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Scientists believe they may have made a "breakthrough" in using gene therapy to treat cancer tumours.

Researchers at Strathclyde University in Glasgow have identified a technique for delivering genes to hard-to-reach tumours without harming healthy tissue.

During lab tests the "seek-and-destroy" therapy resulted in 90% of skin cancer tumours disappearing altogether.

The team is now investigating the technique’s effectiveness at treating different forms of the disease.

At present, most gene therapies cannot be delivered to tumours without harming surrounding healthy tissue.

The Strathclyde-led team investigated ways of doing so with the use of the plasma protein transferrin, which carries iron through the blood.

Carrier proteins for transferrin are often found in large amounts in cancers.

During initial tests on skin cancer cells, it was found that the treatment led to a rapid and sustained regression of the tumours over one month, without any apparent signs of toxicity.

In 90% of cases, the tumours disappeared altogether.

Dr Christine Dufès, a lecturer at the Strathclyde Institute of Pharmacy and Biomedical Sciences, led the research.

"This therapeutic system gave very promising results on cancer treatment in the initial tests we have done," she said.

"To be able to make tumours not just shrink but vanish is a great breakthrough for us, particularly as there’s currently no gene therapy of this kind on the market for intravenous administration.

"We have so far tested this seek-and-destroy system in laboratory settings on just one type of cancer – skin cancer- but are currently investigating its efficacy in different cancer models."

The research has been published in the latest edition of the Journal of Controlled Release.

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A new genetic fault which may account for some cases of inherited deafness has been revealed by Dutch researchers.

It means that parents with the hereditary condition may be able to predict more accurately the chances of passing it on to their children.

The new find, documented in the American Journal of Human Genetics, could even one day contribute to treatments, say the scientists.

One child in 750 is born with severe hearing loss or profound deafness.

The gene in question, labelled PTPRQ, appears to play a role in the development of the inner ear "hair cell" before the birth of the child.

A genetic fault here means that these cells will not form properly or in sufficient numbers, leading to profound deafness or extremely poor hearing.

This can lead to problems throughout childhood, including behavioural and developmental difficulties, and low academic achievement.

Inheritance

The latest gene was tracked down by scientists at Radboud University Nijmegen Medical Centre who looked closely at the DNA of families prone to the condition, looking for shared genetic traits.

There are now more than 60 known locations in our DNA which can contain faulty genes contributing to this form of deafness, although only half the genes in these locations which actually cause the problem are yet to be identified.

Dr Hannie Kremer, who led the research, said: "Our approach is identifying more genes for congenital deafness.

"This knowledge will help improve treatments for patients, genetic counselling, molecular diagnosis and the development of advanced therapeutic strategies."

Dr Sohaila Rastan, chief scientific officer for the deaf and hard of hearing charity RNID, said: "Knowledge of genes causing deafness tells us more about how our hearing works.

"This research will help develop medicines that are desperately needed to prevent deafness and restore hearing."

There are hopes that gene therapy will one day be able to correct genetic defects linked to this type of deafness.

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A gene which hinders the ability of radiotherapy to kill cancer cells has been detected by UK researchers.

The team found that if they blocked the POLQ gene – which has a role in repairing damaged DNA – radiotherapy was more effective.

It is hoped that the discovery, which came about after a trawl through 200 candidate genes, could lead to new drugs to boost radiotherapy.

The findings are published in the journal Cancer Research.

Many thousands of cancer patients will have some form of radiotherapy as part of their treatment, and it is estimated to contribute to 40% of cases where cancer is eliminated.

The researchers from the University of Oxford said tumours can differ widely in the way they respond to radiotherapy – but the reasons for these differences are largely unknown.

In order to find a potential target for increasing the chances that radiotherapy would work, they looked specifically at genes involved in repairing DNA damage.

After pinpointing the POLQ gene, they found that blocking it in several different types of cancer cell in the laboratory, including laryngeal and pancreatic tumours, rendered the cells more vulnerable to the effects of radiation.

Selective

Previous research had shown that the POLQ gene is not particularly active in normal healthy tissue.

Doing the same experiment in healthy cells, the team found that blocking the gene did not have any effect on the sensitivity of normal tissue to radiation.

The researchers said the fact that the POLQ seemed to more abundant in cancer cells than normal cells made it a good target for boosting the effects of radiotherapy.

Study leader Dr Geoff Higgins, a Cancer Research UK scientist at the Gray Institute for Radiation Oncology and Biology, said: "We’ve sieved through a vast pool of promising genetic information and identified a gene that could potentially be targeted by drugs to improve the effectiveness of radiotherapy.

"Blocking the activity of this gene resulted in a greater number of tumour cells dying after radiotherapy and provides new avenues for research."

Professor Gillies McKenna, director of the institute, added: "The next stage is to translate this discovery into a treatment that will benefit patients."

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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.

The international project, including researchers from Cancer Research UK’s London Research Institute, opens the way for breast cancer treatment to be targeted to those who will benefit the most.

To find which genes, if missing or faulty, could prevent the drug from working, they deleted them one by one from cancer cells in the laboratory.

They eventually highlighted the six genes which if absent or not working prevent paclitaxel from properly killing breast cancer cells.

Spare treatment

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.

Study leader, Dr Charles Swanton, head of translational cancer therapeutics at the Institute, said one of the great challenges in cancer medicine is determining which patients will benefit from particular cancer drugs, which are in themselves toxic and carry severe side effects.

"The challenge is to apply these methods to other drugs in cancer medicine"

Dr Charles Swanton, study leader

"Our research shows it is now possible to rapidly pinpoint genes which prevent cancer cells from being destroyed by anti-cancer drugs and use these same genes to predict which patients will benefit from specific types of treatment."

Further studies will now be done to see if the technique can be developed into a simple diagnostic test to be given to patients to help inform doctors about whether or not to prescribe paclitaxel.

He said the challenge will be to apply these methods to other drugs in cancer medicine.

"These could include treatments that are currently deemed too expensive to fund on the NHS – however, in the future, treating only the patients that will benefit from certain treatments will save the NHS money in the long term."

Dr Lesley Walker, Cancer Research UK’s director of cancer information, said: "New techniques such as these can enable drugs to be tailored to individual patients, and this could potentially improve cancer survival in the long term.

"Health professionals may in the future be able to use this information to direct treatment to patients most likely to benefit, and avoid giving treatment that is less likely to be effective to patients with drug resistant cancers."

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DNA differences which appear to affect the risk of giving birth early have been found by US scientists.

The US National Institutes of Health study found the variants in both babies and mothers, a US conference was told.

It is thought they may play a role in controlling immune responses which could theoretically trigger labour if they become too powerful.

Premature birth – which accounts for 7% of UK births – is one of the biggest threats to a baby’s future health.

"The development of a reliable test for identifying these mothers is vital in ensuring our most vulnerable babies have the best possible outcomes"

Andy Cole, Bliss

The causes of premature birth are poorly understood, although infections and other medical complications are blamed in some cases.

The study looked at 700 DNA variants in 190 genes in women who delivered early, and those who carried their baby to term.

The cord blood of the babies was also tested for these variations.

They narrowed the search down to a handful of gene variations found more often in the women who gave birth prematurely, and their babies.

In particular, babies who carried the gene for the "Interleukin 6 receptor" were more likely to be born early.

This was a good candidate gene because Interleukin 6 is produced by cells in response to infection and is involved in inflammation.

High levels of Interleukin 6 in the amniotic fluid and foetal blood have been linked to the onset of premature labour.

Baby threat

Dr Roberto Romero, who led the study, said: "Our hypothesis is that the mother and/or the foetus signal the onset of preterm labour when the environment inside the uterus is unfavourable and threatens the survival of the maternal-foetal pair.

"When there is an infection in the uterus, the onset of premature labour appears to have survival value – it would allow the mother to rid herself of infected tissue and preserve her ability to have future pregnancies."

The chief executive of charity Bliss, Andy Cole, welcomed the study results.

"In England alone, 54,000 babies are born prematurely each year, a third of these for no known reason," he said.

"The development of a reliable test for identifying these mothers is vital in ensuring our most vulnerable babies have the best possible outcomes."

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A small number of extremely overweight people may be missing the same chunk of genetic material, claim UK researchers.

The findings, published in the journal Nature, could offer clues to whether obesity can be "inherited" in some cases.

Imperial College London scientists found dozens of people – all severely obese – who lacked approximately the same 30 genes.

The gene "deletion" could not be found in people of normal weight.

While much of the "obesity epidemic" currently affecting most Western countries has been attributed to a move towards high-calorie foods and more sedentary lifestyles, scientists have found evidence that genes may play a significant role in influencing weight gain in some people.

"It is becoming increasingly clear that for some morbidly obese people, their weight gain has an underlying genetic cause"

Professor Philippe Froguel, Imperial College London

The latest study focused on the "morbidly obese", who have a Body Mass Index (BMI) of more than 40, and who are at the highest risk of health problems.

There are an estimated 700,000 of these people in the UK.

‘Learning difficulties’

The first clue came by looking at a group of teenagers and adults with learning difficulties, who are known to be at higher risk of obesity, although the reasons for this are not entirely clear.

They researchers found 31 people who had nearly identical "deletions" in their genetic code, all of whom had a BMI of over 30, meaning they were obese.

Then a wider scan of the genetic makeup of a mixture of more than 16,000 obese and normal weight people revealed 19 more examples of the missing genes.

All of the people involved were classed as "morbidly obese", with a BMI of over 40, and at the highest risk of health problems related to their weight.

Most of them had been normal weight as toddlers, but then became overweight during later childhood.

None of the people studied with normal weight had the missing code.

The precise function of the missing genes is unclear, as is the precise nature of the relationship between learning difficulties and obesity – none of the people with the deletions in the wider study had learning problems.

Weight-loss surgery

Professor Philippe Froguel, from Imperial College, said: "It is becoming increasingly clear that for some morbidly obese people, their weight gain has an underlying genetic cause.

"If we can identify these individuals through genetic testing, we can then offer them appropriate support and medical interventions, such as the option of weight loss surgery, to improve their long-term health."

Dr Robin Walters, also from Imperial, said that while this particular set of deletions was rare – affecting some seven in 1,000 morbidly obese people – there were likely to be other variations yet to be found.

"The combined effect of several variations of this type could explain much of the genetic risk for severe obesity, which is known to run in families."

Dr Sadaf Farooqi, from Cambridge University, who collaborated with this research, and was involved in similar research published in December which pointed to another gene flaw which could be linked to obesity.

She said it was likely that a "patchwork" of different genetic variations would eventually emerge to explain more cases of obesity – perhaps by affecting appetite, or the rate at which the body burns fat.

She said: "There is still an important public health message about diet and exercise, but simply blaming people for their obesity is no longer appropriate."

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