11 Dec 2012

New method to directly sequence small genomes without library preparation

For the first time, researchers sequenced DNA molecules without the need for the standard pre-sequencing workflow known as library preparation

10 Dec 2012

Gene knockout stops immune cell development

Researchers at the Wellcome Trust Sanger Institute have identified the key gene in ensuring that our immune defences develop infection-fighting cells. No cells of the adaptive immune system - key to attacking and destroying bacteria and other pathogens - develop in the absence of the gene Bcl11a.

9 Dec 2012

Researchers track the emergence and global spread of healthcare associated Clostridium difficile

Researchers show that the global epidemic of Clostridium difficile 027/NAP1/BI in the early to mid-2000s was caused by the spread of two different but highly related strains of the bacterium rather than one as was previously thought. The spread and persistence of both epidemics were driven by the acquisition of resistance to a frontline antibiotic.

6 Dec 2012

Researchers produce a catalogue of the deleterious and disease-causing genetic variants in healthy people

Researchers at Cambridge and Cardiff have found that, on average, a normal healthy person carries approximately 400 potentially damaging DNA variants and two variants known to be associated directly with disease traits. They showed that one in ten people studied is expected to develop a genetic disease as a consequence of carrying these variants.

6 Dec 2012

Epigenetics and reprogramming egg and sperm cells

A new study, published on 6 December 2012 in Molecular Cell, is the first genome-wide study to look at what happens to chemical tags that affect DNA activity during early stages of egg and sperm cell development.

5 Dec 2012

Researchers have identified 75 genetic regions that influence red blood cell formation

New research is revealing how red blood cells are made and how the body regulates the amount of haemoglobin that is packaged in red blood cells at any time. Genomic analysis techniques have doubled the number of genetic regions that are likely to be involved in red blood cell formation and subsequent study using fruit flies has given insights into what these regions do.

2 Dec 2012

Largest coronary artery disease study to date identifies many new genetic regions associated with risk of heart attacks

Researchers from the CARDIoGRAMplusC4D Consortium report the identification of 15 genetic regions newly associated with the disease, bringing to 46 the number of regions associated with CAD risk.

29 Nov 2012

Studies in mice confirm that mutations in the gene, UBE3B, cause a rare genetic disorder in children

By using a combination of research in mice and sequencing the DNA of four patients with the disorder, the team showed that disruption of this gene causes symptoms including brain abnormalities and reduced growth, highlighting the power of mouse models for understanding the biology behind rare diseases.

19 Nov 2012

Pig gene discovery could help combat animal and human disease

Insights into the genetic code of pigs that reveal how the species evolved could improve the health of animals in future. Researchers compared the genome of domestic pigs with those of wild boars - from which domestic pigs are descended.

16 Nov 2012

TB's genetic 'family tree' holds the key to tackling outbreaks quickly and effectively

New genetic sequencing techniques can map the 'family tree' of a Tuberculosis (TB) outbreak allowing the spread of disease to be tackled quickly and effectively.