hheadmin, Author at Hospital Healthcare Europe

Press Releases

Take a look at a selection of our recent media coverage:

Researchers identify potential treatment target for Crohn’s disease

9th August 2019

Researchers at Case Western Reserve University School of Medicine identified a pathway in the immune system activated in Crohn’s disease (CD) and which holds promise for investigating new treatments.

Fabio Cominelli, MD, professor of medicine at the School of Medicine and chief of gastroenterology at University Hospitals Cleveland Medical Center, led a three-year study, published recently in Cellular and Molecular Gastroenterology and Hepatology, focusing on the chronic inflammation that occurs in genetically susceptible individuals with CD.

Using mouse models of CD, Cominelli and his team investigated the interaction between a class of proteins called tumour necrosis factor and receptors on the surface, called Fn14. Their goal was to see how the tumour necrosis factor (or TWEAK, for Tumour Necrosis Factor-like Weak Inducer of Apoptosis) and its cell receptor, Fn14, may play a dual role of both protecting the intestine from acute and chronic inflammation characteristic in CD, and how it might also trigger it.

Scientists have been studying the TWEAK/Fn14 interaction for at least two decades to understand its role in inflammation. Cominelli and his team, however, are the first to describe this signalling complex in CD.

“During early inflammation, TWEAK/Fn14 activates to heal tissue damage,” said Cominelli. “However, during later, chronic inflammation, increased and persistent levels of Fn14 may lead to pathologic inflammation and fibrosis.”

Today’s CD treatments, such as steroids and monoclonal antibodies, may work for a while, but often cease to be effective. They also may cause hypertension, infection and the risk of birth defects in pregnant women being treated for IBD. As CD patients endure a roller-coaster ride of flare-ups, repeated hospital stays, surgeries and treatments relieved by intervals of remission, the disease becomes dramatically life-changing and emotionally stressful.

To better understand the link between TWEAK/Fn14 and chronic inflammation, the team of researchers used mice bred to develop CD-like disease, and then genetically deleted the cell-surface receptor Fn14. The mice with genetically deleted Fn14 had less severe inflammation. Those with the Fn14 receptor had chronic intestinal inflammation and scarring.

To test whether their findings in mice could be meaningful to CD in humans, the research team then used molecular diagnostics to analyse resected intestinal tissues from patients with and without IBD. The results showed significant TWEAK/Fn14 overexpression in tissue from patients with CD. Cominelli believes that blocking Fn14 pharmacologically using novel drugs and antibodies may ameliorate the inflammation and fibrosis in CD.

The study has implications for cancer treatment as well. According to Cominelli, since chronic inflammation can lead to the initiation and growth of tumours in patients with IBD, those patients are exposed to a risk of developing colorectal cancer that is directly proportional to the extent and duration of their disease.

“This research establishes the rationale for investigating innovative therapies that can improve and save lives,” Cominelli said.

Reference

Martino L et al. TWEAK/Fn14 Is Overexpressed in Crohn’s Disease and Mediates Experimental Ileitis by Regulating Critical Innate and Adaptive Immune Pathways. Cellular Molec Gastroenterol Hepatol DOI: 10.1016/j.jcmgh.2019.05.009.

Researchers identify potential treatment target for Crohn's disease

Who needs a pill sorter?

8th August 2019

Researchers at the University of East Anglia have developed guidance to help prescribers and pharmacists decide which patients should use a pill organiser.

The team’s previous research has shown that switching to using an organiser can do more harm than good. Their latest study reveals that pharmacies are giving out twice as many pill organisers as they were ten years ago.

It is hoped that the new guidance will help prescribers better understand which patients’ health could be put at risk by using an organiser. It will also help patients and their carers know what they can ask for to help with taking medicines as prescribed.

Lead researcher Dr Debi Bhattacharya, from UEA’s School of Pharmacy, said: “A lot of people use pill organisers to help them take the right medication at the right time of the day.

“The fact that using a pill organiser could cause harm to patients sounds rather counterintuitive. But our research showed that patients were more likely to become unwell when they switched from taking their medication straight from the packet to using a pill organiser. In some cases, older people can even end up being hospitalised.

“This is likely because when the patients had been taking their medication sporadically, they weren’t getting the expected health improvements. Their doctor may therefore have increased the dose of the medication to try to get the desired effect.

“When these patients were switched to a pill organiser and suddenly started taking all of their medication as prescribed, they experienced side effects of the medication.

“With usual medication packets, if a patient doesn’t get on with a particular pill it’s easy to deliberately miss it. A drawback to organisers is that the patient can’t tell which pill they want to miss so sometimes they stop taking all of their pills. This can lead to serious health complications that wouldn’t have occurred if they had simply skipped that one tablet.”

The new study shows that the provision of organisers by pharmacies has more than doubled in a decade. But pharmacists are not considering the risk of adverse events arising from a patient’s sudden increased adherence to their medication.

To combat these problems, the research team developed a set of guidelines for healthcare teams to work with patients to decide who might benefit from pill organisers and who may get better results with other solutions such as easy open medicine bottles or coloured labelling.

The ‘Medication Adherence Support Decision Aid’ (MASDA) guidance has been endorsed by the Royal College of Physicians and the Royal Pharmaceutical Society. And the research team hope that it will be adopted by the NHS.

Dr Bhattacharya said: “Until now there has been no guidance about which patients should be using medication organisers.

“Our new algorithm encourages prescribers to consider the emotional and practical barriers that might stop patients taking their medication correctly.

“Emotional barriers to taking medication as prescribed can include things like whether the patient is anxious or lacking confidence, lacking motivation or experiencing unwanted side effects. In all of these cases, using a pill organiser is likely to be inappropriate.

“Better solutions are likely to be identifying social support to boost the patient’s confidence, providing information on medication benefits, agreeing goals or even stopping the medication.”

“Practical barriers include things like whether the patient has impaired manual dexterity, visual impairment or difficulty remembering. In these cases, using an organiser may be appropriate but it’s important to first seek other potential solutions.

“These solutions could range from providing medication in bottles without childproof lids, using colour coded bottles or helping the patient develop routines and reminders.

“When switching from usual packaging to a pill organiser, we recommend that patients speak to their GP or pharmacist to check that the doses of their medication are appropriate.”

“People who are already using a pill organiser without any ill effects should not stop using it as they do seem to help some patients take their medication as prescribed. It’s the switching stage which appears to be the danger.”

Gluten response in coeliac patients could aid diagnosis

Distinct markers in the blood of people with coeliac disease have been detected within a few hours of gluten being consumed.

The research, published in Science Advances, involved an international collaboration of the world’s leading coeliac disease experts.

The peer-reviewed study included the Walter and Eliza Hall Institute of Medical Research in Australia, University of Oslo in Norway, and in the US, Massachusetts General Hospital and University of Chicago.

Associate Professor Jason Tye-Din, head of coeliac research at the Institute and a gastroenterologist at The Royal Melbourne Hospital said work was now underway to explore the development of a simple blood test for coeliac disease.

“For the many people following a gluten-free diet without a formal diagnosis of coeliac disease, all that might be required is a blood test before, and four hours after, a small meal of gluten.

“This would be a dramatic improvement on the current approach, which requires people to actively consume gluten for at least several weeks before undergoing an invasive procedure to sample the small intestine,” Associate Professor Tye-Din said.

Coeliac disease affects approximately 1.4% of people globally, many of whom remain undiagnosed. Symptoms of the disease are caused by a damaging immune response to gluten. After consuming gluten, patients can experience reactions such as nausea, vomiting, abdominal pain and diarrhoea.

Dr Bob Anderson, a joint senior author of the paper and the Chief Scientific Officer of ImmusanT Inc., said the new findings could address an important medical need.

“For the first time we have described the inflammatory reaction that patients with coeliac disease experience in the immediate hours after they are exposed to gluten.

“The unpleasant symptoms associated with the disease are linked to an increase in inflammatory molecules in the bloodstream, such as interleukin-2 (IL-2), produced by T cells of the immune system. This response is similar to what happens when an infection is present, however for people with coeliac disease, gluten is the trigger.

“This information underpins a potential new approach to diagnosis that addresses the emerging medical need to identify patients without coeliac disease who may be better served by other treatments for their chronic symptoms,” Dr Anderson said.

Researchers at ImmusanT first discovered the immune markers while assessing blood samples during the Phase I trial of a potential coeliac therapy called Nexvax2. Gastrointestinal symptoms in patients injected with the gluten peptides, particularly nausea and vomiting, correlated with higher levels of IL-2 in their blood.

Subsequent testing showed the consumption of gluten produced the same IL-2 response in people with coeliac disease.

CEO of Coeliac Australia, Ms Michelle Laforest, said the finding would be welcome news for the coeliac community in Australia.

“The potential for a one-off gluten challenge and blood test could make a significant difference to many thousands of Australians who report sensitivity to gluten but have been unable to tolerate the current testing approach.

“It is clear this research has the potential to revolutionise the current testing regime for coeliac disease globally,” Ms Laforest said.

Gluten response in coeliac patients could aid diagnosis

Dupilumab reaches primary and secondary endpoints in paediatric trial

A pivotal Phase III trial evaluating Dupixent® (dupilumab) in severe atopic dermatitis in children has met its primary and secondary endpoints.

The topline data show that for children with severe atopic dermatitis (covering nearly 60% of their skin surface on average), adding Dupixent to standard-of-care topical corticosteroids (TCS) significantly improved measures of overall disease severity, skin clearing, itching and health-related quality of life, compared to TCS alone. In addition, the safety data were consistent with the previously documented safety profile of Dupixent in older populations, including a numerically lower rate of skin infections compared to placebo.

“The results from this trial, the first to assess a biologic medicine in children under 12 with atopic dermatitis, are very important because of the significant unmet needs in this patient population. Children in the trial had suffered from severe atopic dermatitis for most of their lives,” said George D Yancopoulos, MD, PhD, President and Chief Scientific Officer of Regeneron. “The trial showed that Dupixent significantly improved outcomes and quality of life, with no new safety signals.

Dupixent is a fully-human monoclonal antibody that inhibits the signaling of the interleukin-4 (IL-4) and interleukin-13 (IL-13) proteins. Data from Dupixent clinical trials have shown that IL-4 and IL-13 are key drivers of the type 2 inflammation that plays a major role in atopic dermatitis, asthma and chronic rhinosinusitis with nasal polyposis (CRSwNP).

“In this trial, children with severe atopic dermatitis had uncontrolled disease covering, on average, nearly 60% of their skin. The unrelenting symptoms of this disease, which impact not just the child but the whole family, include widespread rashes, intense and persistent itching, and skin lesions,” said John Reed, MD, PhD, Global Head of Research and Development at Sanofi. “Symptoms of severe atopic dermatitis can take a toll on children both physically and emotionally. We are encouraged by these results, which demonstrate that Dupixent improved skin lesions, reduced itching, cleared the skin and importantly, improved health-related quality of life measures for these young patients.”

The primary endpoints assessed the proportion of patients achieving an Investigator’s Global Assessment (IGA) score of 0 (clear) or 1 (almost clear) and 75% improvement in Eczema Area and Severity Index (EASI-75, the co-primary endpoint outside of the US) at 16 weeks.

Dupilumab reaches primary and secondary endpoints in paediatric trial

Blood clotting proteins in urine discovered as biomarkers of lupus nephritis

University of Houston researcher Chandra Mohan is reporting in Arthritis Research and Therapy that clotting proteins, both those that promote blood clots (pro-thrombotic) and those that work to dissipate them (thrombolytic), are elevated in the urine of patients who suffer from lupus nephritis (LN).

“Among the proteins examined, urine plasmin emerged as the strongest independent predictor of kidney function and renal disease status,” reports Mohan, Hugh Roy and Lillie Cranz Cullen Endowed Professor of biomedical engineering.

“Urine biomarkers represent promising candidates for the early diagnosis as well as the monitoring of disease activity and therapeutic responses in lupus nephritis.” The discovery of the new biomarker for active LN opens the door for clinical monitoring of the disease.

New immunosuppressive drugs and biologics have brought improvements in recent SLE and LN survival rates, but early diagnosis and monitoring disease flares are still challenges that need to be addressed. Renal biopsy remains the gold standard for the diagnosis and prognosis of LN, but it is invasive and cannot be used for routine monitoring of disease activity and treatment responses. Because of this, several studies focusing on screening and identifying non-invasive biomarkers for the early diagnosis and monitoring of SLE and LN are emerging.

Because coagulation system disorders have been reported in SLE and lupus nephritis patients and the frequency of thrombotic events was documented to be higher in SLE patients than in the general population, Mohan’s lab examined urinary proteins related to coagulation.

Finding elevations in both pro-thrombotic and thrombolytic proteins in the urine of patients with lupus nephritis was unexpected.

“When I first saw the presence of both I thought ‘This can’t be right, so let’s look at this in more detail with more urine samples and better assays,'” said Mohan, who describes the presence of both proteins as “a raging war” within the kidneys. If one or the other predominates, he said, there are medicines that can regulate the clotting in balance, but when both processes are equally upregulated, balancing this biological process becomes clinically challenging.

Blood clotting proteins in urine discovered as biomarkers of lupus nephritis

Dupilumab approved by EC for adolescents with moderate-to-severe atopic dermatitis

7th August 2019

The European Commission has extended the marketing authorisation for Dupixent^® (dupilumab) in the European Union to include adolescents 12 to 17 years of age with moderate-to-severe atopic dermatitis who are candidates for systemic therapy.

Dupixent is now the first biologic medicine approved in the EU to treat these patients.

“Moderate-to-severe atopic dermatitis can affect many aspects of an adolescent’s life, including their physical and emotional well-being,” said Christine Janus, Chief Executive Officer of the International Alliance of Dermatology Patient Organizations. “This disease places an immense burden not only on the young people living with it but also the family members who care for them. We welcome the addition of new treatment options to help adolescents control and manage an often debilitating disease.”

Atopic dermatitis, the most common form of eczema, is a chronic inflammatory disease. In its moderate-to-severe form, it is characterized by rashes that can potentially cover much of the body, and can include intense, persistent itching, skin lesions and skin dryness, cracking, redness, crusting and oozing. Inadequately controlled atopic dermatitis can have a physical, emotional and psychosocial impact, causing sleep disturbance, symptoms of anxiety and depression, and feelings of isolation. Despite standard-of-care therapy, there continues to be an unmet need for many adolescents with moderate-to-severe atopic dermatitis who often have uncontrolled, persistent symptoms.

“Adolescents with moderate-to-severe atopic dermatitis in the EU now have an approved biologic medicine that can significantly control persistent, debilitating symptoms like itch and skin lesions, as well as improve sleep, which is particularly critical during these formative years,” said George D Yancopoulos, MD, PhD, President and Chief Scientific Officer at Regeneron. “Today’s approval also provides these young patients with a treatment option that addresses the type 2 inflammation that underlies atopic dermatitis. In addition to its approved uses in atopic dermatitis and asthma in the EU, we continue to investigate Dupixent in a broad range of patients with other type 2 inflammatory diseases.”

Dupixent is a fully-human monoclonal antibody that inhibits the signalling of the interleukin-4 (IL-4) and interleukin-13 (IL-13) proteins. Data from Dupixent clinical trials have shown that IL-4 and IL-13 are key drivers of the type 2 inflammation that plays a major role in atopic dermatitis, as well as asthma and chronic rhinosinusitis with nasal polyposis (CRSwNP is currently under review in the EU).

“Adolescents with inadequately controlled moderate-to-severe atopic dermatitis face a certain set of challenges that can have a lasting impact on their lives. The physical and psychological symptoms of moderate-to-severe atopic dermatitis can prevent adolescents from fully participating in activities with their peers, including school, sports and hobbies, and can often place a serious burden on family members,” said John Reed, MD, PhD, Head of Research and Development at Sanofi. “From our Phase III trials, we know Dupixent significantly reduced itch, helped clear the skin, and improved health-related quality of life outcomes for adolescents at this critical period of their lives.”

Dupilumab approved by EC for adolescents with moderate-to-severe atopic dermatitis

NICE recommends additional treatment option for people with early breast cancer

The National Institute for Health and Care Excellence has published draft guidance recommending neratinib as an additional treatment for some people with early hormone-receptor-positive, human epidermal growth factor receptor 2 (HER2)-positive breast cancer.

Neratinib (also called Nerlynx and marketed by Pierre Fabre) is recommended, under the terms of a commercial arrangement, for routine commissioning for people with this type of breast cancer who are less than 1 year from completing trastuzumab (Herceptin)-based treatment following surgery (adjuvant treatment).

Neratinib is recommended provided trastuzumab is the only HER2-directed adjuvant treatment people have had. For people who have had treatment before surgery to reduce tumour size (neoadjuvant treatment), the draft guidance says they should still have signs of cancer in tissue samples (residual invasive disease in the breast or armpit, known medically as the axilla) following the neoadjuvant treatment to be eligible for treatment with neratinib.

Neratinib, which is taken as 6 x 40 mg tablets daily for 1 year, represents a further adjuvant treatment option in the early breast cancer treatment pathway.

Nearly 50,000 women and 400 men are diagnosed with breast cancer each year in the UK and around one in five tumours will be HER2-positive.

It is estimated that around 1600 people would be eligible for treatment with neratinib following adjuvant treatment with trastuzumab.

The clinical trial evidence showed that people who had treatment with neratinib have less risk of disease recurrence than people who had treatment with a placebo. Despite there being no available data about how this might translate into increasing the overall length of time people live, the committee concluded that the cost-effectiveness estimates for neratinib made it an acceptable use of NHS resources.

Meindert Boysen, director of the Centre for Health Technology Evaluation at NICE, said: “Breast cancer remains the most common form of cancer in the UK, accounting for around 30% of all cancers in women. And although there have been advances in the treatment of early stage HER2-positive breast cancer, around a quarter of people treated with trastuzumab following surgery will have a recurrence of their cancer.

“We are therefore pleased to be able to recommend neratinib as a further treatment option for people with this type of breast cancer, based on the benefits it provides in extending the time before the disease gets worse and on its important potential to reduce the risk of the cancer returning.”

The neratinib trial did not include people who received adjuvant pertuzumab. Also, the trial did not include people who had no sign of residual invasive disease in the breast or axilla after neoadjuvant treatment, therefore these groups were not included in the draft recommendations.

Consultees, including the company, healthcare professionals and members of the public are able to comment on the draft recommendations via the NICE website until 28 August 2019. All comments received during this consultation will be considered by the committee at its meeting in September 2019.

NICE recommends additional treatment option for people with early breast cancer

UK charity announces research investment to find Parkinson’s drug

6th August 2019

Charity Parkinson’s UK is partnering with the University of Sheffield to discover and develop a potential drug that could protect the dopamine-producing brain cells affected by Parkinson’s.

The charity will invest up to £100,000 as part of their pioneering Virtual Biotech programme. This initiative aims to fast-track the best ideas and rapidly turn them into promising treatments, that can be tested and progressed to transform the lives of people with Parkinson’s.

Scientists at the University of Sheffield’s Institute of Translational Neuroscience (SITraN) – a world leading centre for neuroscience research – and Parkinson’s UK will work together to modify two compounds in the study. These have been found to boost mitochondrial function in dopamine-producing brain cells and potentially reduce nerve cell death. They will look to maximise the potency and selectivity of these beneficial effects on mitochondria.

In Parkinson’s, brain cells that produce a chemical called dopamine are slowly lost over time. Dopamine allows messages to be sent to the parts of the brain that help to coordinate movement. To do this effectively, the dopamine-producing brain cells need to be constantly active. They rely on energy-producing mitochondria, the powerhouses of cells, to function properly. Any disruption could lead to dysfunction and degeneration of dopamine-producing brain cells and eventual cell death.

It is hoped the most promising compound from the study will be progressed along the drug discovery pipeline and pave the way towards potential new treatments that will protect the brain cells, slow down the progression of Parkinson’s and extend quality of life.

Richard Morphy, Drug Discovery Manager at Parkinson’s UK, said: “We are delighted to partner and work with Heather Mortiboys and her team at the University of Sheffield. Through our Virtual Biotech initiative, we are committed to accelerating promising and breakthrough treatments for Parkinson’s.

“This is an exciting new approach that could rescue defective mitochondria inside neurons to prevent dysfunction and degeneration of dopamine-producing brain cells. With 148,000 people living with Parkinson’s in the UK, there is a desperate need for new and better treatments for Parkinson’s. We hope the project will identify a superior group of molecules that could one day deliver a life-changing drug for people living with the condition.”

Dr Heather Mortiboys, Parkinson’s UK Senior Research Fellow at the University of Sheffield’s SITraN, said: “I am really delighted to be working with Parkinson’s UK to progress these exciting compounds closer to the clinic to have a real benefit for people with Parkinson’s.

“We have already been working for five years at the Sheffield Institute for Translational Neuroscience to get to this stage, so investment from the Parkinson’s Virtual Biotech programme to further optimise the compounds towards a readily available treatment is great news. We know the mitochondria are defective in Parkinson’s; our work has found compounds, which can restore mitochondrial function in dopaminergic brain cells derived from people with Parkinson’s. If we can optimise the compounds for drug like properties we have a chance of delivering a drug which could slow the progression of Parkinson’s.”

To date Parkinson’s UK’s Virtual Biotech programme, has invested in six projects, to combat lost opportunities in drug discovery and early clinical development.

Parkinson’s UK is the largest charitable funder of Parkinson’s research in Europe. The charity is looking for partners to help it create a portfolio of projects that can attract further investment and take successful projects into the later stages of drug development and trials. For more information visit: www.parkinsonsvirtualbiotech.co.uk

UK charity announces research investment to find Parkinson’s drug

Shrinking brain tumours and opening the door for targeted cancer therapies

A new drug, known as IP1867B, could be used for future treatments of brain tumours, according to a recent study.

Dr Richard Hill led the research team at the Brain Tumour Research Centre at University of Portsmouth, working with the University of Algarve (Portugal), the University of Liverpool (UK) and Innovate Pharmaceuticals to examine IP1867B.

The research team showed that IP1867B worked with existing cancer treatments boosting their effectiveness and, in some cases, restored sensitivity to some treatments.

The success rate for cancer therapies has been limited due to a combination of factors, such as the tumour’s ability to hide from and develop resistance to the treatment; excessive side effects; the treatment not being clinically effective; and the lack of penetration through the blood brain barrier – IP1867B was shown to be effective at avoiding all of these limiting factors.

In the study, published in the journal Cancer Letters, IP1867B (which is a combination of three common ingredients – aspirin, triacetin and saccharin) was shown to reduce the size of adult high-grade glioma brain tumours in a mouse model, while reducing the gastrointestinal tract problems experienced when conventional aspirin tablets are taken.

This research suggests that IP1867B could be effective against glioblastoma (GBM), one of the most aggressive forms of human brain cancer, which kills thousands of patients within a year.

Dr Hill said: “To produce a completely new drug takes many years and is very expensive. By focusing our efforts on testing novel formulation techniques, we can move closer to a treatment more quickly than would otherwise be possible.

“We will continue to urgently investigate which drugs will combine most effectively and safely with IP1867B, to improve these results even further and reduce the need for long-term use. There is still much work to be done, but many reasons to be excited for future studies.”

The breakthrough came in laboratory tests in mice using cancer cells from adults with brain tumours. In all the variations of drugs tested, including separating out the three key components of IP1867B, it was considerably more effective than any combination of other components and some currently used chemotherapeutics. All three ingredients, which are already approved for use in the clinic, have been shown to kill tumour cells without having an effect on normal brain cells.

IP1867B was shown to reduce the action of Epidermal Growth Factor Receptor (EGFR), and block the Insulin-like Growth Factor 1 pathway thereby reducing the tumour’s ability to acquire resistance to these EGFR inhibitors. Tumours acquiring resistance to EGFR inhibitors via this pathway is a significant problem for these treatments. IP1867B effects multiple targets, helping to ‘light up’ the tumour and reverse acquired resistance.

Katie Sheen, Research Manager at Brain Tumour Research, which funds the University of Portsmouth Research Group, added: “Our work on combining drugs is a vital and key part of our ongoing developments in the fight against brain tumours, which are an incredibly complex form of cancer. Being able to take existing drugs that have already been approved for use in humans, developing them in novel ways and applying them in the treatment of brain tumours offers much hope for the future.”

Dr James Stuart, Medical Director at Innovate Pharmaceuticals, commented: “Our work on multiple disease areas in the cancer field has shown that hitting a number of targets with IP1867B allows us to not only shrink tumours but unmask them allowing other therapies to attack them. This action of ‘turning cold tumours hot’ alongside the reversal of acquired resistance, boosting combination efficacy and a possible lowering of side effect burden makes IP1867B a true breakthrough in cancer treatment.

“The next step is to take IP1867B into ‘first in human’ trial. Innovate are actively driving this next stage of development.”

Shrinking brain tumours and opening the door for targeted cancer therapies

Multiple genes affect risk of asthma, hay fever and eczema

In a new study from SciLifeLab at Uppsala University, researchers have found a total of 141 genes that largely explain the genetic risk underlying asthma, hay fever and eczema.

As many as 41 of the genes identified have not previously been linked to an elevated risk for these diseases. The results are published in the scientific journal Human Molecular Genetics.¹

The risk of developing asthma, hay fever or eczema is affected by genes, environment and lifestyle factors. Many patients diagnosed with one of these diseases also develop the other two at some stage in life. Although previous studies have found many genes that exert an effect on these diseases, research have been unable to explain the whole genetic background to the origin of asthma, hay fever and eczema.

In this study, which is the largest of its kind to date, researchers have analysed self-reported data from 350,000 participants in Britain’s UK Biobank. Millions of gene positions were tested for their effect on people’s risk of being diagnosed with asthma, hay fever and/or eczema. The 41 new genetic finds were also tested in an independent group of individuals comprising 110,000 clients of the American company 23andMe. This testing verified that most of these new genetic variants have an effect on the individual’s risk of developing disease. Every 23andMe participant, or client, has paid personally to send in a saliva sample, used by the company to analyse the person’s DNA. The participants then receive information about whether they carry various inherited genetic traits that may elevate their risk of a number of diseases. Researchers can apply to obtain results in which 23andMe have analysed clients’ DNA, to find additional genetic variants that affect the disease(s) analysed (in this case asthma, hay fever and/or eczema). The researchers can never access any given individual’s results, nor can they link their findings with specific individuals (the data are deidentified).

“For those interested in taking part in similar studies where they can get information about their own genetic inheritance, we’d like to point out that the results you can read from DNA in similar studies relate only to people’s disease risk, which doesn’t correspond to a diagnosis. External factors also affect our risk for these complex traits, and an elevated risk doesn’t mean we’re going to develop the disease,” says Weronica Ek, researcher at the Department of Immunology, Genetics and Pathology at Uppsala University, who headed the study.

The study showed that a large number of the genes identified entail a raised risk for all three diseases. This, in turn, shows that the elevated risk of suffering from allergy when asthma is diagnosed, or the elevated risk of asthma when allergy is diagnosed, seems to be largely due to genetic factors. The study was also able to identify several genes that boost the risk of one of these diseases in relation to the others, which demonstrates that a number of more disease-specific effects also exist.

All three diseases arise through a complex association among several genes and also with environmental and lifestyle factors. To be able to improve the patients’ everyday lives, it is important to develop drugs that are adapted to individual patients’ genetic risks, and also to understand how our environment and lifestyle can prevent disease and improve symptoms of disease.

“The results from this study are helping us to reach a greater understanding of why certain individuals are at higher risk of developing asthma and allergies, and we hope the results will be put to use both in clinical diagnostics and in drug development,” Ek says.