A new method of measuring blood glucose levels in people with diabetes is a significant advance in the management of the disease, according to an independent assessment by University of Manchester, 91Ö±²¥ University NHS Foundation Trust and Derby Teaching Hospitals experts.

The FreeStyle Libre flash glucose monitor has been available on prescription in the United Kingdom from November 2017.

It works through a white disc adhered to the arm which connects remotely to a small monitoring device.

It is designed to replace the recommended 4-10 painful finger-stick blood glucose tests required each day for the self-management of diabetes.

The disc is replaced every 14 days and can also be purchased by people with diabetes.

Type 1 Diabetes can occur at any age but typically presents in childhood and requires lifelong insulin therapy. Type 2 diabetes is usually diagnosed in people over 30-year-old and is initially treated without medication or with lifestyle modification and/or tablets.

People with Type 1 Diabetes should measure their blood glucose many times a day so they are able to adjust their insulin dose.

Having a blood glucose which is too high increases the risk of diabetes complications such as eye disease, foot ulcers and kidney disease.

Glucose levels which are too low can make the person with diabetes feel unwell and unable to function. If left untreated, low glucose can cause coma and seizures.

Dr Lalantha Leelarathna, is a researcher from The University of Manchester and a Consultant Diabetologist at 91Ö±²¥ Royal Infirmary, 91Ö±²¥ University NHS Foundation Trust.

He said: “Despite major progress in the care of people living with Type 1 diabetes, many fail to achieve their target blood sugar level – and that risks major complications.

“A key barrier in achieving near normal glucose levels is this need for frequent fingerstick blood glucose monitoring and that’s down to pain and inconvenience.

“Our review concludes that The FreeStyle Libre flash glucose monitor works well for both adults and children.

“The studies show it is accurate, comfortable and easy to use. It is associated with a reduction in low blood sugar levels, improvements in glycated haemoglobin levels and adverse events are low.

“Our assessment of the available evidence shows that for most patients, it is a game changer.”

Dr Emma Wilmot from Derby Teaching Hospitals said: “From our perspective, the FreeStyle Libre is a significant advance in the management of diabetes. Many users describe it as ‘life changing’.

‘The challenge in the UK is to now ensure that it reaches people living with diabetes. We are delighted that this device became available on the NHS drug tariff in November 2017.

“However, it is clear from the Diabetes UK map of access that this does not necessarily mean that it will make it into the hands of those who might benefit:

‘The development of a postcode lottery for access would further add to the variation in diabetes care across the country and may adversely impact on outcomes.’

The Diabetes UK map of access is available 

The paper, , is published in Diabetic Medicine

Scientists have successfully produced human kidney tissue within a living organism which is able to produce urine, a first for medical science.

The study led by Professors and from The University of Manchester, signifies a significant milestone in the development of treatment for kidney disease.

The and funded project is published in the journal

Kidney glomeruli - constituent microscopic parts of the organ- were generated from human embryonic stem cells grown in plastic laboratory culture dishes containing a nutrient broth known as culture medium, containing molecules to promote kidney development.

They were combined with a gel like substance, which acted as natural connective tissue - and then injected as a tiny clump under the skin of mice.

After three months, an examination of the tissue revealed that nephrons: the microscopic structural and functional units of the kidney - had formed.

The new structures contained most of the constituent parts present in human nephrons - including proximal tubules, distal tubules, Bowman’s capsule and Loop of Henle.

Tiny human blood vessels – known as capillaries- had developed inside the mice which nourished the new kidney structures.

However, the mini-kidneys lack a large artery, and without that the organ’s function will only be a fraction of normal.

So, the researchers are working with surgeons to put in an artery that will bring more blood the new kidney.

To test the functionality of the new structures, the team used Dextran - a fluorescent protein which stains the urine-like substance produced when nephrons filter the blood, called glomerular filtrate.

The Dextran was tracked and detected in the new structures’ tubules, demonstrating that filtrate was indeed being produced and excreted as urine.

“We have proved beyond any doubt these structures function as kidney cells by filtering blood and producing urine - though we can’t yet say what percentage of function exists,” said Professor Kimber.

“What is particularly exciting is that the structures are made of human cells which developed an excellent capillary blood supply, becoming linked to the vasculature of the mouse.

“Though this structure was formed from several hundred glomeruli, and humans have about a million in their kidneys - this is clearly a major advance.

“It constitutes a proof of principle- but much work is yet to be done.”

The University of Manchester’s School of Biological Sciences and 91Ö±²¥ Regenerative Medicine Network (MaRM) as well as Kidneys for life have also supported the work.

Professor Woolf, who is also Consultant in Paediatric Nephrology at Royal 91Ö±²¥ Children’s Hospital, 91Ö±²¥ University NHS Foundation Trust, said: “Worldwide, two million people are being treated with dialysis or transplantation for kidney failure, and sadly another two million die each year, unable to access these treatments.

"So we are tremendously excited by this discovery - we feel it is a big research milestone which may one day help patients.

“However, there is much more to learn: Building on our generation of kidney filtration units we must now turn to developing an exit route for the urine and a way to deliver this technology to diseased kidneys.

"The work was also helped by a small grant from the hospital’s local kidney charity called “Kidneys for Life”.

The team are the UK’s only recipient of a three year Stoneygate Research award from Kidney Research UK.

The research will allow them to model kidney diseases using the new structures.

The full paper '', is published in Stem Cell Reports.

An international team of scientists and doctors has identified a family of five new genetic diseases which are likely to affect more than 1 in 5000 children.

The discovery of the diseases, which cause combinations of developmental delay, and problems with growth, heart, kidney and other organs, has important implication on diagnosis and treatment.

The study, led by from The University of Manchester and the Saint Mary's Hospital, is published in the reputed American Journal of Human Genetics.

The diseases are the result of abnormalities in genes dedicated to regulating the processes that control DNA modifications and gene expression – known as master regulators.

A hundred patients mostly in the UK -have already been identified with the diseases – coined by the team as histone lysine methylation disorders.

Though there are no epidemiological studies, the team believe at least 1 in every 5,000 children are affected.

Dr Victor Faundes, a PhD student in Dr Banka’s lab studied genetic variants in a group of master regulators called 'histone lysine methylases and demethylases or KMTs and KDMs.

He compared the genetic variants in KMTs and KDMs in children with developmental problems and the general population.

He said: “I found that some specific types of genetic changes that interfere with function of some KMTs and KDMs were commoner in children who had problems with development of their brains or other organs.

“These results tell us that KMT and KDM mutations explain the diagnosis in a disproportionately large number of children with developmental disorders.

“This is an important discovery because we already know that some drugs can control the activity of KMTs and KDMs and thus could be potential treatments for these conditions.”

Dr Banka said: “This is very exciting because in addition to giving an idea of the scale of the problem, this has also enabled us to identify five new genetic disorders.

“Our findings have helped in providing diagnoses in children in whom the underlying cause for their medical condition was previously a mystery”.

He added: “We are now planning more detailed studies to understand the biological link between the mutations and the clinical problems.

“And we are also trying to identify more patients with these disorders that will help in revealing the full clinical spectrum of these conditions.”

Doctors and scientists are unable to deal with individual enquires from the public. However, patients should in the first instance contact their GP who may refer them on to a local geneticist.

Journalists who wish to see a copy of the journal article should contact the American journal of human genetics directly on jcaputo@cell.com or press@cell.com The paper is available

Figure : Histones are proteins that are in contact with DNA, and they help to fold or unfold the DNA in order to regulate gene expression. The fold/unfold state depends on chemical modifications of histone tails such as methylation or demethylation. These modifications are carried out by KMT and KDM.

A team of researchers from the and University of Manchester have uncovered new insights into a rare genetic disease, with less than 500 cases of the disease on record, which devastates the lives of children.

Chediak-Higashi syndrome (CHS) is a complex disease, exhibiting very diversified symptoms, including predisposition to bleeding, a wide range of neurological issues, and dysregulated immune responses so that they are unable to fight infections which would normally be easily dealt with.

Unfortunately, in the majority of cases, people with CHS develop a severe and fatal hyperinflammatory condition. One feature of CHS patient’s is that a population of white blood cells, known as Natural Killer (NK) cells are unable to function properly.

Normally, ‘NK cells’ recognize and kill aberrant cells, like cancer cells or virus-infected cells, by secreting bags of toxic enzymes, called lytic granules, into the diseased cells. However, this does not happen in the case of CHS; people with CHS have larger-than-usual bags of these enzymes which then cannot exit the immune cell properly.

The team – which includes from The University of Manchester – found that the defects in in CHS immune cells are related to a mechanical barrier, the cell’s cytoskeleton, which seems to prevent the immune cells’ ability to kill diseased cells.

In order to uncover the underlying cause for the defective function of NK cells in CHS, they generated a human cell line model of the disease, using modern gene editing techniques.

With the model and super-resolution microscopy, they demonstrated that CHS NK cells have the ability to respond normally to different stimuli, but can’t secrete their lytic granules, because they are simply too big to pass through the barrier of the cell’s cytoskeleton.

Professor Davis said: “My research team and I have been using microscopes to watch how immune cells kill diseased cells for many years. From what we and others have learnt, we can now see how medicines might be able aid the process. Working with researchers at the NIH, we found that the activity of CHS NK cells could be partially restored with drugs that open up an internal barrier in cells, the cell’s cytoskeleton.

“The problem was that the meshwork of actin protein that underlines the cell membrane is too dense to allow these giant lytic granules out of the cell, resulting in defective CHS NK cell function.

“Importantly, we found that decreasing the actin density, or the size of lytic granules, restores the ability of CHS NK cells to kill target cells.

“Thus, restoration of white blood cell function in CHS could be possible, and a major factor limiting the release of enlarged lytic granules could be a novel target for drug development.”

Davis added: “Our findings provide a new and important insight into pathology of this rare genetic disease.

“Broader than this, this is one example of how immunologists are beginning to harness the power of the immune system to tackle all sorts of diseases, from cancer to autoimmune disease.

“Restoring the function of white blood cells in CHS might have an important impact for the patients’ welfare, as it could extend the period of time CHS patients can wait for a bone marrow transplant that is now the only way to prevent the development of a fatal hyperinflammatory condition that occurs in many people with CHS.”

The researchers’ findings suggest the potential to negate this problem and restore proper immune cell function. The research is published in the Journal of Allergy and Clinical Immunology.

Professor Davis is author of popular level books about the immune system, ‘The Compatibility Gene’ and the forthcoming ‘The Beautiful Cure’.

He is Director for Research at the University’s , which also announces today £2m of investment from GlaxoSmithKline.

The MCCIR, established in 2012, is unique collaboration which has established a world-leading translational centre for inflammatory diseases. It employs 86 scientists and a cumulative grant research budget of £43M.

The cash will fund 11 additional projects in PhD and postdoctoral level in the areas COPD, kidney injury, asthma, IBD, complement function and super-resolution microscopy

Professor Tracy Hussell, Director, MCCIR said: “Industry has a pivotal role to play in discovery science and it is crucial that we share early stage research ideas and tools to enable us to tackle new ideas and approaches that could benefit all.

“This reinvestment by GSK is an endorsement of that philosophy and since our collaboration, we have won a significant amount of competitive peer reviewed funding.”

Malcolm Skingle, Director of Academic Liaison, GSK said: “Collaboration with academic researchers is vital to progress scientific understanding and enable development of innovative new medicines.

“We are delighted to continue to support UK based research efforts through our continued collaboration with the MCCIR academic scientists’.”

The paper An actin cytoskeletal barrier inhibits lytic granule release from Natural Killer cells in Chediak-Higashi syndrome is published in the

An international team of scientists have confirmed the discovery of a major cause of dementia, with important implications for possible treatment and diagnosis.

from The University of Manchester, who leads the 91Ö±²¥ team, says the build-up of urea in the brain to toxic levels can cause brain damage – and eventually dementia.

The work follows on from Professor Cooper’s earlier studies, which identified metabolic linkages between Huntington’s, other neurodegenerative diseases and type-2 diabetes.

The team consists of scientists from The University of Manchester, the University of Auckland, AgResearch New Zealand, the South Australian Research and Development Institute, Massachusetts General Hospital and Harvard University.

The latest paper by the scientists, published today in the , shows that Huntington’s Disease - one of seven major types of age-related dementia - is directly linked to brain urea levels and metabolic processes.

Their 2016 study revealing that urea is similarly linked to Alzheimer’s, shows, according to Professor Cooper, that the discovery could be relevant to all types of age-related dementias.

The Huntington’s study also showed that the high urea levels occurred before dementia sets in, which could help doctors to one day diagnose and even treat dementia, well in advance of its onset.

Urea and ammonia in the brain are metabolic breakdown products of protein. Urea is more commonly known as a compound which is excreted from the body in urine. If urea and ammonia build up in the body because the kidneys are unable to eliminate them, for example, serious symptoms can result.

Professor Cooper, who is based at The University of Manchester’s , said: “This study on Huntington’s Disease is the final piece of the jigsaw which leads us to conclude that high brain urea plays a pivotal role in dementia.

“Alzheimer’s and Huntington’s are at opposite ends of the dementia spectrum – so if this holds true for these types, then I believe it is highly likely it will hold true for all the major age-related dementias.

“More research, however, is needed to discover the source of the elevated urea in HD, particularly concerning the potential involvement of ammonia and a systemic metabolic defect.

“This could have profound implications for our fundamental understanding of the molecular basis of dementia, and its treatability, including the potential use of therapies already in use for disorders with systemic urea phenotypes.”

Dementia results in a progressive and irreversible loss of nerve cells and brain functioning, causing loss of memory and cognitive impairments affecting the ability to learn. Currently, there is no cure.

The team used human brains, donated by families for medical research, as well as transgenic sheep in Australia.

91Ö±²¥ members of the team used cutting-edge gas chromatography mass spectrometry to measure brain urea levels. For levels to be toxic urea must rise 4-fold or higher than in the normal brain says Professor Cooper.

He added: “We already know Huntington’s Disease is an illness caused by a faulty gene in our DNA - but until now we didn’t understand how that causes brain damage – so we feel this is an important milestone.

“Doctors already use medicines to tackle high levels of ammonia in other parts of the body Lactulose - a commonly used laxative, for example, traps ammonia in the gut. So it is conceivable that one day, a commonly used drug may be able to stop dementia from progressing. It might even be shown that treating this metabolic state in the brain may help in the regeneration of tissue, thus giving a tantalising hint that reversal of dementia may one day be possible.”

Professor Cooper expresses his thanks to all the families of patients with Huntington's disease in New Zealand who so generously supported this research through the donation of brain tissue to the Neurological Foundation of New Zealand Douglas Human Brain Bank in the Centre for Brain Research.

This work was supported by the CHDI Foundation (A-8247) and Brain Research New Zealand.

The paper ‘Brain urea increase is an early Huntington’s disease pathogenic event observed in a prodromal transgenic sheep model and HD cases’ is available on request

Other 91Ö±²¥-based scientists who made important contributions are Dr Stefano Patassini and Dr Jingshu Xu.

Relevant papers include:

• . Biochimica et Biophysica Acta (2016)
• . Biochemical and Biophysical Research Communications (2015)
• . Biochimica et Biophysica Acta (2016)
• . Scientific Reports (2016)
• . Metallomics. (2017)
• . Journal of Huntington’s Disease (2013)
• . Proteomics (2001)

Anyone with queries about Alzheimers should contact The Alzheimer’s Research Society on 0300 111 5555 or visit 

Anyone with queries about Huntington’s Disease should contact The Huntington’s Disease Association on 0151 331 5444 or visit 

An international team of scientists and doctors has identified a new disease that results in low levels of a common protein found inside our cells.

The study, led by from The University of Manchester and the 91Ö±²¥ Centre for Genomic Medicine, St Mary's Hospital, is published in the reputed

β-actin is the cell’s most abundant protein, providing shape and allowing them to move. It is fundamental to a number of biological functions.

The team say the new disease is caused by gene mutations which result in half of the normal β-actin levels.

Dr Sara Cuvertino, a Research Associate at The University of Manchester and first author of the paper, said: “β-actin is so vital to our cells that it was very surprising for me that patients could still survive on just half the normal levels of this critical protein”.

Dr Banka said, “Although patients born with these mutations have developmental delay, heart and kidney abnormalities, it is remarkable that several are leading a reasonably healthy life.

“Some affected individuals also have neurological problems such as epilepsy.”

Dr Cuvertino studied the cells of patients affected with this new disease and found several subtle defects such as unusual shape, reduced capacity to move and divide.

“The β-actin of a worm is very similar to the human protein. This remarkable conservation across millions of years of evolution reflects the importance of this protein for life,” said Dr Cuvertino.

Dr Banka added “In our study we have described 33 patients, which is a large number for a first paper on a rare genetic disease. I am sure that this discovery will lead to identification of more patients from across the world, who have not yet been diagnosed.”

Dr Cuvertino said, “Our studies of patient cells have provided some very interesting clues to the underlying mechanism of the disease that may provide a foundation for developing treatments”.

Dr Banka’s group is now studying how reduction in β-actin causes the disease with a goal to develop possible treatments for these patients.

The doctors and scientists is unable to deal; with individual enquires from the public. However, patients should in the first instance contact their GP who may refer them on to a local geneticist.

Journalist who wish to see a copy of the journal article should contact the American journal of human genetics directly on jcaputo@cell.com or press@cell.com

The University of Manchester is part of a national consortium which has been awarded a £1.7 million grant to create the world’s largest Immune-Mediated Inflammatory Disease (IMID) Biobank, in excess of 40,000 patients.

The Medical Research Council (MRC) funded project will be delivered by the IMIDBio-UK consortium, which brings together researchers from the University of Glasgow, Newcastle University, the University of Cambridge, Queen Mary University of London and the University of Manchester.

The biobank will enable more precise treatment of immune-mediated inflammatory diseases, common medical conditions that cause substantial pain, distress, loss of function and early death. They include rheumatoid arthritis (RA), psoriasis, systemic lupus erythematosus (SLE), Sjogren's syndrome and autoimmune hepatitis. 

Led by Professor Iain McInnes, Director of the University of Glasgow’s Institute of Infection, Immunity and Inflammation, the IMIDBio-UK project will incorporate MRC, National Institute for Health Research and Scottish Government Chief Scientist  funded biobanks and clinical datasets into one single, searchable and analysable ‘superhighway’, allowing unprecedented access to information about IMIDs across the UK.

The University of Manchester will provide expertise on inflammation medicine particularly with respect to inflammatory skin and joint disease. It also hosts the 91Ö±²¥ Molecular Pathology Innovation Centre which facilitates the translation of personalised medicine research into usable tests that can be implemented within the NHS (a remit reliant on access to high quality patient samples).

Professor Chris Griffiths, University of Manchester, Foundation Professor of Dermatology and IMIDBio-UK Co-Investigator, said: “The formation of IMID-Bio UK is an important first step in uniting the UK’s resources and expertise in personalised care for inflammatory disease. The 91Ö±²¥ team is delighted to be part of this consortium and the opportunities it will provide to enhance patient care.”

This superhighway of information will provide the kind of large scale data needed to apply a precision medicine approach to these health conditions. Researchers hope that it will soon be possible to create a 'molecular map' of a patient, which would ultimately allow doctors to be able to prescribe more effective, less toxic drugs to patients, based on their individual condition.

Professor Iain McInnes, Muirhead Chair of Medicine, said: “IMIDBio-UK is a unique opportunity to bring together the strengths of inflammation medicine from across the United Kingdom.

“By working together we will learn from cohorts of patients with seemingly different conditions, such as psoriasis, arthritis, kidney and liver disease, and bring them together to shed new light on the specific causes of each condition individually, but also we hope to find common pathways that drive them collectively.

“Using this knowledge in future we will be able to seek new medicines, and importantly, by applying the principles of precision medicine, we will be able to use these new medicines in the right person, at the right time, and at the right dose.”

The IMIDs are clinically diverse, variously targeting the skin, joints, or kidneys, but share some common genetic features, environmental triggers and inflammatory mechanisms. Since the 1990s, drugs and improved treatment strategies have revolutionised the treatment of a significant proportion of people with some IMIDs. However some IMIDs have not really progressed and even in those in which advances are notable, many patients do not yet respond to treatment or lose their responses over time.

Until now, most IMID collections of data have been specific to only one disease, leading to a narrow approach to the broader inflammation medicine field. 

Researchers hope that this project will enable wider, safer use of biologics and new medicines across the IMID spectrum. By bringing together samples and comparing data and clinical practice, it will optimise clinical pathways for common IMIDs, and provide much needed insight into biologic use in rarer or poorly characterised IMIDs, ultimately delivering patient benefit and health care savings.

A Nigerian public health professional has graduated from a world-leading 91Ö±²¥ course, and she now hopes to use her skills to improve the health of young people in her home country.

Ogochukwu Okoye, a physician and lecturer at Delta State University Teaching Hospital in Nigeria, took the University’s online Master of Public Health course, and wrote her dissertation about the risk of chronic kidney disease in young Nigerians exposed to crude oil - a major concern in the country, as the oil industry has left areas of the Niger Delta heavily polluted.

She now hopes to apply for a grant that will enable her to carry out this research in reality, with the intention of influencing Government policy, improving the local population’s health and instigating a clean-up of the environment.

The University’s Master of Public Health course offers an innovative training approach for public health professionals, or those interested in a career in the area. It equips students with the skills and knowledge to apply to public health concerns at local, national and international level, and the ability to apply theory and scientific principles to practical situations.

The course can be studied entirely online, and most students spread the programme over 3-5 years, remaining in their own country and in employment. Participants come from over 40 countries worldwide, including many in Africa.

"I registered for this course to improve myself in areas of medicine that are key for a wholesome practice," said Ogochukwu. "The team at 91Ö±²¥ exposed me to a highly effective manner of teaching, thus made learning worthwhile."

“Our programme teaches students to develop a critical evidence-based approach to the discipline of public health.” said Isla Gemmell, a senior lecturer on The University of Manchester’s Master of Public Health Programme.

“Throughout her studies, Ogochuckwu demonstrated a great deal of self-motivation and willingness to learn. She is in a unique position to make a real difference to the health of the population in Nigeria through her research and her teaching.”

If you would like to learn more about the Master of Public Health course, .

at The University of Manchester will receive a major funding boost as part of an £118m injection announced today by charitable foundation, Wellcome Trust.

The investment of over £5m for the 91Ö±²¥ site over the next five years will mean the world-class researchers within the Centre can continue to conduct fundamental research into the relationship between cells and matrix to assist with understanding vertebrate development, healthy ageing, and identifying targets for disease intervention.

The Centre, directed by of The University of Manchester, will also generate new opportunities for clinical research through collaboration with other leading local centres including 91Ö±²¥ Academic Health Science Centre, the Biobank, 91Ö±²¥ Collaborative Centre for Inflammation Research, NIHR Biomedical Research Centre, and the Cancer Research UK 91Ö±²¥ Institute.

The Wellcome Centre for Cell-Matrix Research is an interdisciplinary research centre embedded within the Faculty of Biology, Medicine and Health at The University of Manchester. It was established in 1995 with the long-term aims of determining the mechanisms underpinning how cell-matrix interactions build mechanically-strong tissues, control normal tissue formation and function, regulate the immune system and cell migration, and how their disruption causes diseases such as fibrosis, kidney disease, and musculoskeletal conditions.

Thirteen Wellcome Centres across the UK along with one in Cape Town, South Africa will receive part of £118m investment, seven of which will be newly established centres while the rest will explore new avenues under a refreshed vision.

, Vice-President and Dean of said: “This investment is fantastic news for 91Ö±²¥ and the research community in the UK as a whole.

“Facilities like the Centre for Cell-Matrix Research provide a fundamental source of knowledge and understanding on cutting-edge biological research which is hugely beneficial in aiding our understanding of illnesses and diseases which will probably affect all our lives in some way.

“The funding will mean that our team of dedicated and highly skilled staff can continue their crucial work for the next five years, thus supporting Wellcome with its philosophy to improve human health, and ensuring The University of Manchester maintains its position at the forefront of pioneering health research.”

Director, Dr Jeremy Farrar said: “Wellcome Centres play a special role in the global research ecosystem. By creating places where researchers can flourish we can catalyse world-leading research and translation, and amplify its influence and impact.

“At Wellcome we believe in long term support for discovery-driven science, and Wellcome Centres are an outstanding environment for researchers to further our understanding of fundamental biology, accelerate translation to clinical practice, and explore the social and cultural context of medicine."

The Royal College of General Practitioners (RCGP) has named a research study funded by the National Institute for Health Research  (NIHR CLAHRC) Greater 91Ö±²¥ as its Research Paper of the Year.

The award, which recognises an individual or group of researchers who have published an exceptional piece of research relating to general practice or primary care, went to a study whose lead author was The University of Manchester’s Dr Gavin Daker-White.

The paper, entitled ‘’, was published in the journal Social Science and Medicine and explores how patients learn about and react to a diagnosis of early stage CKD – particularly as some GPs routinely register patients as early stage CKD but do not always fully disclose the diagnosis to their patient.

The partial or non-disclosure of diagnosis by GPs is at the heart of the paper. It raises questions over the purpose of CKD as diagnosis to support patient self-management. The rationale for incentivising GP practices to maintain a CKD register requires clarity for both clinicians and patients.

“Patient self-management is a critical factor in positively managing symptoms and treatments in chronic kidney disease as well as other diseases; I am delighted for my colleagues that our work in highlighting non-disclosure of CKD diagnoses may help support more meaningful dialogue and in doing so, help patients take more control of their health,” said Dr Daker-White, Research Fellow with the University’s NIHR Greater 91Ö±²¥ Primary Care Patient Safety Translational Research Centre.

Dr Daker-White, along with Dr Tom Blakeman – a GP and Clinical Senior Lecturer in Primary Care at The University of Manchester’s School of Health Sciences – accepted their £1000 prize for winning the Research Paper of the Year at a ceremony at Stationers’ Hall in London last night (28 September 2016).

As part of the award, the team will be able to present their paper at the RCGP’s Annual Conference in Harrogate in October 2016.

Funding

This study was funded by the National Institute for Health Research Collaboration for Leadership in Applied Health Research and Care (NIHR CLAHRC) Greater 91Ö±²¥. The NIHR is funded by the Department of Health to improve the health and wealth of the nation through research. The NIHR is the research arm of the NHS. Since its establishment in April 2006, the NIHR has transformed research in the NHS. It has increased the volume of applied health research for the benefit of patients and the public, driven faster translation of basic science discoveries into tangible benefits for patients and the economy, and developed and supported the people who conduct and contribute to applied health research. The NIHR plays a key role in the Government’s strategy for economic growth, attracting investment by the life-sciences industries through its world-class infrastructure for health research.

Photograph, courtesy of Grainge Photography and the RCGP, shows Drs Tom Blakeman (left) and Gavin Daker-White (right) receiving their award.

A gene dubbed the ‘Teashirt’ by its discoverers has been identified as a link between children with kidney problems and autism, in a new study which has implications for how doctors working on both conditions administer tests to their patients.

The new paper, published in the journal Nature Genetics, was led by the Developmental Biology Institute of Marseille, collaborating with The University of Manchester, and it describes the effects of mutations of Teashirt in people and mice.

The gene, formally named Tshz3, had already been implicated by the joint research team in 2008 as being essential for development of smooth muscle in the wall of the ureter. Mutant mice were born with ‘blown-up’ kidneys because their ureters failed to actively propel urine down to the bladder.

Professor Adrian Woolf from The University of Manchester, then working as a children’s consultant in London, discovered that one of his patients born with abnormal kidneys had a deleted Tshz3 gene and also displayed characteristics of autistic spectrum disorder.

The French team also realised that mice with Tshz3 mutation not only had kidney problems but also displayed learning difficulties.

The findings sparked a global search of other kidney clinics, which returned ten more patients with similar symptoms. After genetic testing, it was confirmed that the same gene was missing in all of them – findings which are published in the new paper.

Professor Woolf said: “The mutant mouse kidney looks just like ‘hydronephrosis’, the distended kidney seen in about 1 in 1,000 individuals when they are screened by sonar scans as unborn babies. It now appears that this gene is linked to at least some of these cases and that it also has implications for how our brains work in childhood.”

The research was led by Professor Laurent Fasano in Marseille who discovered the teashirt gene in fruit flies in 1991. He said: “The sooner the better; early detection of this new condition will favour early behavioural therapies, which is good for the kids and their family.”

The link between the two diseases has implications for how doctors work with patients who display either kidney or learning problems.

Professor Woolf, who is also a consultant at the Royal 91Ö±²¥ Children’s Hospital where he runs a renal genetics clinic, added: “A fairly simple genetic test on patients being treated for either kidney problems or autistic spectrum disorder could identify whether the Teashirt gene is missing and also highlight that the patient may need investigation for the other condition. Time will tell whether TSHZ3 plays a role in many more cases than we’ve currently been able to identify.”

The paper ('Tshz3 deletion causes an autism syndrome and defects in cortical projection neurons' ; DOI 10.1038/ng.3681) will be published in the journal Nature Genetics on 26 September 2016. Research was part-funded by the Medical Research Council.

Scientists have developed a new imaging test that could enable doctors to identify more dangerous tumours before they spread around the body – and tailor treatment accordingly.

Teams at The University of Manchester and The Institute of Cancer Research, London describe detailed development of magnetic resonance imaging (MRI) technology to map areas of oxygen deprivation within tumours.

Lack of oxygen, or hypoxia, is often a sign that a cancer is growing aggressively. Hypoxia also stimulates the growth of blood vessels within tumours, which in turn can fuel the spread of cancer cells to other parts of the body.

The new study could also lead to more effective radiotherapy planning to boost the doses of X-rays delivered to dangerous, hypoxic areas within tumours, and new ways of monitoring whether radiotherapy or some drugs are working.

The study, published in today, was funded by a range of organisations including , and .

Researchers used an emerging technology called oxygen-enhanced MRI to produce maps of hypoxia within tumours grown by implanting cancer cells into mice. The technology is now being further developed through clinical studies of cancer patients.

Oxygen-enhanced MRI works by monitoring alterations in image intensity caused by changes in the concentration of dissolved oxygen in blood plasma and tissue fluid, during inhalation of pure oxygen gas. Some tissues take up the extra oxygen more rapidly than others, which show as more intensely changing regions under the MRI scan.

The researchers predicted that images of hypoxic tumour areas would change intensity less dramatically than better oxygenated areas.

They followed a several-step process to prove their MRI technique worked at detecting areas of hypoxia, beginning with the imaging of tumours grown from a cell line of kidney cancer cells known to lead to highly hypoxic tumours.

They then imaged a slower-growing kidney tumour type and tumours grown from a line of bowel cancer cells, to show their technique also worked for less hypoxic tumours.

They cross-referenced their images against samples from the tumours viewed under the microscope to confirm their findings from the scans.

91Ö±²¥ co-leader Dr Simon Robinson, Team Leader in Magnetic Resonance at The Institute of Cancer Research, London, said: “Our technique uses MRI technology to detect tumours with areas of oxygen depletion, which tend to be more aggressive and more resistant to radiotherapy and chemotherapy. Our study provides strong pre-clinical evidence to validate the use of oxygen-enhanced MRI to identify, quantify and map tumour hypoxia.

91Ö±²¥ co-leader , Group Leader at The University of Manchester, said: “There is currently no validated, affordable and widely available clinical imaging technique that can rapidly assess the distribution of tumour hypoxia. Our findings from studies in mice are already being translated for use on conventional clinical MRI scanners. Ultimately we hope that oxygen-enhanced MRI will not only to identify the most dangerous tumours, but to assist radiotherapy treatment planning and for monitoring treatment response.”

Nell Barrie, senior science information manager at Cancer Research UK, said: “When cancer cells run out of oxygen, they’re more likely to spread from the original tumour, making the disease much harder to treat. Spotting this process in action could help improve treatment, especially for more aggressive tumours, and this early-stage research in mice will help to find new ways to use existing scanning technology to monitor and personalise each patient’s treatment. By combining different techniques such as imaging and radiotherapy, these promising results can be translated into benefits for patients in the years ahead.”

The full paper: 'Oxygen enhanced MRI accurately identifies, quantifies, and maps hypoxia in preclinical cancer models', doi: 10.1158/0008-5472.CAN-15-2062 can be read .

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