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October 28, 2013

Genomics News
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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

October 26, 2010

Genomics News
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» Paternal health ‘disregarded in breast cancer cases’

The BBC website reports today that women at risk of breast cancer miss out on tests and early diagnosis because their father’s family’s health history is disregarded, a study has suggested. Canadian researchers say in Lancet Oncology that women were more likely to report a history of the disease on their mother’s side. They found women with a maternal cancer history were five times more likely to be referred by family doctors. A UK cancer charity said a father’s history was “often overlooked”.

It is thought that between 5% and 10% of breast and ovarian cancers are the result of a genetic inheritance. This is equally likely to have come from either the father or mother. A significant chunk of this genetic risk is known to come from defects on either the BRCA1 or BRCA2 genes, which make it much more likely that a woman will develop breast or ovarian cancer in her lifetime. If a woman has a strong family history of breast cancer, she can be referred for further testing to see if she has a known gene defect. She can then take steps to reduce the risk, or simply get checked more regularly to catch the cancer early.

Read the full article on the BBC website

The NHS National Genetics Education and Development Centre website has more information and resources on collecting, recording and interpreting family history information.

October is breast cancer awareness month. Read Joy’s real life breast cancer story on the Telling Stories Understanding Real Life Genetics website

April 14, 2010

Genomics News
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» Scientists hail 'revolutionary' kidney gene find

The BBC website today reports the identification of 20 genes which could help explain the causes of kidney disease could one day “revolutionise” treatment, researchers say. Chronic kidney disease affects about one in 10 adults and can require dialysis or even an organ transplant. In the study, published in Nature Genetics, an international team of scientists including researchers at the University of Edinburgh, looked at the genes of nearly 70,000 people across Europe. They found 13 new genes that influence renal function and seven others that affect the production and secretion of creatinine – a chemical waste molecule that is generated from muscle metabolism and filtered through the kidneys.

March 2, 2010

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» Gene test aid to cancer treatment

The BBC website reports that scientists have developed a gene test which predicts how well chemotherapy will work in cancer patients.

Starting with 829 genes in breast cancer cells, the team whittled down the possibilities to six genes which had an impact on whether a drug worked. They then showed that these genes could be used to predict the effectiveness of a drug called paclitaxel in patients. It is hoped the approach, reported in The Lancet Oncology, can be replicated for other cancers and treatments.

More than 45,500 women are diagnosed with breast cancer in the UK each year – and it is estimated that around 15% of these women will be prescribed paclitaxel. The researchers estimate they could potentially spare half of the patients currently receiving this drug from treatment which would not be effective.

January 27, 2010

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» Genes may inform breast cancer treatment

Netdoctor Stories

The discovery of two genes that enable cancer cells to resist some chemotherapy drugs may lead to a new test to help doctors decide the best treatment for individual patients.

Researchers at the Dana-Farber Cancer Institute in Boston analysed the DNA in samples of tissue taken from breast cancer patients. They identified two genes that, when faulty, enable tumour cells to resist a common class of chemotherapy drug called anthracyclines. However, further research revealed that despite their resistance to these drugs, cells with overactive versions of the genes are still vulnerable to other drugs such as cisplatin and paclitaxel.

Lead researcher Dr Andrea Richardson, whose findings are published in the journal Nature Medicine, commented: ‘These results suggest that tumours resistant to anthracyclines may still be sensitive to other agents.

‘So this would be very useful as a test to help pick the therapy that’s going to be most effective for these patients.’

Meg McArthur, a spokeswoman for Breakthrough Breast Cancer, said that the research is ‘important’ for identifying appropriate treatments for individual patients. She noted: ‘These are early, small-scale study results and more research is now needed before the benefits could be seen by patients.’

December 3, 2009

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» Grey hair and genes

The Netdoctor news reports that women who go grey at an early age probably have genes that predispose them to the loss of hair colour, a study in the Public Library of Science One has found.

Researchers at Unilever studied more than 200 twins between the ages of 59 and 81 and compared rates of greying between identical and non-identical siblings. They discovered that identical twin sisters tended to have similar rates of greyness, indicating that the trait is largely caused by genes rather than environmental factors such as stress, diet or smoking.

Senior scientist Dr David Gunn commented: ‘This study offers us a fascinating insight into the reason why women go grey and it certainly suggests that environmental factors are not as important as we once thought.’ The expert revealed that genes also appear to play a role in thinning hair from the top of the forehead in women, whereas thinning on the top of the head is more likely to be caused by environmental factors.

Nina Goad, from the British Association of Dermatologists, told the BBC that in most cases, ‘greying hair is not down to something you have done, but to genetic factors beyond your control’.

November 16, 2009

Genomics News
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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

October 6, 2009

Genomics News
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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.