News Archive - 2014

News Archive - 2014

Project finds 12 new genetic causes of developmental disorders

Project finds 12 new genetic causes of developmental disorders

Nationwide, genome-wide sequencing provides diagnoses for rare conditions

The first results to emerge from a nationwide project to study the genetic causes of rare developmental disorders have revealed 12 causative genes that have never been identified before.

Fast-changing genes help malaria to hide in the human body

Fast-changing genes help malaria to hide in the human body

Parasite creates millions of new ways to evade immune system every 48 hours

A study of the way malaria parasites behave when they live in human red blood cells has revealed that they can rapidly change the proteins on the surface of their host cells during the course of a single infection in order to hide from the immune system.

Fundamental mechanism for controlling protein function identified

Fundamental mechanism for controlling protein function identified

Study describes mechanism regulating a protein's hairclip shape

Research led by Dr Sarah Teichmann's group on the Wellcome Trust Genome Campus has identified a fundamental mechanism for controlling protein function. Published in the journal Science, the discovery has wide-ranging implications for biotechnology and medicine.

Making single-cell biology work

Making single-cell biology work

New collaboration between EMBL-EBI, the Wellcome Trust Sanger Institute and Fluidigm keeps research and technology on the cutting-edge of single-cell genomics

In addition to technology advancements, the collaboration will make single-cell research more accessible to the greater research community by developing and disseminating new workflows, bioinformatics tools, and data sets.

National project paves way for clinical genetic diagnosis

National project paves way for clinical genetic diagnosis

Thousands to benefit from rare disease diagnosis

The first nationwide project to genetically diagnose rare diseases will pave the way for translating advances in genomics into patient care in the NHS. Deciphering Developmental Disorders (DDD) is working with 12,000 families to diagnose their child's developmental disorder, demonstrating the feasibility and value of introducing large-scale sequencing diagnostics into health care.

Institute cancer diagnostics spin-out secures £12.5 million

Institute cancer diagnostics spin-out secures £12.5 million

14M Genomics given £12.5M to develop cancer tests

Funding will help to build medically useful genomic datasets to guide treatment decisions for oncologists and patients

Genes that cause pancreatic cancer identified by new tool

Genes that cause pancreatic cancer identified by new tool

Screening system in mice spots cancerous changes invisible to sequencing

A technique that can identify causes of cancer invisible to genetic sequencing has uncovered large sets of previously unknown pancreatic cancer genes. It is hoped that this study will boost research into a disease that is still poorly understood and for which five-year survival rates have stood at around 5 per cent for the past four decades.

Study set to shape medical genetics in Africa

Study set to shape medical genetics in Africa

First comprehensive characterisation of genetic diversity in Sub-Saharan Africa published

Researchers from the African Genome Variation Project (AGVP) have published the first attempt to comprehensively characterise genetic diversity across Sub-Saharan Africa. The study of the world's most genetically diverse region will provide an invaluable resource for medical researchers and provides insights into population movements over thousands of years of African history.

Parasitic worm genomes: largest-ever dataset released

Parasitic worm genomes: largest-ever dataset released

New resource boosts research into worms that infect millions

The largest collection of helminth genomic data ever assembled has been published in the new, open-access WormBase-ParaSite. Developed jointly by EMBL-EBI and the Wellcome Trust Sanger Institute, this new resource will be a major asset in the fight against parasitic worms, which infect more than one billion people worldwide.

Brain-dwelling worm in UK man's head sequenced

Brain-dwelling worm in UK man's head sequenced

Tapeworm removed from UK resident's brain reveals genetic secrets of an elusive Far East parasite

For the first time, the genome of a rarely seen tapeworm has been sequenced. The genetic information of this invasive parasite, which lived for four years in a UK resident's brain, offers new opportunities to diagnose and treat this invasive parasite.

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