence of genetic differences between two forms of the disease, and that one form can be traced back to healthy parents.

21 Jul 2016

Study explains genetic effect on cognition

Researchers have found a gene responsible for an intellectual disability disorder and proven how it works. Published in the American Journal of Human Genetics, the study details the role of a gene called BCL11A in a new intellectual disability syndrome.

12 Jul 2016

The burden of mutations is comparable to an extra 21 years of sun exposure

Researchers have proved that gene variants associated with red hair, pale skin and freckles are linked to a higher number of genetic mutations in skin cancers. The burden of mutations associated with these variants is comparable to an extra 21 years of sun exposure in people without this variant.