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October 28, 2013

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» Alzheimer’s insight from DNA study

A clearer picture of what causes Alzheimer’s disease is emerging after the largest ever analysis of patients’ DNA, BBC Health news reports today. A massive international collaboration has now doubled the number of genes linked to the dementia to 21. … Continue reading

July 8, 2013

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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

April 15, 2011

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» Genetic link to premature births reported

The BBC health news reports today that a gene linked to premature births has been discovered by scientists in the US and Finland. The researchers hope their study, published in Public Library of Science Genetics, could eventually lead to a … Continue reading

September 27, 2010

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» Migraine cause 'identified' as genetic defect

The BBC website today reports that scientists have identified a genetic defect linked to migraine which could provide a target for new treatments. A flawed gene found in a family of migraine sufferers could help trigger the severe headaches, a study in Nature Medicine suggests. Dr Zameel Cader of the University of Oxford said the discovery was a step forward in understanding why one in five people suffer from migraines.

A migraine is a severe, long-lasting headache usually felt as a throbbing pain at the front or on one side of the head. Some can have a warning visual disturbance, called an aura, before the start of the headache, and many people also have symptoms such as nausea and sensitivity to light during the headache itself. Until now, the genes directly responsible for migraine have been unknown.

In this study, scientists including some from the Medical Research Council’s Functional Genomics Unit at the University of Oxford found a gene known as TRESK was directly attributable as a cause of migraine in some patients. The study found that if the gene does not work properly, environmental factors can more easily trigger pain centres in the brain and cause a severe headache. The international team used DNA samples from families with common migraine to identify the defective gene.

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.”

November 16, 2009

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» Mutant genes 'key to long life'

There is a clear link between living to 100 and inheriting a hyperactive version of an enzyme that prevents cells from ageing, researchers say.

Scientists from the Albert Einstein College of Medicine in the US say centenarian Ashkenazi Jews have this mutant gene.

They found that 86 very old people and their children had higher levels of telomerase which protects the DNA. Telomeres are relatively short sections of specialized DNA that sit at the ends of all our chromosomes. They have been compared to the plastic tips at the ends of shoelaces that prevent the laces from unravelling. Each time a cell divides, its telomeres shorten and the cell becomes more susceptible to dying. Telomerase can repair the telomeres, preventing them from shrinking.

The team at Einstein found that the centenarians and their offspring had higher levels of telomerase and significantly longer telomeres than the unrelated people in the control group and that the trait was strongly heritable.

To read the full article on the BBC health news pages, click here

November 9, 2009

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» Call for tests after sudden death.

The BBC news reports that senior doctors are calling for human tissue to be routinely kept for genetic testing in cases where young people die without explanation. They say the DNA from such samples may reveal an unsuspected inherited condition and save relatives’ lives. One doctor said pathologists should be encouraged to take the tissue and ask for consent later if necessary. But the Human Tissue Authority said it was “alarmed” about public calls for practitioners to break the law. The Human Tissue Act requires that appropriate consent is in place before the tissue is removed from a deceased person.

Dr Mary Sheppard, of the Royal Society of Medicine’s pathology section and a leading expert on Sudden Cardiac Death (SCD), said some coroners did ask relatives already but others felt it was not part of their remit. She said: “If coroners routinely requested consent from the family to retain material for DNA testing at autopsies we would be able to find out far more about how the person died and possibly prevent other deaths in the same family.” She estimates that every year roughly 800 young people under the age of 35, apparently fit and healthy, die suddenly from unsuspected heart disease or without explanation.

The government has recently set up a database operated by the NHS Information Centre to collect reliable data from pathologists on these deaths.

Alison Cox, founder and chief executive of the charity Cardiac Risk in the Young (CRY) said: “In the past two years we have seen the coroners taking huge steps to support families after the tragedy of a young sudden cardiac death.” DNA testing is clearly a potential resource for further information when it is possible to obtain it.”

Inherited heart problems that can cause Sudden Cardiac Death include: Long QT syndrome – a disorder of the electrical activity of the heart; Brugada Syndrome – irregularities of the electrical activity of the heart; Inherited cardiomyopathies or heart muscle diseases.

October 6, 2009

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» DNA sequencing in a holey new way

The BBC Health news pages today report that IBM will announce on Tuesday how it intends to hold DNA molecules in tiny holes in silicon in an effort to decode their genetic secrets letter by letter.

Their microelectronic approach solves one of two long-standing problems in “nanopore” DNA sequencing: how to stop it flying through too quickly.

The aim is to speed up DNA sequencing in a push toward personalised medicine. While sequencing the genomes of humans and animals has become relatively routine in a laboratory setting, the ability to quickly and cheaply sequence genomes of individuals remains out of reach. That widely available genetic information will help bring about the era of “personalised medicine” – in which preventative or therapeutic approaches can be tailored to individuals based on their specific genetic makeup.

August 28, 2009

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» Genetic advance raises IVF hopes

Researchers have found a potential way to correct an inherited disorder affecting thousands of women the BBC health news webpages report this week.

Working on monkeys, they transferred genetic material needed to create a baby from a defective egg to a healthy one, resulting in healthy births. The US work, featured in the journal Nature, raises hopes of a treatment enabling women with defective eggs to have a child without using donor eggs. However, the child would have a small number of genes from a “third parent”. The treatment would involve so-called “germ line” genetic changes which would be passed down through generations. The genetic fault is contained in structures in the egg called the mitochondria, which are involved in maintaining the egg’s internal processes. If an egg with faulty mitochondria is fertilised the resulting child could have any of hundreds of different diseases including anaemia, dementia, hypertension and a range of neurological disorders.

US researchers have previously tried and failed to correct this defect by adding healthy donated mitochondria into the eggs of patients wishing to have children. But these attempts resulted in birth defects – probably because mitochondria are so delicate that they are damaged when they are transplanted from one egg to another. As a result, the treatment was banned by the US until it could be demonstrated that it was safe in animal experiments. A group at the Oregon Health and Science University has now done just that. They transferred the DNA needed to make a baby out of monkey eggs, leaving behind the potentially diseased genes in the mitochondria. This was transplanted it into eggs emptied of DNA but containing healthy mitochondria. The technique resulted in three healthy births with no sign of any birth defects.

Whilst these findings have the potential to benefit many women with pathogenic mitochondrial DNA mutations, they will undoubtedly raise many ethical issues, particularly surrounding egg manipulation

In the UK, the Human Fertilisation and Embryology Authority has licensed a number of tightly-controlled research projects into mitochondrial diseases. But Parliament would have to change the law to allow the technique to be used on patients.