University of Glamorgan

The European Society of Human Genetics offers fellowships for next Spring Courses. If you wish to apply for a fellowship, please send your request together with your CV and a reference letter to the following e-mail address: esgm.fellowships@eshg.org

Please quote in the subject the title of the course you wish to attend (see below). ESHG Fellowships cover registration fee (tuition, course material, lunch, coffee break and shuttle bus from the meeting point to the venue and back).

CALENDAR OF SPRING COURSES

1. Course in Genetics and Molecular Pathology of Age Related Neurodegenerative Diseases March 29-31, 2010 – EuroMediterranean University Centre of Ronzano, Bologna (Italy)

2. Course in Mitochondrial Metabolism and Cancer April 20-23, 2010 – EuroMediterranean University Centre of Ronzano, Bologna (Italy)

3. Course in Genomic and Cultural Evolution of Humans May 17-19, 2010 – EuroMediterranean University Centre of Ronzano, Bologna (Italy)

4. 23rd Course in Medical Genetics May 23-28, 2010 – EuroMediterranean University Centre of Ronzano, Bologna (Italy)

5. 6th Course in Statistical Genetic Analysis of Complex Phenotypes June 21-24, 2010 – EuroMediterranean University Centre of Ronzano, Bologna (Italy)

For further info on these residential ESGM 2010 courses please click on the titles above, or visit www.eurogene.org or contact courses@eurogene.org

EXPRESSIONS OF INTEREST FOR LIVE WEBCASTING

They are collecting the expressions of interest of Remote Training Centres which intend to follow via internet the Live version of ESGM courses (in the Hybrid courses format).

Should your Institution be interested in joining our network of Remote Training Centres, please contact giuseppe.curcio@eurogene.org.

Posted by Juping Yu | 0 comments | Tagged with genetics, training

Yu J (2009) Young people of Chinese origin in western countries: a systematic review of their sexual attitudes and behaviour. Health & Social Care in the Community, 18(2):117-128.

Juping is very pleased that one of her papers has just been published in the journal Health and Social Care in the Community. The paper reports on a systematic review of sexual attitudes and behaviour among ethnic Chinese young people living in western countries.

This is GPU’s second publication this week, following Verity’s paper published earlier this week. A good start of GPU’s another productive year, isn’t it?

Posted by Juping Yu | 0 comments | Tagged with chinese, publication, publication, sexual behaviour

Verity Leach is a PhD student at the Genomics Policy Unit. Her first paper entitled “Gender Differences in Attitudes towards Genetic Testing, Risk Interpretation and Genetic Testing Concerns” has just been published in the Journal of Young Investigators. The paper is based on the project carried out for her BSc study at the University of Swansea. The full text of the paper can be found here

Many congratulations. Well done Verity.

Posted by Juping Yu | 6 comments | Tagged with genetics, publication, publication

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.’

Posted by Juping Yu | 0 comments | Tagged with breast cancer, genes

2010 brings in changes and updates to our Telling Stories, Understanding Real Life Genetics website. From today (Monday 18th January 2010) our new web address will be www.tellingstories.nhs.uk

The Telling Stories website continues to be hosted by the NHS National Genetics Education and Development Centre and if you have already bookmarked our website, the original web address will still work (redirecting you to our new homepage).

To find out more about all the latest Telling Stories news and new features including our new stories, new ‘Frequently Asked Questions’ guide, new expert commentaries and new online questionnaire, visit our website and read our latest bulletin and please remember to add Telling Stories to your favourites for 2010!

Posted by Rhian Morgan | 0 comments | Tagged with genetics, Telling Stories, telling stories, website

A recent article in The Times reports on the growing business of personal DNA testing and the safety of our genetic data. Click here to read more.

Posted by Rhian Morgan | 0 comments

BBC News today says that after all the concern over possible damage to health from using mobile phones, scientists have found a potential benefit from radiation.

Their work has been carried out on mice, but it suggests mobiles might protect against Alzheimer’s. Florida scientists found that phone radiation actually protected the memories of mice programmed to get Alzheimer’s disease. They are now testing more frequencies to see if they can get better results.

The study by the Florida Alzheimer’s Disease Research Centre is published in the Journal of Alzheimer’s Disease.

The full story can be found here.

Posted by Juping Yu | 0 comments | Tagged with alzheimer, gene, mice, mobile phone radiation

BBC News reports that an embryo screening test called pre-implantation genetic diagnosis (PGD) is safe for the children of singleton pregnancies, Belgian researchers say.

They looked at 581 children born at one Belgian centre over 13 years who had been screened using the PGD technique. They found that rates of birth defects and deaths were similar to those of children born using other IVF methods. However, significantly more deaths just after or before the birth were seen in multiple pregnancies following PGD.

The findings come after concerns that the PGD screening technique, which involves removing some of the embryo’s cells at an early stage, could lead to problems. But the researchers, writing in the journal Human Reproduction, found no significant difference in birth defect rates when compared to 2,889 children born using IVF but who did not undergo the screening.

More perinatal deaths

In total, 2.13% of PGD children had birth defects compared with 3.38% of the other children. The perinatal death rate – the period immediately before and after birth – was also similar at just over 1% for singleton children in both groups. However, for multiple pregnancies there was a difference. In the PGD group it was 11.73%, whereas among the others it was 2.54%.

Professor Inge Liebaers, head of the centre for medical genetics at the University Hospital Brussels, said:”At present, we don’t have an explanation for why the perinatal death rate (for multiple pregnancies) should be so much higher in the PGD children, and we need to be careful about drawing firm conclusions from these observations as they may be biased due to low numbers.

“There is a need for more careful, thorough and long-term follow-up studies after PGD and the number of cases needs to be expanded.

“The parents-to-be need to be fully informed on the health of offspring.

“Unfortunately, funding for these studies is hard to find.”

In an accompanying editorial, Professor Joe Leigh Simpson, of the Florida International University, said that Professor Liebaers’ study was as good as it gets and showed that: “in experienced hands, removal of one (or more) blastomeres does not result in an increase in birth defects.

“Whatever the controversy concerning efficacy of PGD in increasing pregnancy rates, patients may be informed that PGD is safe.”

Posted by Juping Yu | 0 comments | Tagged with pgd, reproductive choice, testing

Scientists have located the gene that keeps women ‘female’ and could pave the way for the creation of drugs that will delay the menopause. Scientists reported in the journal Cell that only one gene, FoxL2 prevents adult ovary cells from turning into cells found in testes. The FoxL2 gene however, is on an autosomal chromosome, so both males and females have the gene.

FoxL2 represses a DNA element called TESCO, that in turn regulates the expression of the gene Sox9; the testes promoting gene that makes early gonads become testes rather than ovaries. It is now believed that these genes can also perform the same task in adults, therefore FoxL2 is important in keeping Sox9 turned off in ovaries throughout life.

The finding is helping to understand the condition of early menopause and could one day lead to the creation of a drug that could delay the menopause and preserve a woman’s ‘stock of eggs’. It also highlights the fact that sex is not solely determined by X and Y chromosomes. Therefore it could also remove the need for surgery in sex-change operations as this finding creates an ability to turn ovaries into testes.

The full article can be found here

Posted by Verity Leach | 0 comments

The GPU held their final team meeting of the year in festive mood today. Instead of the usual sedate cup of iced water to accompany discussion on projects, curriculum development and so on, we enjoyed more lavish fare, which of course involved Christmas crackers, mince pies and lots of other food. The team had a successful year and look forward to continuing their success in 2010.

Posted by Juping Yu | 2 comments | Tagged with christmas

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.”

Posted by Rhian Morgan | 3 comments | Tagged with chromosome, dna, genetics, genome

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’.

Posted by Juping Yu | 9 comments | Tagged with genes, grey hair

BBC health news reports that scientists have discovered a gene which may help explain the causes of mental illness.

The ABCA13 gene is partially inactive in patients with severe psychological conditions such as schizophrenia, bipolar disorder and depression. It is hoped that identifying genes which make people more likely to develop psychiatric illness may lead to new treatments being developed.

The international team of scientists was led by Edinburgh University. They studied the genes of 2,000 psychiatric patients and compared them with those of 2,000 healthy people. The study suggested that ABCA13 was faulty more frequently in patients with mental illness than in the control group.

Douglas Blackwood, psychiatric genetics professor at Edinburgh University, said: “This is an exciting step forward in our understanding of the underlying causes of some common mental illnesses. These risk genes could signpost new directions for treatments.”

The team believes the gene may influence the way fat molecules are used in brain cells and the research will now focus on exactly how this occurs. The discovery could lead to drugs that restore mental health in patients with psychiatric illness.

Dr Ben Pickard, who was part of the Edinburgh team but now works at the University of Strathclyde, said: “This study is the first to identify multiple points of DNA damage within a single gene that are linked with psychiatric illness.

“It strongly suggests that this gene may regulate an important part of brain function that fails in individuals diagnosed with these devastating disorders. “I think it opens up a whole new area of biology which indicates that these conditions are perhaps related at a fundamental level.”

The Edinburgh University research is in collaboration with scientists at universities in Aberdeen, Queensland and North Carolina. The study took around five years to complete and involved patients from Scotland. The results have been published in the American Journal of Human Genetics.

Posted by Juping Yu | 4 comments | Tagged with gene, mental health

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.”

Posted by Rhian Morgan | 0 comments | Tagged with cancer, gene, genetic, mutation

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

Posted by Rhian Morgan | 6 comments | Tagged with dna, genes, mutant, telomerase, telomere