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February 27, 2014

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» Consultation on mitochondrial donation published by Department of Health

The Department of Health has published a consultation  on draft regulations regarding mitochondrial donation. The consultation seeks the views of stakeholders and the wider public about draft regulations to allow newly developed treatment techniques to prevent the transfer of a … Continue reading

February 17, 2014

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» Computers select personal medicine

BBC health news reports UK-US scientists have given one glimpse of the future of personalised medicine. Using supercomputers, they simulated the shape of a key protein involved in HIV infection in an individual patient and then ranked the drug molecules … 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

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.

April 30, 2010

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» Cascade testing programme for Familial Hypercholesterolaemia initiated across Wales

A cascade testing programme for Familial Hypercholesterolaemia (FH), supported by the British Heart Foundation (BHF) and the Welsh Assembly Government (WAG), is being rolled-out across Wales. The initiative, which was announced by Health Minister Edwina Hart in August 2009, will aim to prevent premature coronary heart disease by diagnosing and treating individuals with FH.

It is estimated that up to 6,000 people in Wales have FH but as many as 4,800 may be unaware they have the potentially life-threatening condition. FH is an inherited condition which causes high levels of cholesterol from birth, and if untreated, leads to coronary heart disease and heart attacks in young adults.

The cascade testing programme will involve health professionals undertaking the screening of family members of those who have been confirmed with having FH after being tested for high cholesterol or heart disease. With lifestyle changes and medication, people with FH can reduce their risk of developing coronary heart disease.

The service is hosted by Cardiff and Vale University Health Board and the recruitment for five new posts (three clinical nurse specialists and two genetic counsellors) to support the programme is now underway. For more information go to the NHS jobs website

To read real life stories from patients, family members and specialist healthcare professionals about how FH can affect everyday lives go to the Telling Stories website and search for familial hypercholesterolaemia.

November 23, 2009

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» Genetic clue to glioma brain cancer growth

Scientists have pinpointed a mutated gene as key to the development of some types of glioma brain tumour report BBC’s health news today. The mutation leads to hugely increased levels of a chemical in the brain, which seems to feed the cancer. The Nature study suggests that detecting higher levels of the chemical could provide doctors with a useful diagnostic tool. It also raises hopes that blocking production of the chemical might prevent the cancer getting worse.

People with particular brain tumours, such as lower-grade gliomas, often carry a mutated version of a gene that controls production of an enzyme called IDH1. The latest study shows that these mutations change the way the enzyme works and result in the build-up of high levels of a chemical called 2-hydroxyglutarate (2HG) in the brain. Researchers found malignant glioma samples with IDH1 mutations had 100 times more 2HG than similar samples from patients without the mutation. They said measuring 2HG levels could be used to help identify patients with IDH1 mutant brain tumours.

Writing in the journal, the researchers said: “This will be important for prognosis as patients with IDH1 mutations live longer than patients with gliomas characterised by other mutations. “In addition, patients with lower-grade gliomas may benefit by the therapeutic inhibition of 2HG production.”

Dr Laura Bell, of the charity Cancer Research UK, said: “This study has brought exciting new information to light which could eventually help doctors understand more about how certain brain tumours are likely to progress – and how best to treat them. “But there is still some way to go before this new information could be used to help treat people with cancer.”

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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» ‘Just Growing Pains’: TV documentary on the genetic condition Marfan syndrome

A short documentary called ‘Just Growing Pains’ will be shown on TV over the coming weeks, which follows the lives of families with the genetic condition Marfan syndrome.

The syndrome is an inherited disorder of the body’s connective tissue which affects the heart, eyes and skeleton in painful, disabling and even mortal ways.

The programme will be broadcast on the Community channel (Sky 539/Virgin TV 233/Freeview 87) on September 15th at 9pm.

For more information on Marfan syndrome, go to the Marfan Trust website.

July 2, 2009

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» Universal embryo test 'very near'

According to today’s BBC news heath webpages, a gene mapping test that can test embryos for almost any inherited disease could be available in the UK within a year. Unlike current tests doctors do not need to know the specific gene mutation involved. At the same time embryos can be tested to check they are generally in good genetic shape. Experts say there will have to be strict limits on what the test can be used for.

The test – which will cost around £2,500 – uses a technique called karyomapping which looks for the inheritance of sections of DNA or chromosomes. Rather than knowing the exact gene mutation which is passed down the generations in an family affected by a condition such as cystic fibrosis, doctors can just look for the block of DNA containing a faulty gene.

At the moment genetic testing of embryos is generally limited to a few conditions. But karyomapping could in theory be used to test for any one of the 15,000 genetic defects known about. Using the same test doctors could also look at whether any chromosomes are missing or duplicated which suggests the embryo will not be viable. It would also be far quicker than current tests, taking only three days instead of weeks or months.

Whilst the this new test could could boost the chance of a couple having a successful pregnancy through IVF as well as a baby free from the condition in question, it is also likey to raise many ethical issues.

Professor Tony Rutherford, chair of the British Fertility Society said the test would be more reliable although admitted such technology was opening a “Pandora’s box”.

“The issue here is we may find out a lot of genetic information and how is that going to be used or stored.” But he said the regulations in the UK on what could be tested for were very strict and would remain so.

“We’re not mad Frankensteins working away in our laboratories to create designer babies. “

“We are only allowed to look for major diseases which cause handicaps.”