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Takeda and the New York Academy of Sciences Announce 2020 Innovators in Science Award Winners – Business Wire

NEW YORK & OSAKA, Japan--(BUSINESS WIRE)--Takeda Pharmaceutical Company Limited (Takeda) (TSE:4502/NYSE:TAK) and the New York Academy of Sciences announced today the Winners of the third annual Innovators in Science Award for their excellence in and commitment to innovative science that has significantly advanced the field of rare disease research. Each Winner receives a prize of US $200,000.

The 2020 Winner of the Senior Scientist Award is Adrian R. Krainer, Ph.D., St. Giles Foundation Professor at Cold Spring Harbor Laboratory. Prof. Krainer is recognized for his outstanding research on the mechanisms and control of RNA splicing, a step in the normal process by which genetic information in DNA is converted into proteins. Prof. Krainer studies splicing defects in patients with spinal muscular atrophy (SMA), a devastating, inherited pediatric neuromuscular disorder caused by loss of motor neurons, resulting in progressive muscle atrophy and eventually, death. Prof. Krainers work culminated notably in the development of the first drug to be approved by global regulatory bodies that can delay and even prevent the onset of an inherited neurodegenerative disorder.

Collectively, rare diseases affect millions of families worldwide, who urgently need and deserve our help. Im extremely honored to receive this recognition for research that my lab and our collaborators carried out to develop the first approved medicine for SMA, said Prof. Krainer. As basic researchers, we are driven by curiosity and get to experience the thrill of discovery; but when the fruits of our research can actually improve patients lives, everything else pales in comparison.

The 2020 Winner of the Early-Career Scientist Award is Jeong Ho Lee, M.D., Ph.D, Associate Professor, Korea Advanced Institute of Science and Technology (KAIST). Prof. Lee is recognized for his research investigating genetic mutations in stem cells in the brain that result in rare developmental brain disorders. He was the first to identify the causes of intractable epilepsies and has identified the genes responsible for several developmental brain disorders, including focal cortical dysplasias, Joubert syndromea disorder characterized by an underdevelopment of the brainstemand hemimegalencephaly, which is the abnormal enlargement of one side of the brain. Prof. Lee also is the Director of the National Creative Research Initiative Center for Brain Somatic Mutations, and Co-founder and Chief Technology Officer of SoVarGen, a biopharmaceutical company aiming to discover novel therapeutics and diagnosis for intractable central nervous system (CNS) diseases caused by low-level somatic mutation.

It is a great honor to be recognized by a jury of such globally respected scientists whom I greatly admire, said Prof. Lee. More importantly, this award validates research into brain somatic mutations as an important area of exploration to help patients suffering from devastating and untreatable neurological disorders.

The 2020 Winners will be honored at the virtual Innovators in Science Award Ceremony and Symposium in October 2020. This event provides an opportunity to engage with leading researchers, clinicians and prominent industry stakeholders from around the world about the latest breakthroughs in the scientific understanding and clinical treatment of genetic, nervous system, metabolic, autoimmune and cardiovascular rare diseases.

At Takeda, patients are our North Star and those with rare diseases are often underserved when it comes to the discovery and development of transformative medicines, said Andrew Plump, M.D., Ph.D., President, Research & Development at Takeda. Insights from the ground-breaking research of scientists like Prof. Krainer and Prof. Lee can lead to pioneering approaches and the development of novel medicines that have the potential to change patients lives. Thats why we are proud to join with the New York Academy of Sciences to broadly share and champion their workand hopefully propel this promising science forward.

Connecting science with the world to help address some of societys most pressing challenges is central to our mission, said Nicholas Dirks, Ph.D., President and CEO, the New York Academy of Sciences. In this third year of the Innovators in Science Award we are privileged to recognize two scientific leaders working to unlock the power of the genome to bring innovations that address the urgent needs of patients worldwide affected by rare diseases.

About the Innovators in Science Award

The Innovators in Science Award grants two prizes of US $200,000 each year: one to an Early-Career Scientist and the other to a well-established Senior Scientist who have distinguished themselves for the creative thinking and impact of their research. The Innovators in Science Award is a limited submission competition in which research universities, academic institutions, government or non-profit institutions, or equivalent from around the globe with a well-established record of scientific excellence are invited to nominate their most promising Early-Career Scientists and their most outstanding Senior Scientists working in one of four selected therapeutic fields of neuroscience, gastroenterology, oncology, and regenerative medicine. Prize Winners are determined by a panel of judges, independently selected by the New York Academy of Sciences, with expertise in these disciplines. The New York Academy of Sciences administers the Award in partnership with Takeda.

For more information please visit the Innovators in Science Award website.

About Takeda Pharmaceutical Company Limited

Takeda Pharmaceutical Company Limited (TSE:4502/NYSE:TAK) is a global, values-based, R&D-driven biopharmaceutical leader headquartered in Japan, committed to bringing Better Health and a Brighter Future to patients by translating science into highly-innovative medicines. Takeda focuses its R&D efforts on four therapeutic areas: Oncology, Rare Diseases, Neuroscience, and Gastroenterology (GI). We also make targeted R&D investments in Plasma-Derived Therapies and Vaccines. We are focusing on developing highly innovative medicines that contribute to making a difference in people's lives by advancing the frontier of new treatment options and leveraging our enhanced collaborative R&D engine and capabilities to create a robust, modality-diverse pipeline. Our employees are committed to improving quality of life for patients and to working with our partners in health care in approximately 80 countries. For more information, visit https://www.takeda.com.

About the New York Academy of Sciences

The New York Academy of Sciences is an independent, not-for-profit organization that since 1817 has been committed to advancing science, technology, and society worldwide. With more than 20,000 members in 100 countries around the world, the Academy is creating a global community of science for the benefit of humanity. The Academy's core mission is to advance scientific knowledge, positively impact the major global challenges of society with science-based solutions and increase the number of scientifically informed individuals in society at large. Please visit us online at http://www.nyas.org.

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Takeda and the New York Academy of Sciences Announce 2020 Innovators in Science Award Winners - Business Wire

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Connection Between Psoriasis and Joint Disease Indicates Early Treatment Can Be Key – AJMC.com Managed Markets Network

Researchers identified a protein that can not only worsen skin inflammation but also plays a key role in damaging joints and bones of patients with psoriasis.

Patients with psoriasis show higher rates of diverse comorbid conditions, such as psoriatic arthritis (PsA), which occurs in one-third of patients with psoriasis and can cause severe, disabling joint disease. However, the reason why so many people with psoriasis develop PsA hasnt been clear.

Since the damage that occurs as a result of PsA is irreversible, identifying patients with PsA early, before too much damage is done to bones, tendons, and joints, is an important consideration, researchers noted.

A team led by Case Western Reserve University School of Medicine researchers discovered that normalizing KLK6 can eliminate skin inflammation and reduce the arthritis-like damage.

"To discover that turning down KLK6 eliminated the skin inflammation and even improved the arthritis-like changesthat was unbelievable," Nicole Ward, PhD, the study's principal investigator and a professor of nutrition and dermatology at the medical school, said in a statement. "This suggests that clinicians need to aggressively treat patients with psoriasis to prevent the arthritis changes, which generally occur after the skin disease presents itself. Since the joint and bone damage are largely irreversible in patients, prevention becomes critical."

In previous research, Ward found that the skin of patients with psoriasis had 6 times more KLK6 than normal. In addition, the PAR1 receptor protein, which causes cellular/tissue responses like inflammation when activated, is overproduced in these patients skin and immune cells. The theory that came from these findings was that KLK6 drove inflammation through signaling of PAR1.

In this new study, the researchers overproduced KLK6 through genetic engineering to develop psoriasis-like skin disease. When PAR1 was deleted, there was a reduction in skin inflammation, as well as an improvement in bone and joint problems.

"These findings suggest that chronic inflammation originating in the skin has the capacity to cause distant joint and bone destruction seen in arthritis, according to Ward.

Reference

Billi AC, Ludwig JE, Fritz Y, et al. KLK6 expression in skin induces PAR1-mediated psoriasiform dermatitis and inflammatory joint disease. J Clin Invest. 2020;130(6):3151-3157. doi:10.1172/JCI133159

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The pain management revolution amid coronavirus and the opioid crisis – ABC News

In a country plagued by the opioid crisis, the race is on to find novel solutions for managing pain. One in five Americans experience some sort of chronic pain.

Opioids are powerful painkillers prescribed by a doctor. Because they are highly addictive, prescription opioids have led to a nationwide epidemic killing 128 people each day, according to the Centers for Disease Control and Prevention. To avoid the potential dangers of opioids prescribed for pain management, many doctors are turning to new medication called "neuromodulators," some of which are also used to treat depression. These medications, which include gabapentin, pregabalin and duloxetine, affect the way the nervous system perceives pain rather than targeting pain directly.

Though effective for some, they're not the right treatment for everyone.

"What happens with not just medications but with almost all of our treatments for pain [is that] about 30 to 40% of people improve with any one treatment," said Dr. Ajay D. Wasan, a professor and vice chair at the University of Pittsburgh School of Medicine, and president of the American Academy of Pain Medicine.

A person with back pain.

While a growing number of scientists are studying alternatives to opioids, finding a single pill that alleviates all pain is unlikely. Instead, researchers and doctors believe that medicine is on the cusp of a revolution in the way providers treat pain. They predict that pain management will shift toward customizing treatment for each individual patient rather than prescribing one type of drug as a cure-all.

Wasan said he is optimistic about the future, with several new pain treatments in the pipeline which could broaden options for the one in five Americans experiencing chronic pain.

His hope is that with additional research and therapy combinations, "maybe 50 to 60% of patients may respond to a particular treatment."

"As a prescriber you want an array of options," said Dr. Rebecca Baker, director of a major federal government research effort called HEAL (Helping to End Addiction Long-term) which focuses on alternative ways to help patients cope with pain.

"There are lots of different pain conditions and they each need to be treated differently," Baker said. "Right now, we don't have a lot of options."

HEAL, which is sponsored by the National Institutes of Health, has identified several drugs with the potential to treat opioid addiction or to serve as opioid alternatives, as well as multiple non-drug therapies to help people manage pain.

"The goal of the NIH HEAL initiative is to provide scientific solutions to the national crisis of opioid misuse, overdose and addiction," Baker said.

Since its founding in 2018, HEAL contributes $500 million dollars annually to over 400 research projects.

Baker says the NIH has invested in a wide range of promising pain treatments. Specifically, scientists are studying a type of medicine called antibody therapy that binds to, and therefore blocks, the body's pain signals.

There are other medications designed to target each part of the nervous system, from its genetic material to the electrical signals that travel throughout the body and to the brain, registering pain as a sensation.

Meanwhile, some companies are taking a different approach, attempting to develop medical-grade versions of one of the oldest painkillers in history -- cannabis.

A doctor holds medical marijuana in one hand and pills in the other.

The hope is that cannabinoids will be effective but not addictive for patients dealing with chronic pain, according to Greg Gorgas, CEO of Artelo Biosciences, a research-stage cannabis company. But cannabinoids and other pharmaceutical options have yet to be proven in clinical trials, and they may only be one part of the solution.

Baker also says there is promising research into new medical devices that treat pain, including an ultrasound that stimulates the body's nervous system to disrupt pain transmission. But according to Baker, pain research extends far beyond drugs and medical devices.

Scientists are also studying mindful meditation, behavioral therapy, physical exercise and group rehabilitation for managing pain.

"We need better understanding of the biologic and genetic basis of these differences and embedding of these in our research and development plans," Gorgas said.

Someday soon, Baker said, "pain [will be] treated like other health conditions . . . so that means looking at the whole person and having a number of options to offer to individuals with pain and then working with them to find the treatment approach that works best for them."

Stephanie E. Farber, M.D. is a plastic surgeon from Pittsburgh, Pennsylvania and a contributor to the ABC News Medical Unit.

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The pain management revolution amid coronavirus and the opioid crisis - ABC News

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The rise of AI in medicine – Varsity Online

During the coronavirus pandemic, it's unlikely that AI doctors would work at all: the depth of moral decisions that need to be made simply can't be accommodated by a program.Vidal Balielo Jr.

By now, its almost old news that artificial intelligence (AI) will have a transformative role in medicine. Algorithms have the potential to work tirelessly, at faster rates and now with potentially greater accuracy than clinicians.

In 2016, it was predicted that machine learning will displace much of the work of radiologists and anatomical pathologists. In the same year, a University of Toronto professor controversially announced that we should stop training radiologists now. But is it really the beginning of the end for some medical specialties?

AI excels in pattern identification in determining pathologies that look certain ways, according to Elliot Fishman, a radiology and oncology professor at Johns Hopkins University and a key proponent of AI integration into medicine. Ultimately, specialties that rely heavily on visual pattern recognition notably radiology, pathology, and dermatology are those believed to be at the greatest risk. With the advent of virtual primary care services, such as Babylon, General Practice may also have to adapt in the future.

Pattern recognition functions

In January of this year, an article in Nature reported that AI systems outperformed doctors in breast cancer detection. This was carried out by an international team, including researchers from Google Health and Imperial College London on mammograms obtained from almost 29,000 women. Screening mammography currently plays a critical role in early breast cancer detection, ensuring early initiation of treatment and yielding improved patient prognoses. False negatives are a significant problem in mammography. The study found AI use was associated with an absolute reduction of 9.4% and 2.7% reduction in false negatives, in the USA and UK, respectively. Similarly, use of the AI system led to a reduction of 5.7% and 1.2% in the USA and UK respectively for false positives. The study suggested that AI outperformed the six radiologists individually, and was equivalent to the current double-reading system of two doctors currently used in the UK. These developments have already had perceptible consequences in practice: algorithms eliminate the need for a second radiologist when interpreting mammograms. However, critically, one radiologist remains responsible for the diagnosis.

AI can also be deployed to predict the cognitive decline that leads to Alzheimers disease... allowing early intervention and treatment

Earlier studies have also yielded similar results: a 2017 study published in Nature examined the use of algorithms in dermatology. The study, from Stanford University, involved an algorithm developed by computer scientists using an initial database of 130,000 skin disease images. When compared to the success rates of 21 dermatologists, the algorithm was almost equally successful. Likewise, in a study conducted by the European Society for Medical Oncology, it was found that AI exceeded the performance of 58 international dermatologists. A system reliant on a form of machine learning known as Deep Learning Convolutional Neural Network (CNN) missed fewer melanomas (the most lethal form of skin cancer), and misdiagnosed benign moles (or nevi) as malignant less often than the group of dermatologists.

Further applications in medicine

However, the prospects of AI technology extend beyond the clear applications in cancer diagnosis and radiology: recent studies have also demonstrated that AI may be able to detect genetic diseases in infants by rapid whole-genome sequencing and interpretation. Considering that time is critical in treating gravely ill children, such automated techniques can be crucial in diagnosing children who are suspected of having genetic diseases.

In addition, AI can also be deployed to predict the cognitive decline that leads to Alzheimers disease. Such computational models can be highly valuable at the individual level, allowing early intervention and treatment planning. FDA approval has also been granted to a number of companies for such technologies; these include Imagens OsteoDetect, an algorithm intended to aid wrist fracture detection. In addition, algorithms may have functions in other specialties such as anaesthesiology in monitoring and responding to physiological signs.

Limitations of AI

Despite the benefits that AI integration into clinical practice can provide, the technology is not without limitations. Machine learning algorithms are highly dependent on the quality and quantity of the data input, typically requiring millions of observations to function at suitable levels. Biases in data collection can heavily impact performance; for instance, racial or gender representation in the original data set can lead to differences in diagnostic abilities of the system for different groups, consequently leading to disparities in patient outcomes. Considering that certain pathologies, including melanoma, present differently between races and with different incidences, this can often lead to both later diagnoses and poorer outcomes for racial minorities, as found in a number of studies. Volunteer bias of the data collected is also a pertinent consideration; for example, although lactate concentration is a good predictor of death, this is not routinely measured in healthy individuals.

Considering the magnitude of what is at stake raises the question of whether it is appropriate to rely solely on machines without any human input.

Other key problems which may arise include how algorithms overfit predictions based on random errors in the data, resulting in unstable estimates which vary between data samples. In addition, clinicians may take a more cautious approach when making a diagnosis. Therefore, it may appear that a human underperforms compared to an algorithm since their actions may yield a lower accuracy in tumour identification, however this approach could lead to a lower number of critical cases missed.

Ultimately, the tendency for humans to favour propositions given by automated systems over non-automated ones, known as automation bias, may exacerbate these problems.

Attempts to replace GPs with AI have been unsuccessful

The success of AI integration into clinical practice crucially depends on the receptiveness of patients. Babylon, a start-up company based in the UK, was developed to give medical advice to patients using chat services. Although Babylon has been referred to as the biggest disruption in medical practice in years and a game-changer in UK media as quoted on Babylons website it is questionable how successful the service has been so far Babylon has been slow in recruiting patients and this month, it came under fire for data breaches. The fact that patients lose access to their regular GP if they sign up to Babylon is perhaps a key contributing factor for Babylons slow take-off. Therefore, it appears that human contact is highly valued by patients, after all, at least for some medical specialties.

Potential effect of COVID-19

The COVID-19 pandemic, with its requirements for social distancing, could potentially accelerate the use of AI. COVID-related restrictions could change the perception of patients about remote medical consultations, paving the way for increased receptiveness to primary healthcare apps including Babylon. The pandemic has also highlighted the inadequacies in fast internet access throughout the country. This may encourage increased government investment into broadband infrastructure, which may, in turn, facilitate broader penetration of AI technology. The increased pressure on the NHS may also encourage greater use of algorithms to delegate menial tasks as seen in specialties such as radiology already.

The future

AI will likely become an indispensable tool in clinical medicine, facilitating the work of professionals by automating mundane, albeit essential tasks. By reducing the medical workload, this could allow healthcare professionals to dedicate greater efforts to other aspects of their work, including patient interaction. As emphasised by the President of the Royal College of Radiologists, radiologists can instead focus more of their time on interventional radiology and in managing more complex cases to a much greater extent. Indeed, innovation may aid clinicians and augment their decision-making capabilities to improve their efficiency and diagnostic accuracy, however it remains doubtful whether technology can fully replace these roles. After all, considering the magnitude of what is at stake human life raises the question of whether it is appropriate to rely solely on machines without any human input. Therefore, it remains likely that human involvement will need to continue across medical specialties, although this may be in a reduced or adapted form.

Varsity is the independent newspaper for the University of Cambridge, established in its current form in 1947. In order to maintain our editorial independence, our newspaper and news website receives no funding from the University of Cambridge or its constituent Colleges.

We are therefore almost entirely reliant on advertising for funding, and during this unprecedented global crisis, we have a tough few weeks and months ahead.

In spite of this situation, we are going to look at inventive ways to look at serving our readership with digital content for the time being.

Therefore we are asking our readers, if they wish, to make a donation from as little as 1, to help with our running cost at least until we hopefully return to print on 2nd October 2020.

Many thanks, all of us here at Varsity would like to wish you, your friends, families and all of your loved ones a safe and healthy few months ahead.

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Multimillion pound scheme could make early diagnosis of liver disease a reality – The University of Manchester

The Challenge Fund recognises the value of bringing together university researchers, NHS experts and industry partners, large and small, to address major health challenges that no individual team could address on its own. The consortium is completed by Jiva.ai, Perspectum Diagnostics, Health Innovation Manchester, Trustech Smart Healthcare Ventures, Sectra, NorthWest EHealth, Octopus Ventures, and The Sollis Partnership. The project is also supported by the Academic Health Science Networks (AHSNs) in Greater Manchester (through Health Innovation Manchester) and the East Midlands, which will drive the clinical innovation and provide a route to NHS adoption of the new diagnostic approaches.

Liver disease is a silent killer as patients will often have no symptoms in early stages. In the UK almost four in 10 people suffer health problems due to their livers not functioning correctly.

A proportion of these patients develop liver scarring that can often progress to complete liver failure one of the UKs largest health challenges, for which there is currently no solution apart from transplantation.

Professor Neil Hanley, Director of Research and Innovation at MFT, and the ID LIVER Project Lead, said: I am thrilled that we have won this Innovate UK award, bringing together our best researchers in the university, NHS and technology sector. This would not have been possible without the research and research and development (R&D) support of global leaders, Roche Diagnostics and GE Healthcare and the enthusiasm of our SME partners. Transforming this aspect of healthcare is particularly important for the population of Greater Manchester as we have one of the UKs highest rates of advanced liver disease.

Prof Hanley, who is also a Professor of Medicine at The University of Manchester, added: By identifying liver disease in a primary care setting we are aligning the care of liver disease to the NHS Long Term plan, of prevention rather than treatment.

Bringing together clinical, academic and industrial R&D is also exactly what our Citylabs Innovation Campus is about, driving Manchester jobs and investment around health and life sciences.

Sir Mike Deegan CBE, Group Chief Executive of Manchester University NHS Foundation Trust, said: Manchester is uniquely positioned, through our devolved health and social care system, and the research and innovation infrastructure we have developed here, to tackle the challenge of liver disease.

The ID LIVER consortium represents what Manchester does best; working together to deliver innovations that benefit our patients. It shows the power of partnership working and reflects our ambition to become an internationally recognised force in integrating diagnostics.

Diagnostic tests brought together within ID LIVER include Perspectum Diagnostics magnetic resonance imaging technology LiverMultiScan, which provides quantitative measures associated with liver tissue characteristics.

Combining imaging-based metrics with other clinical data will allow healthcare professionals to make faster decisions, with greater confidence. By doing so, the team aims to identify patients with early-stage liver disease and those at risk of progressive life-threatening liver disease, including liver cancer.

By integrating clinical data with Jiva.ais artificial intelligence and data science, people at risk of progressive liver disease who would previously attend hospital for diagnosis, often too late for preventative or curative treatment, will now be identified earlier by hospital-led screening in their local community.

Professor Graham Lord, Vice-President and Dean of the Faculty of Biology, Medicine and Health, said: Prevention and early detection of disease is one of our priorities and this funding success will enable scientists in the Piper Hanley lab, part of the Universitys Wellcome Centre for Cell-Matrix Research, to take novel discoveries in liver fibrosis through to the clinic and out into the wider community for patient benefit.

Dr Abdullahi Sheriff, Strategic Partnerships and Solutions leader at GE Healthcare UK and Ireland commented: We are delighted to be working with the world class team from Manchester University NHS Foundation Trust and the consortium of partners on this ground breaking project. We believe in the power of partnerships in improving health outcomes and the transformative potential this partnership has to improve the early identification and treatment of liver disease and cancers at scale in the UK.

Geoff Twist, Managing Director UK and Ireland and Management Centre European Agents at Roche Diagnostics Ltd, said:We are thrilled with these funding awards, because it gives us the opportunity to work towards groundbreaking innovation in early diagnosis and because working in partnership is vital to achieve success in the health system. By bringing together the collective knowledge and expertise of these academic, medical and industry partners, these projects have the potential to impact patient care globally through new diagnostic solutions in cancer as well as thoracic and liver disease.

Pamela Healy OBE, chief executive at the British Liver Trust said: This is incredible news which could be the catalyst required to significantly improve early detection of liver disease in the UK. Three-quarters of patients are diagnosed in A & E when the disease is advanced and treatment options are limited and costly.

Increasing investment into early diagnosis is vital as if caught at an early stage, simple lifestyle changes or treatments can be enough for the liver to recover. This would save lives and could save the NHS millions by reducing the burden of advanced liver disease.

Science Minister Amanda Solloway said:

Our brilliant scientists and researchers in the North West are harnessing world-leading technologies, like AI, to tackle some of the most complex and chronic diseases that we face.

Tragically, we know that liver problems, which affect up to four in ten people, are often not picked up early enough.

The University of Manchester project we are backing today will help ensure more lives are saved and improved, by using state of the art technology to identify liver damage earlier and more accurately."

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Age-of-onset information helps identify 76 genetic variants associated with allergic disease. – Physician’s Weekly

Risk factors that contribute to inter-individual differences in the age-of-onset of allergic diseases are poorly understood. The aim of this study was to identify genetic risk variants associated with the age at which symptoms of allergic disease first develop, considering information from asthma, hay fever and eczema. Self-reported age-of-onset information was available for 117,130 genotyped individuals of European ancestry from the UK Biobank study. For each individual, we identified the earliest age at which asthma, hay fever and/or eczema was first diagnosed and performed a genome-wide association study (GWAS) of this combined age-of-onset phenotype. We identified 50 variants with a significant independent association (P<310-8) with age-of-onset. Forty-five variants had comparable effects on the onset of the three individual diseases and 38 were also associated with allergic disease case-control status in an independent study (n = 222,484). We observed a strong negative genetic correlation between age-of-onset and case-control status of allergic disease (rg = -0.63, P = 4.510-61), indicating that cases with early disease onset have a greater burden of allergy risk alleles than those with late disease onset. Subsequently, a multivariate GWAS of age-of-onset and case-control status identified a further 26 associations that were missed by the univariate analyses of age-of-onset or case-control status only. Collectively, of the 76 variants identified, 18 represent novel associations for allergic disease. We identified 81 likely target genes of the 76 associated variants based on information from expression quantitative trait loci (eQTL) and non-synonymous variants, of which we highlight ADAM15, FOSL2, TRIM8, BMPR2, CD200R1, PRKCQ, NOD2, SMAD4, ABCA7 and UBE2L3. Our results support the notion that early and late onset allergic disease have partly distinct genetic architectures, potentially explaining known differences in pathophysiology between individuals.

PubMed

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