News Archive - 2015

News Archive - 2015

Sharing of genetic data empowers discovery of new disorders in children

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Sharing of genetic data empowers discovery of new disorders in children

Four new genetic disorders identified

The team behind the Deciphering Developmental Disorders (DDD) Study, one of the world's largest nationwide rare disease genome-wide sequencing initiatives, have developed a novel computational approach to identify genetic variants that cause disease in young children. This approach is only made possible by contrasting the DNA of children with severe developmental disorders of unknown genetic cause, with the DNA from individuals without overt developmental disorders. These research participants were drawn from around the globe.

Gene expression: a snapshot of stem cell development

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Gene expression: a snapshot of stem cell development

New genes found that regulate development of stem cells

The power of single-cell genomics is demonstrated in new research from the Wellcome Genome Campus, revealing how it could help scientists understand early development of cells. The study found new genes involved in stem cell regulatory networks and new subpopulations of cells, giving insights into stem cell pluripotency – the ability to develop into almost all different types of cell.

Genes that protect African children from developing malaria identified

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Genes that protect African children from developing malaria identified

New resistance locus lies close to gatekeeper genes involved in malaria invasion of red blood cells

Variations in DNA at a specific location (or 'locus') on the genome that protect African children from developing severe malaria, in some cases nearly halving a child's chance of developing the life-threatening disease, have been identified in the largest genetic association study of malaria to date.

Lessons from Ebola: Better disease surveillance needed

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Lessons from Ebola: Better disease surveillance needed

Technology could help counter risk of next Ebola crisis

The Ebola crisis has highlighted a need to bolster global surveillance and enhance the capability to react appropriately to further outbreaks. Recent developments in technology could enable a swifter, more effective response to potentially deadly outbreaks of disease, a study has found. Disease detection, information sharing and pathogen genome data analysis could all be improved with the coordinated use of existing technology.

10,000 UK genomes project explores the contribution of rare variants to human disease and its risk factors

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10,000 UK genomes project explores the contribution of rare variants to human disease and its risk factors

Landmark study confirms complexity and informs the next stages of research

The largest population genome sequencing effort to date is published today in Nature. A series of papers describing resources and application of the data is published at the same time in Nature, Nature Genetics, Bioinformatics and Nature Communications.

Shigella flexneri persists in environment and switches serotypes

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Shigella flexneri persists in environment and switches serotypes

Clean water, not vaccines, will be most effective against dysentery, genomics reveal

The largest global genomic study of Shigella flexneri, the leading cause of this disease, shows that clear lineages of the bacteria persist within the local environment over many years, a likely clue to the long term success of this pathogen in causing dysentery. This finding, coupled with discovery that the lineages can switch serotype and thereby evade serotype-based vaccines, highlights the importance of achieving the United Nation's Millennium Development Goals for clean water.

Major European study reveals role of genes in disease

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Major European study reveals role of genes in disease

EUMODIC consortium studies functions of over 300 mouse genes

Since mice share over 90 per cent of their genes with humans they represent one of the best organisms to help us understand human genetics. The European Mouse Disease Clinic (EUMODIC), a consortium that includes the Wellcome Trust Sanger Institute, brought together scientists from across Europe to investigate the functions of 320 genes in mice.

Analysis of horse pathogen sheds light on persistent infections

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Analysis of horse pathogen sheds light on persistent infections

Bacteria that lost diversity around WWI provides insight into HIV and TB

In the largest-ever study of the bacteria Streptococcus equi, which causes the disease strangles in horses, researchers were surprised by the genetic similarity of the 224 samples they had procured from horses across the globe.

Inflammatory Bowel Disease (IBD) genetically similar in Europeans and non-Europeans

Inflammatory Bowel Disease (IBD) genetically similar in Europeans and non-Europeans

Trans-ethnic study newly links 38 regions of the genome with risk of Inflammatory Bowel Disease (IBD)

The first genetic study of inflammatory bowel disease (IBD) to include individuals from diverse populations has shown that the regions of the genome underlying the disease are consistent around the world. This study, conducted under the auspices of the International IBD Genetics Consortium, included nearly 10,000 DNA samples from people of East Asian, Indian or Iranian descent and an existing set of 86,640 samples drawn from across Europe, North America and Oceania.

Host-targeted antibodies effective against malaria

Host-targeted antibodies effective against malaria

Treatment that disables blood cell protein wipes out infection in three days

This study targets a protein that the most deadly malaria parasite, Plasmodium falciparum, relies on to invade human red blood cells. Targeting this human protein blocks an essential interaction, and can wipe out an established malaria infection in mice in less than three days.

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