Contact Information:

Media Contact

Louise Vennells

Twitter: uniofexeter

Kredyty mieszkaniowe Kredyty mieszkaniowe

Sprawdź aktualny ranking najlepszych kredytów mieszkaniowych w Polsce - atrakcyjne kredytowanie nieruchomości. - Press Release Distribution
RSS - Press News Release
Add Press Release

Genomic testing triggers a diabetes diagnosis revolution

Babies with diabetes are now being immediately genetically tested for all possible 22 genetic causes while previously they would only get genetic testing years after diabetes was diagnosed and then the genes would be tested 1 at a time

( Over a 10 year period, the time that babies receive genetic testing after being diagnosed with diabetes has fallen from over four years to under two months. Pinpointing the exact genetic causes of sometimes rare forms of diabetes is revolutionising healthcare for these patients.

Babies with diabetes are now being immediately genetically tested for all possible 22 genetic causes while previously they would only get genetic testing years after diabetes was diagnosed and then the genes would be tested one at a time. Crucially, this means that the genetic diagnosis is made early, giving the doctor information on how best to treat the patient and inform them of the medical problems the patients are likely to develop in the future.

This is a paradigm shift in how genetic testing fits in with the patients' clinical symptoms. In the past symptoms were used to select which gene would be tested - now the early comprehensive gene testing means that the genetic result predicts clinical features that have not yet developed. This new paradigm means doctors can anticipate the likely problems for their patients and put the appropriate care in place to reduce their impact.

The Wellcome Trust and Diabetes UK funded study is published in The Lancet this week by a team led by the University of Exeter Medical School. It reports the results of genetic testing for the 22 known genetic causes of neonatal diabetes in 1,020 patients over the past ten years.

During this 10 year period, the time for genetic testing after diabetes has fallen from over four years to under two months. The rapid referral time reflects the importance of finding the 40% of patients with a mutation in the pancreas potassium channel genes that can improve their glucose control by swapping their insulin injections for sulphonylurea tablets. The other change in this decade is that genetic testing has been revolutionised so that instead of testing one gene at a time now it is possible to test all the genes in a single test.

The study shows how early directly comprehensive genetic testing can greatly inform patient care. This model will be applicable to many other branches of medicine and will benefit from present initiatives like the UK 100,000 genomes project which want to help integrate genome sequencing into clinical care.

Professor Andrew Hattersley, of the University of Exeter Medical School, said: "In the last decade, we have shown that making a precise diagnosis from genetic testing results in improved treatment and hence we now get samples soon after diabetes is diagnosed from patients throughout the world. Now the ability to test all genes in a single test means we are able to accurately inform patients and their doctors - not just about the best treatment but also about likely medical problems before they have started. This means doctors can start to develop treatment to either prevent or improve these problems. In the past, genetics has been used to confirm a diagnosis and that often took years. Now genetics is being used to give an early, precise diagnosis - this changes how healthcare is practised, and will be seen in many areas in medicine in the future."

Professor Sian Ellard, who leads the genetic testing at the University of Exeter Medical School, said: "Our results show the power of genomic medicine to change how clinical care is given. We believe that this is the future for many other rare diseases in all specialities of medicine."

Dr Alasdair Rankin, Diabetes UK Director of Research, said: "It's vital that children with neonatal diabetes get early access to genetic testing, so they can receive the correct treatment as soon as possible. We are proud to have supported this ground breaking work, which has capitalised on recent genetic advances to boost our understanding and make a real difference to the lives of children with this rare condition."

The genetic diagnosis revolution: easing family pain in diabetes

The transformation in the approach to genetic testing over the past 10 years can best be seen in the experiences of the families of babies with diabetes. A genetic diagnosis that guides treatment and gives information on associated medical problems is now usual within days of being diagnosed with diabetes while10 years ago it was typically more than 4 years before a genetic diagnosis was made.

A rapid diagnosis now

The Mulligans, from Belfast in Northern Ireland, recently received a genetic result on then four-month-old baby Matthew within just ten days of taking him into hospital with rash and being found to have high levels of blood sugar. His consultant sent a sample to the world-leading diabetes genetic team at the University of Exeter Medical School. Their swift genetic analysis discovered that Matthew's rare form of neonatal diabetes was caused by a mutation in a single gene the insulin gene, meaning that he was not producing insulin and needed insulin therapy but he will not have problems with his brain or gut unlike many other genetic causes of neonatal diabetes. The team recommended an insulin pump, which gives insulin through a cannula under the skin, so sparing the family the trauma of injecting their baby with insulin doses at mealtimes. Mr Mulligan said: "At first it was horrendous. As a parent, your biggest fear is that your baby is not healthy. With Matthew everything seemed fine. He was thriving - putting on weight and developing well, and the rash was the only sign that there was anything wrong. Taking him to hospital seemed like a precaution. "Finding out he had a permanent form of diabetes felt like the worst thing in the world at the time. He was just so small and having constant insulin injections. His blood sugar levels were really unstable and he was like a pin cushion from all the blood tests. Although we were shocked and devastated that the genetic tests revealed the condition was permanent, it was a relief that the team recommended the insulin pump. By then we'd done our research and we felt that would be the best form of treatment. Having a swift diagnosis from the team at Exeter that was so precise was also extremely helpful. Knowing that it's just one gene that causes Matthew's condition is reassuring, as we know it's not got wider implications. We're also hopeful that one day this research may mean treatments can be more targeted."

A delayed diagnosis in the past

Emma Matthews, son Jack was diagnosed with diabetes in the first week of life 16 years ago and she did not get a diagnosis of the genetic cause until he was 5 years old. In the first 5 years she had to not only cope with injections for his diabetes but also his unexplained difficulty walking and failure to speak. When he was 5 she got a genetic diagnosis of a potassium channel mutation explaining both the diabetes and the developmental delay and showing he could come off insulin and be treated with a sulphonylurea that works on this channel. Emma believes an earlier diagnosis could have made all the difference. Jack, now 15, spoke his first words within weeks of switching from insulin injections to a simple tablet as a result of the diagnosis. Emma, a nurse, said Jack had needed round-the-clock supervision before the switch, saying: "His blood glucose level would go from being stable to being so low that he would collapsed on the floor having a seizure, or in a coma. Every day I woke up believing this could be the day that I found Jack unconscious and I wouldn't be able to wake him up. I'm absolutely convinced that, if it wasn't for the work of the team in Exeter, he would be dead by now."

Although Jack is now far more stable and happy, he has the mental ability of a four-year-old, and Mrs Matthews believes that he could have been spared some of the damage to his brain if he had a genetic diagnosis as a baby, as is now the norm. "Learning difficulties are part of Jack's form of diabetes, but we have met families where the diagnosis came earlier and the impact is much milder."



Dark Energy Survey finds more celestial neighbors

Dark Energy Survey finds more celestial neighbors
Scientists on the Dark Energy Survey, using one of the world's most powerful digital cameras, have discovered eight more faint celestial objects hovering near our Milky Way galaxy. Signs indicate that they, like the objects found by the same team earlier this year, are likely dwarf satellite galaxies, the smallest and closest known form of galaxies. Satellite galaxies are small celestial objects that orbit larger galaxies, such as our own Milky Way. Dwarf galaxies can be found with fewer than 1,000 stars, in contrast to the Milky Way, an average-size galaxy containing ...

How others see our identity depends on moral traits, not memory

We may view our memory as being essential to who we are, but new findings suggest that others consider our moral traits to be the core component of our identity. Data collected from family members of patients suffering from neurodegenerative disease showed that it was changes in moral behavior, not memory loss, that caused loved ones to say that the patient wasn't "the same person" anymore. The findings are published in Psychological Science, a journal of the Association for Psychological Science. "Contrary to what you might think -- and what generations of philosophers ...

How does Febreze work? (video)

How does Febreze work? (video)
WASHINGTON, August 17, 2015 -- Almost all of us have used some type of odor eliminator like Febreze to un-stink a room. These sprays can work wonders, but how do they actually work? Do they really remove the smell or just mask it? We explain the chemistry of odor elimination in this week's Reactions video. Check it out here: Subscribe to the series at, and follow us on Twitter @ACSreactions to be the first to see our latest videos. INFORMATION: The American Chemical Society is a nonprofit organization chartered ...

Charge transport in hybrid silicon solar cells

Charge transport in hybrid silicon solar cells
This news release is available in German. Their results have now been published in the Nature journal Scientific Reports (doi:10.1038/srep13008) and could point the way toward improvements in hybrid solar cells. The system they investigated is based on conventional n-type silicon wafers coated with the highly conductive polymer mixture PEDOT:PSS and displays a power conversion efficiency of about 14 %. This combination of materials is currently extensively investigated by many teams in the research community. "We systematically surveyed the characteristic curves, ...

Frogs exposed to road salt appear to benefit then suffer

Frogs exposed to road salt appear to benefit then suffer
Millions of tons of road salt are applied to streets and highways across the United States each winter to melt ice and snow and make travel safer, but the effects of salt on wildlife are poorly understood. A new study by biologists from Case Western Reserve University suggests exposure to road salt, as it runs off into ponds and wetlands where it can concentrate--especially during March and early April, when frogs are breeding--may increase the size of wood frogs, but also shorten their lives. Wood frog tadpoles exposed to road salt grew larger and turned into ...

On warmer Earth, most of Arctic may remove, not add, methane

In addition to melting icecaps and imperiled wildlife, a significant concern among scientists is that higher Arctic temperatures brought about by climate change could result in the release of massive amounts of carbon locked in the region's frozen soil in the form of carbon dioxide and methane. Arctic permafrost is estimated to contain about a trillion tons of carbon, which would potentially accelerate global warming. Carbon emissions in the form of methane have been of particular concern because on a 100-year scale methane is about 25-times more potent than carbon dioxide ...

Scientists achieve major breakthrough in thin-film magnetism

Magnetism in nanoscale layers only a few tens of atoms thick is one of the foundations of the big data revolution - for example, all the information we download from the internet is stored magnetically on hard disks in server farms dotted across the World. Recent work by a team of scientists working in Singapore, The Netherlands, USA and Ireland, published on 14 August 2015 in the prestigious journal, Science, has uncovered a new twist to the story of thin-film magnetism. The team from the National University of Singapore (NUS) - Mr Li Changjian, a graduate student from ...

What clinicians need to know about bilingual development in children

What clinicians need to know about bilingual development in children
Bilingual children pose unique challenges for clinicians, and, until recently, there was little research on young bilinguals to guide clinical practice. In the past decade, however, research on bilingual development has burgeoned, and the scientific literature now supports several conclusions that should help clinicians as they assess bilingual children and advise their parents. In an article recently published in Seminars in Speech and Language, Erika Hoff, Ph.D., a professor of psychology in the Charles E. Schmidt College of Science at Florida Atlantic University, ...

Can I get some sleep? Hospital tests sound panels to reduce noise

ANN ARBOR, Mich. - One of the most common complaints about hospitals is the noise. Patients complain that they can't sleep soundly in the environment of multiple monitors, paging systems, wheelchairs and gurneys, and carts that squeak. Ongoing efforts at the University of Michigan Health System are making the hospital quieter, and the hospital has tested sound panels designed to dial down noise. During a pilot study, strategically placed sound acoustic panels helped diffuse sound in the hallways around patient rooms. The modest 3-4 sound decibel drop is recognizable ...

Danish breakthrough brings futuristic electronics a step nearer

Danish breakthrough brings futuristic electronics a step nearer
When researchers dream about electronics of the future, they more or less dream of pouring liquids into a beaker, stirring them together and decanting a computer out onto the table. This field of research is known as self-assembling molecular electronics. But, getting chemical substances to self-assemble into electronic components is just as complicated as it sounds. Now, a group of researchers has published their breakthrough within the field. The group consists of first-year nanoscience students from the University of Copenhagen. Thomas Just Sørensen, an associate ...


How your brain decides blame and punishment -- and how it can be changed

Uniquely human brain region enables punishment decisions

Pinpointing punishment

Chapman University publishes research on attractiveness and mating

E-cigarettes: Special issue from Nicotine & Tobacco Research

Placental problems in early pregnancy associated with 5-fold increased risk of OB & fetal disorders

UT study: Invasive brood parasites a threat to native bird species

Criminals acquire guns through social connections

Restoring ocean health

Report: Cancer remains leading cause of death in US Hispanics

Twin study suggests genetic factors contribute to insomnia in adults

To be fragrant or not: Why do some male hairstreak butterflies lack scent organs?

International team discovers natural defense against HIV

Bolivian biodiversity observatory takes its first steps

Choice of college major influences lifetime earnings more than simply getting a degree

Dominant strain of drug-resistant MRSA decreases in hospitals, but persists in community

Synthetic biology needs robust safety mechanisms before real world application

US defense agencies increase investment in federal synthetic biology research

Robots help to map England's only deep-water Marine Conservation Zone

Mayo researchers identify protein -- may predict who will respond to PD-1 immunotherapy for melanoma

How much water do US fracking operations really use?

New approach to mammograms could improve reliability

The influence of citizen science grows despite some resistance

Unlocking secrets of how fossils form

What happens on the molecular level when smog gets into the lungs?

Using ultrasound to clean medical instruments

Platinum and iron oxide working together get the job done

Tiny silica particles could be used to repair damaged teeth, research shows

A quantum lab for everyone

No way? Charity's logo may influence perception of food in package

[] Genomic testing triggers a diabetes diagnosis revolution
Babies with diabetes are now being immediately genetically tested for all possible 22 genetic causes while previously they would only get genetic testing years after diabetes was diagnosed and then the genes would be tested 1 at a time is a service of DragonFly Company. All Rights Reserved.
Issuers of news releases are solely responsible for the accuracy of their content.