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July 8, 2013

Genomics News
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» Genomics England launched, mapping DNA to better understand cancer, rare and infectious diseases

To coincide with the announcement of plans to make the NHS a personal service for every patient to mark the 65th birthday of the NHS on Friday 5th July 2013, Genomics England was launched by the Department of Health (DH) … Continue reading

December 11, 2012

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» DNA mapping for cancer and rare disease patients

BBC health news has reported that up to 100,000 patients with cancer and rare diseases in England are to have their entire genetic code sequenced. The Prime Minister will announce £100m has been set aside for the project over the … Continue reading

December 7, 2009

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» Genetics of obesity.

BBC health news today reports that scientists have discovered what they believe is a genetic cause of severe obesity in children. The team concluded that the loss of a key segment of DNA can be to blame.

The study, of 300 children with severe obesity by the University of Cambridge, the Wellcome Trust Sanger Institute, Children’s Centre, and St Mary’s Hospital Manchester, appears in Nature

Some of the children in the study had been formally placed on the social services ‘at risk’ register on the assumption that their parents were deliberately overfeeding them. They have now been removed from the register. Obesity is increasing throughout the world and is recognised as a major global public health concern. Although much of the problem is due to lifestyle factors such as an unhealthy diet, and lack of exercise, some cases are thought to be down to genetics.

The latest study examined each child’s entire genome, looking for deletions or duplications of DNA, known as copy number variants (CNVs). Experts increasingly believe these CNVs play an important role in genetic disease. By comparing the DNA profile of obese children with others of a normal weight they found certain parts of the genome were missing in the obese group. In particular they zeroed in on a missing part of chromosome 16 which seemed to have a strong link to severe obesity. Researcher Dr Sadaf Farooqi said: “Our results suggest that one particular gene on chromosome 16 called SH2B1 plays a key role in regulating weight and also in handling blood sugar levels. “People with deletions involving this gene had a strong drive to eat and gained weight very easily. “It adds to the growing weight of evidence that a wide range of genetic variants can produce a strong drive to eat. “We hope that this will alter attitudes and practices amongst those with professional responsibility for the health and well-being of children.”

Dr Matt Hurles, who also worked on the study, said: “This is the first evidence that copy number variants have been linked to a metabolic condition such as obesity.”They are already known to cause other disorders such as autism and learning difficulties.”

August 14, 2009

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» Cancer gene complexity revealed

Recent news from the BBC website reports that scientists have shown just how mind-bogglingly complex are the genetics underpinning the development of cancer . For the second time, a team from Washington University has decoded the complete DNA of a patient with a form of leukaemia. The study, which is published in the New England Journal of Medicine, shows that the suite of key genetic mutations they found were completely different from those uncovered following analysis of their first patient last year. The latest study does reveal some potentially significant findings. One of the new mutations found in the second patient was also found in samples taken from 15 other patients with the same disease, acute myeloid leukaemia (AML). The same mutation is also thought to play a role in the development of a type of brain tumour called a glioma. A second new mutation was also found in another AML patient. By using a state-of-art gene sequencing technique, the Washington team became the first to decode the entire genome of a cancer patient last year. Once they have the full menu of DNA from cancer cells, the researchers can compare it with DNA from healthy cells to pinpoint genetic mutations which probably play a key role in the development of the disease. The hope is that armed with this information, scientists will be able to develop new drugs to target cancer.