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Search for: "genomic data" - 250 articles found

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Article • ECR 2026 imagines the future of the field

Enhanced by AI, but guided by humans: Radiology’s vision for 2050

Diagnostic imaging without actual images, but with sleek and shiny scanners; no more radiology and pathology departments, but virtual patient models and AI-enhanced surgical precision: At this year's European Congress of Radiology (ECR) in Vienna, two leading experts envisioned 2050 as a radically different future of medicine – less Grey's Anatomy, more Star Trek. They made it clear…

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Article • Digital pathology and AI

Finding new biomarkers to match the biological complexity of cancer

Advances in artificial intelligence and multimodal data integration are poised to revolutionise cancer diagnostics – but significant challenges remain before these technologies can be routinely deployed in clinical practice. Professor Manuel Salto-Tellez outlined the steps needed to bridge the gap between complex tumour biology and the relatively simple biomarkers currently available, speaking…

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Article • Personalised medicine

Gene-editing technologies: from lab to patient

Gene-editing technologies show great promise for medical treatments and research, with the potential to cure thousands of genetic diseases. At the 2025 World Medical Innovation Forum in Boston, leading experts explored the possibilities and challenges of these rapidly advancing tools. The case of Baby KJ Muldoon – an infant treated with a personalised CRISPR therapy developed in just seven…

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Article • On a shoestring budget

Bridging the resource gap for pathology in developing countries

Delivering a pathology service in resource-constrained locations and developing countries remains a challenge. Cost is a significant barrier, as is the availability of equipment, trained staff and technical and IT support can also hinder a desire from clinicians and pathologists to give their patients a high level of service to help their diagnosis and recovery. The subject was tackled in a…

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Article • Personalizing stroke care

Advancing genomic medicine from promise to practice with digital technology

Stroke patients in four NHS hospitals are now receiving genetic tests that determine whether a commonly prescribed drug will work for them – a breakthrough that could transform treatment for millions. Digital approaches are spearheading a drive to help make genomic medicine part of everyday care. The role of digital tools was a central theme at the HETT (Healthcare Excellence Through…

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Article • Artificial intelligence meets internal medicine

Medical AI: Enter ‘dea ex machina’

In the world of theatre, the ‘deus ex machina’, the god from the machine, is a dramaturgical trick to resolve seemingly unsolvable conflicts. Can artificial intelligence (AI) also be such a universal problem solver for internal medicine? At the Annual Congress of the German Society of Internal Medicine (DGIM), Dr Isabella Wiest explored the potential – and limitations – of AI helpers.

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News • Research on large foundation models

Reducing bias in pathology AI

A study highlights performance differences in computational pathology systems, depending on demographic profiles associated with histology images. The researchers also propose a way to fix this bias.

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Article • Joint action

A pan-European effort to tackle cancer and NCDs

This February, the Norwegian Institute of Public Health officially launched the ‘Joint Action on cancer and other non-communicable disease prevention project‘ (JA PreventNCD). In the four-year-initiative, 22 EU member states plus Iceland, Norway and Ukraine have joined forces to combat the increasing burden of non-communicable diseases (NCDs) across national borders.

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Article • Centralised image library and archive

From regional to national: digital pathology network transformation

Transforming a regional digital pathology network into a national programme across the UK has the potential to save the NHS around £100m a year. Such a network – one that sees a centralised digital pathology image library and archive, as opposed to individual hospitals having their own infrastructure and teams to manage it – can also offer a range of other benefits alongside significant cost…

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Article • AI-based personalized medical care

I³lung: EU launches lung cancer initiative

This summer, The European Commission launched I3lung, a new research initiative as a part of Horizon Europe, the EU’s research and innovation program. This research initiative aims to create a cutting-edge, decision-making tool to help clinicians and patients select the best lung cancer treatment based on each patient’s specific needs and circumstances.

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News • Alveolar rhabdomyosarcoma

Promising new treatment for deadly pediatric tumor

Alveolar rhabdomyosarcoma is a rare pediatric tumor. For more than 40 years there has not been any new development regarding treatment. Research led by Prof. Dr. Anton Henssen at Charité University Berlin has now identified a new therapeutic option, using a drug that is currently under investigation for other types of cancer.

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Article • Preventing clinical errors

Supporting transgender health in the clinical laboratory

Clinical laboratories need to be proactive to attract transgender patients for testing and to ensure that they are comfortable with the services provided. This issue is of great importance to the American Association for Clinical Chemistry (AACC), which conducted a scientific session on transgender health at its recent annual meeting in Chicago.

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News • DNA analysis

Should all babies have their genome sequenced at birth?

Genomics England, a government owned company, recently announced a pilot programme of whole genome sequencing to screen for genetic diseases in 200,000 healthy seeming newborns. But should every newborn baby have their whole genome sequenced? Experts debate the issue in The BMJ. Extensive clinical evidence has shown that screening for genetic diseases saves lives, and research has shown that it…

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Article • Cyberattacks and countermeasures

Healthcare cybersecurity in the EU and US: a technical, regulatory or political issue?

The pandemic has put a spotlight on the increasing role of cyberattacks and weaknesses in healthcare. In healthcare as in other industries, cybercrime does not stop at national borders. With this idea in mind, the US consulate general in Düsseldorf and the US embassy in Vienna recently invited interested parties to their Cybersecurity in Healthcare Briefing.

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News • 'CRyPTIC' research

Global tuberculosis study identifies genetic causes of drug resistance

Using cutting-edge genomic sequencing techniques, researchers at the University of Oxford have identified almost all the genomic variation that gives people resistance to 13 of the most common tuberculosis (TB) drug treatments. The Comprehensive Resistance Prediction for Tuberculosis International Consortium (CRyPTIC) research project has collected the largest ever global dataset of clinical M.…

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Sponsored • Demand for molecular LIMS increases

Lab interoperability is essential

Fast, flexible laboratory information management systems (LIMS) that cope with data and workflow complexities of molecular and genetic testing now work in laboratories internationally. Here, in the first in a new Lab Pinnacle Series, experts from the CliniSys Group, Sunquest Information Systems and Data Innovations (all owned by Roper Technologies), discuss the value of a LIMS in molecular and…

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News • Classifying subtypes

Breast cancer ‘ecotypes’ could lead to more personalised treatment

A team led by the Garvan Institute of Medical Research has revealed a new approach for classifying breast cancer subtypes based on their cell profile, which could help personalise treatments for patients. By analysing breast cancer biopsies from patients at Sydney hospitals, the researchers revealed more than 50 distinct cancer, immune and connective cell types and states, which could assign…

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Article • Skin cancer identification

Dermatology & AI: The need to quantify skin tones

Although artificial intelligence (AI) tools and smartphone apps that help identify suspicious moles and potential skin cancers are starting to proliferate, dermatology informatics has far to go before becoming a clinically adoptable technology. Many challenges need to be resolved, not least of which is the need for more image data representing people of colour.

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News • Regulatory issues

Genetic data privacy, the GDPR, and research needs: a delicate balance

The EU’s General Data Protection Regulation (GDPR) has created a great deal of uncertainty about how key requirements should be interpreted. This means that collaborators in international genetic research projects do not always agree on fundamental issues such as whether they are processing personal data, consent requirements under the GDPR and on what basis genetic data can be transferred…

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Article • Precision oncology

Personalized health and genomics: Minimizing collateral damage

A solid diagnosis has always been the first step on any patient’s journey to health. However, diagnostic categories are necessarily oversimplifications. In the last decades, medical professionals and scientists have begun to uncover the true variability in patients’ physiological and biochemical make-up that is the principal cause for individual variations in the way diseases present…

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News • Infection research

Understanding lung damage in Covid-19 patients

Covid-19 disease severity is determined by the individual patient’s immune response. The precise mechanisms taking place inside the lungs and blood during the early phase of the disease, however, remain unclear. Researchers from Charité – Universitätsmedizin Berlin, the Max Delbrück Center for Molecular Medicine (MDC) and Freie Universität Berlin have now studied the cellular mechanisms…

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Article • AI in public health

Inspiring women to create technology that impacts society

Some people change the narrative about technology and society. One of them is Nuria Oliver, Chief Data Scientist at Data-Pop Alliance, Chief Scientific Advisor at the Vodafone Institute, and Co-founder and Vice-president of the European Laboratory for Learning and Intelligent Systems (ELLIS). In an interview with HiE, she explains how she develops computational tools and uses artificial…

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News • Increased processing power

Personalizing cancer treatment with quantum computing

Cancer patients’ medical records can often comprise up to 100 terabytes of individual — and usually very heterogeneous — data, including blood and tumor values, personal indicators, sequencing and treatment data, and much more besides. Up to now, it has been virtually impossible to use this wealth of information efficiently due to a lack of appropriate processing mechanisms. As a result,…

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News • Tool to identify tumour mutations

Machine learning fuels personalised cancer medicine

The Biomedical Genomics laboratory at the Institute for Research in Biomedicine (IRB) Barcelona has developed a computational tool that identifies cancer driver mutations for each tumour type. This and other developments produced by the same lab seek to accelerate cancer research and provide tools to help oncologists choose the best treatment for each patient. The study has been published in the…

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Article • Heard at SIIM 2021

AI in radiology: unexpected benefits, unintended consequences

Artificial intelligence (AI) could match the impact of PACS on radiology. Covid-19 stimulated the development and testing of AI diagnostic-aiding tools in radiology, an unintended consequence of the pandemic. More image data sets have been created to train AI software – an unexpected benefit for radiology research.

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Article • Oncology

Pancreatic cancer - current challenges and future direction

Pancreatic cancer is one of the deadliest cancers in the world, and one of the most difficult to treat. In 2020, an estimated 495,000 individuals worldwide were diagnosed with pancreatic cancer and an estimated 466,000 died, according to statistics from the World Health Organization’s International Agency for Research on Cancer. Most patients with advanced disease die within a year of…

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News • Connectome analysis

Machine learning improves prediction of stroke recovery

An international team of scientists led by EPFL has developed a system that combines information from the brain’s connectome – the “wiring” between neurons – and machine learning to assess and predict the outcome of stroke victims. When blood flow to the brain is somehow reduced or restricted, a person can suffer what we know as a stroke (from “ischemic stroke” in medical jargon).…

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News • Oncology early detection tool

Blood test for 50+ types of cancer promising for screening

Final results from a study of a blood test that can detect more than 50 types of cancer have shown that it is accurate enough to be rolled out as a multi-cancer screening test among people at higher risk of the disease, including patients aged 50 years or older, without symptoms. In a paper published in the cancer journal Annals of Oncology, researchers report that the test accurately detected…

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News • Coronavirus epidemiology

A cloud-based software for the surveillance of SARS-CoV-2 variants

In-vitro-diagnostics company bioMérieux has launched Episeq SARS-CoV-2, a genomic software solution to support microbiology labs in identification and reporting from raw sequencing data related to SARS-CoV-2 variants. Viral mutation is a naturally occurring phenomenon leading to the emergence of variants that can have different characteristics. Today, a number of SARS-CoV-2 variants are…

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News • „Swarm Learning“

AI with swarm intelligence to analyse medical data

Communities benefit from sharing knowledge and experience among their members. Following a similar principle - called “swarm learning” - an international research team has trained artificial intelligence algorithms to detect blood cancer, lung diseases and Covid-19 in data stored in a decentralized fashion. This approach has advantage over conventional methods since it inherently provides…

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News • Mitochondria research

Colorectal cancer: Mutations in overlooked DNA could have huge impact on survival

DNA errors in the cell’s energy ‘factories’ increases the chances of survival for people with bowel cancer, also known as colorectal cancer, according to a new study. Studying how DNA errors (mutations) can drive cancer development, as well as help it adapt and evolve, has been a key focus of cancer research. But much of that focus has been on DNA found in the cell’s nucleus. Experts say…

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News • Diagnostics team-up

Cooperation to accelerate adoption of AI-powered digital pathology

Royal Philips and Ibex Medical Analytics announced a strategic collaboration to jointly promote their digital pathology and AI solutions to hospitals, health networks and pathology labs worldwide. The combination of Philips digital pathology solution (Philips IntelliSite Pathology Solution) and Ibex’s Galen AI-powered cancer diagnostics platform, currently in clinical use in Europe and the…

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News • Proof of concept

Surveillance system tracks Covid infection hotspots in hospital

A University of Manchester team has applied new techniques to detect and track the transmission of Covid-19 in hospital. The proof of concept system combines the movement and interaction of staff and patients with genomic sequencing of the virus, helping to signpost how best to improve patient pathways, staff movement and reduce risk. They identified hotspots within hospitals where patients and…

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News • Malignant Pleural Mesothelioma

AI to help fight asbestos-related cancer

International genomics research led by the University of Leicester has used artificial intelligence (AI) to study an aggressive form of cancer, which could improve patient outcomes. Mesothelioma is caused by breathing asbestos particles and most commonly occurs in the linings of the lungs or abdomen. Currently, only seven per cent of people survive five years after diagnosis, with a prognosis…

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News • Epidemilogical study shows

Covid variant B.1.1.7.: A lot more dangerous than the original form

The highly infectious variant of Covid-19 discovered in Kent, which swept across the UK last year before spreading worldwide, is between 30 and 100 per cent more deadly than previous strains, new analysis has shown. A pivotal study, by epidemiologists from the Universities of Exeter and Bristol, has shown that the SARS-CoV-2 variant, B.1.1.7, is associated with a significantly higher mortality…

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News • Covid-19 impact on vaccination

Antibiotic resistance could make diphtheria ‘major global threat’ again

Diphtheria – a relatively easily-preventable infection – is evolving to become resistant to a number of classes of antibiotics and in future could lead to vaccine escape, warn an international team of researchers from the UK and India. The researchers, led by scientists at the University of Cambridge, say that the impact of Covid-19 on diphtheria vaccination schedules, coupled with a rise in…

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News • A BOLD-100 approach

Novel metallodrug shows promise in tumour treatment

BOLD-100/KP1339 is a ruthenium-based anticancer agent that has been co-developed at the University of Vienna and which has shown promising results in clinical trials in cancer patients. However, the mode of action of this metal compound has not yet been fully elucidated. Researchers from the University of Vienna and the Medical University of Vienna have now been able to demonstrate that BOLD-100…

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News • Tiny changes, huge effects

Finding causes of disease with induced pluripotent stem cells

Induced pluripotent stem cells (iPSC) are suitable for discovering the genes that underly complex and also rare genetic diseases. Scientists from the German Cancer Research Center (DKFZ) and the European Molecular Biology Laboratory (EMBL), together with international partners, have studied genotype-phenotype relationships in iPSCs using data from approximately one thousand donors. Tens of…

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News • Mutations of SARS-CoV-2 & Co.

Tracking virus variants faster with sequencing

A global group of researchers is calling for better integration of viral genetics, bioinformatics, and public health to enable better pandemic response now and better pandemic preparedness in the future. In a comment piece in the journal Nature, an international collaboration of specialists in viral and genetic analysis, led by Swiss scientists Dr. Emma Hodcroft at the University of Bern and…

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Article • Images and patient data combined

Integrated radiomics improves clinical outcomes

Harnessing the power of radiomics, and adopting an integrated approach to combine imaging and patient data could lead to better clinical cancer outcomes. The move has opened the door for clinicians to explore a non-invasive approach to identify the heterogeneity of a tumour and more accurately target regions for biopsy. During a presentation at ECR 2021 in March, Professor Evis Sala will…

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Sponsored • Radiology collaboration

Improved workflow and a touch of Disney magic

Improving workflow is one of the major challenges that radiology departments face. The need to be more efficient, deliver timely and effective patient care, and keep an eye on costs are all factors that seem to be ever-present in the modern imaging department. With the added demands of the coronavirus pandemic as radiology departments continue to play a critical role in the fight against…

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Video • Portable testing solution

A corona lab that fits in a suitcase

The PCR test is the most accurate tool to identify SARS-CoV-2. However, valid results are often available only after days. Moreover, the laboratory must be well equipped, have trained personnel and sufficient financial resources. All of this is usually a problem in Africa. A portable suitcase could help. In cooperation with several African universities, scientists at Leipzig University have found…

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News • 53,831 genomes analysed

Rare diseases: huge dataset brings new insights

Researchers at the University of Maryland School of Medicine (UMSOM) and their colleagues published a new analysis from genetic sequencing data of more than 53,000 individuals, primarily from minority populations. The early analysis, part of a large-scale program funded by the National Heart, Lung, and Blood Institute, examines one of the largest and most diverse data sets of high-quality whole…

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News • Lessons learned from Covid-19

A 'blueprint' for preventing the next pandemic

Scientific and public health experts have been raising the alarm for decades, imploring public officials to prepare for the inevitability of a viral pandemic. Infectious epidemics seemingly as benign as "the flu" and as deadly as the Ebola virus provided ample warning, yet government officials seemed caught off guard and ill prepared for dealing with Covid-19.

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News • Viral sequencing

How SARS-CoV-2 spreads and evolves

The emergence of SARS-CoV-2 virus variants that are adding twists in the battle against COVID-19 highlight the need for better genomic monitoring of the virus, says Katia Koelle, associate professor of biology at Emory University.

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News • Genome study reveals

Blood group affects composition of intestinal microbiome

For several years, scientists worldwide have been investigating the extent to which microorganisms living in and on the human body influence central life processes and thus health and disease. Today they assume that there is a connection between the totality of the microbial colonization in the human body, called the microbiome, and the development of diseases. Chronic inflammatory bowel disease…

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News • "Faces" of the disease

Covid-19: researchers identify at least 5 variants

According to current studies, the Covid-19 disease which is caused by the SARS-CoV-2 coronavirus comprises at least five different variants. These differ in how the immune system responds to the infection. Researchers from the German Center for Neurodegenerative Diseases (DZNE) and the University of Bonn, together with other experts from Germany, Greece and the Netherlands, present these findings…

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News • RadClip

AI tool for MRI could transform prostate cancer surgery, treatment

Researchers at the Center for Computational Imaging and Personalized Diagnostics (CCIPD) at Case Western Reserve University have preliminarily validated an artificial intelligence (AI) tool to predict how likely the disease is to recur following surgical treatment for prostate cancer. The tool, called RadClip, uses AI algorithms to examine a variety of data, from MRI scans to molecular…

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Article • AI use in clinical diagnosis

Deep learning tool predicts tumour expression from whole slide images

A deep learning model to predict RNA-Seq expression of tumours from whole slide images was among the industry innovations outlined at the 7th Digital Pathology and AI Congress for Europe. Created by French-American start-up Owkin, the detail of how the company’s HE2RNA model provides virtual spatialization of gene expression was detailed to online delegates by senior translational scientist…

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Article • Digital pathology

An exciting new era for tissue microarrays

A new generation of tissue microarrays are delivering more efficient and time-effective solutions to answering complex clinical and scientific questions. Sitting at the core of this new approach is digital pathology, allowing specific and targeted analysis of small areas of tissue.

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News • Variant COH.20G/501Y

New Coronavirus strain discovered

Scientists at The Ohio State University have discovered a new variant of SARS-Cov-2, the virus that causes Covid-19. The new variant carries a mutation identical to the U.K. strain, but it likely arose in a virus strain already present in the United States. The College of Medicine researchers also report the evolution of another U.S. strain that acquired three other gene mutations not previously…

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News • Messenger RNA vaccines explained

Busting 8 common myths about Covid-19 vaccines

Even those who understand the scientific process, trust medical experts and know how important vaccines are for fighting infectious diseases might still have some questions or concerns about the new Covid-19 vaccines. Here, Thaddeus Stappenbeck, MD, PhD, helps set the record straight on 8 common questions, concerns and myths that have emerged about Covid-19 vaccines.

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News • Childhood cancer

Molecular super-enhancers determine progression of neuroblastomas

Childhood neuroblastomas display extreme differences in the way they develop: they can shrink spontaneously or spread aggressively to healthy tissue. It is molecular super-enhancers that activate the regulatory circuits that steer the tumor down one path or the other. These are the findings of research conducted by scientists from the Hopp Children's Cancer Center Heidelberg (KiTZ), the German…

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News • DNA analysis platform

Performing whole genome data analysis in just a few hours

Research and innovation hub in nanoelectronics and digital technologies, imec, announced elPrep5, the newest version of its software platform for DNA analysis. Obtaining identical results, elPrep5 is eight to 16 times faster than the genome analysis toolkit (GATK) — the widely-accepted standard reference. The imec platform encompasses the full analysis pipeline from data preparation to variant…

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Article • Corona demographics

Why Covid-19 registries for cancer patients are so important

Due to compromised immune systems cancer patients are at higher risk of contracting infections. How does cancer impact on patients who also contract Covid-19? To collect this data, four cancer registries, one in the EU, one in the UK, two in the USA, have been established. The first large, multi-institution study of the impact of Covid-19 was conducted in Wuhan, China, and presented at the…

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News • Brain tumor treatment network

'Federated learning' AI approach allows hospitals to share patient data privately

To answer medical questions that can be applied to a wide patient population, machine learning models rely on large, diverse datasets from a variety of institutions. However, health systems and hospitals are often resistant to sharing patient data, due to legal, privacy, and cultural challenges. An emerging technique called federated learning is a solution to this dilemma, according to a study…

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News • Light or severe progression

The dangerous dual role of the immune system in COVID-19

Infection with the novel coronavirus SARS-CoV-2 follows a highly variable course: some of those infected do not even notice it, while others become so seriously ill that their lives are placed at risk. Scientists from the Berlin Institute of Health (BIH) and Charité – Universitätsmedizin Berlin and their colleagues from Leipzig and Heidelberg have now discovered that the immune system has a…

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News • HNSCC diagnostics

Head and neck cancer: Novel prognostic biomarker could double survival

A recent study conducted by the Faculty of Medicine at The Chinese University of Hong Kong (CU Medicine) discovered a novel genetic biomarker which can predict the survival of head and neck cancer patients. There are over 0.7 million new head and neck squamous cell carcinoma (HNSCC) cases globally each year. However, currently there is no clinical implementation of any genetic biomarker to…

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Article • A more integrative approach to digital pathology

imCMS: The door to simple, cheap, reliable bio-stratification

Bringing molecular and digital pathology closer together through a more integrative approach can lead to clear advantages for diagnostic and research workflows. During the recent Digital Pathology and AI Congress (London), Professor Viktor Koelzer explored the benefits and paid particular attention to colorectal cancer (CRC).

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News • Molecular electronics

Biosensor chips for infection surveillance and more

Roswell Biotechnologies, Inc., a manufacturer of molecular electronics sensor chips, and imec, a research and innovation hub in nanoelectronics and digital technologies, announced a partnership to develop the first commercially available molecular electronics biosensor chips. These chips are the brains behind Roswell Technologies' new platform for DNA sequencing, to support precision medicine,…

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News • Coronavirus origins

Researchers crack COVID-19 genome signature

Using machine learning, a team of Western computer scientists and biologists have identified an underlying genomic signature for 29 different COVID-19 DNA sequences. This new data discovery tool will allow researchers to quickly and easily classify a deadly virus like COVID-19 in just minutes – a process and pace of high importance for strategic planning and mobilizing medical needs during a…

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News • New sensor tech

A more reliable way to early detect lung tumours

People who are at high risk of developing lung cancer, such as heavy smokers, are routinely screened with computed tomography (CT), which can detect tumors in the lungs. However, this test has an extremely high rate of false positives, as it also picks up benign nodules in the lungs. Researchers at the Massachussetts Institute of Technology (MIT) have now developed a new approach to early…

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News • Medulloblastoma

New insights into deadly brain tumours in children

The causes of 40 percent of all cases of certain medulloblastoma – dangerous brain tumors affecting children – are hereditary. A genetic defect that occurs in 15 percent of these children plays a key role by destabilizing the production and breakdown of proteins. The researchers suspect that protein metabolism defects could be a previously underestimated cause of other types of cancer.

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News • Oncology breakthrough

Blood test detects 50+ cancer types, often before symptoms show

Researchers have developed the first blood test that can accurately detect more than 50 types of cancer and identify in which tissue the cancer originated, often before there are any clinical signs or symptoms of the disease. In a paper published in the leading cancer journal Annals of Oncology, the researchers show that the test, which could eventually be used in national cancer screening…

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News • COVID-19 status

Whole genome sequencing to map coronavirus spread

The Government and the UK’s Chief Scientific Adviser have backed the UK’s leading clinicians and scientists to map how COVID-19 spreads and behaves by using whole genome sequencing. Through a £20 million investment, the consortium will look for breakthroughs that help the UK respond to this and future pandemics, and save lives. COVID-19 Genomics UK Consortium - comprised of the NHS, Public…

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Article • 'The Model Hospital' for 2030

The NHS blueprint for imaging delivery

A new strategy to transform imaging in the UK’s National Health Service (NHS) has been unveiled after a major data-gathering project to assess the present state of the service. The process will see the creation of a national strategy for imaging networks designed to deliver improved care and better value services for patients. Key to this has been ‘The Model Hospital’ concept – a digital…

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News • Zooming in

Breast cancer map reveals how mutations shape the tumour landscape

Scientists have created one of the most detailed maps of breast cancer ever achieved, revealing how genetic changes shape the physical tumour landscape. An international team of scientists, brought together by a £20 million Grand Challenge award from Cancer Research UK, has developed intricate maps of breast tumour samples, with a resolution smaller than a single cell. These maps show how the…

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News • Outbreak

A genome browser posts the coronavirus genome

Research into the novel Wuhan seafood market pneumonia virus, the deadly "coronavirus" that has forced the Chinese government to quarantine more than 50 million people in the country's dense industrial heartland, will be facilitated by the UC Santa Cruz Genomics Institute. The Genomics Institute's Genome Browser team has posted the complete biomolecular code of the virus for researchers…

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News • Genomic insights into 2019-nCoV

New coronavirus: largest meta-analysis yet answers important questions

Scientists at the University of Bologna have conducted the largest analysis of coronavirus 2019-nCoV genomes sequenced so far. This analysis confirms that the virus originates in bats and shows a low variability: the virus heterogeneity is low. At the same time, researchers identified a hyper-variable genomic hotspot in the proteins of the virus responsible for the existence of two virus…

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News • Whole-genome sequencing

First transmission of WGS data using quantum cryptography

Toshiba and the Tohoku University Medical Megabank Organisation (ToMMo) has succeeded in demonstrating the world’s first quantum cryptography transmission of whole-genome sequence data, with data volumes exceeding several hundred gigabytes. Since speeds for key distribution in quantum cryptographic communication technologies are currently about 10 Mbps at maximum, the speed at which data can be…

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News • MRI & machine learning

A look into the genome of brain tumors

Researchers at Osaka University have developed a computer method that uses magnetic resonance imaging (MRI) and machine learning to rapidly forecast genetic mutations in glioma tumors, which occur in the brain or spine. The work may help glioma patients to receive more suitable treatment faster, giving better outcomes. The research was recently published in Scientific Reports. Cancer treatment…

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News • Multiple myeloma therapy

Finding a formula for blood cancer vaccine

Researchers at the Icahn School of Medicine at Mount Sinai have discovered a way to move precision immunotherapy forward by using genomics to inform immunotherapy for multiple myeloma, a blood cancer, according to a study published in Clinical Cancer Research, a journal of the American Association for Cancer Research, in December. This is the first study to experimentally determine which…

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News • Single cell analysis & machine learning

scPred: Finding the ‘fingerprint’ of human cells

Researchers say a new method to analyse data from individual human cells could be a step-change for diagnosing some of the most devastating diseases, including cancer and autoimmune disease. By combining single cell analysis techniques with machine learning algorithms, a team led by researchers at the Garvan Institute of Medical Research has developed a method to ‘fingerprint’ human cells.…

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News • Emerging Technologies in Medicine

AI and Microlearning in focus at ETIM 2020

Complex challenges require interdisciplinary approaches. To find out at first hand which topics are of interest to experts is the key objective of ETIM 2020 (Emerging Technologies in Medicine), which is held from February 28-29 in Essen, Germany. Be there when experienced physicians, engineers and computer scientists talk about future topics in radiology. And after the lectures, take advantage of…

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News • Personalised prevention

‘Liquid health check’ could predict disease risk

Proteins in our blood could in future help provide a comprehensive ‘liquid health check’, assessing our health and predicting the likelihood that we will we will develop a range of diseases. Preventative medicine programmes such as the UK National Health Service’s Health Check and Healthier You programmes are aimed at improving our health and reducing our risk of developing diseases. While…

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News • Networking event

Future of Personalised Medicine Summit was a success

Next generation sequencing, big data, microeconomics and more: At the Future of Personalized Medicine (FOPM) Summit for Oncology in Munich, experts from the fields of Pharmaceutical, Biotechnology, Hospitals, and Academics came together to discuss the Future of Medicine. Group Futurista, the organizers of the 2-day networking event, are happy to announce that the summit was a huge success. Their…

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Article • Healthcare 2.0 by NVIDIA

Deploying AI in healthcare

With the right tools, physicians could transform the lives of patients and scientists. For Kimberly Powell, Vice President of Healthcare at NVIDIA, artificial intelligence is such a tool, and could meet the increasing demand for personalised medicine and next-generation clinics. ‘AI is the biggest technological breakthrough of our lifetime.’

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News • Biological aging

Wearables link insufficient sleep to cardiovascular disease risk

Getting a good night’s sleep is important and insufficient sleep has been linked to poor health in many studies. Analysing data collected from wearable trackers, researchers from the SingHealth Duke-NUS Institute of Precision Medicine (PRISM) and the National Heart Centre Singapore (NHCS) recently demonstrated that chronic sleep deprivation is associated with increased cardiovascular disease…

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Article • Man and machine

Robotic surgery is expanding

Standardisation of robotic surgery procedures is seeing increased usage and improved outcomes for patients and could also play a role in helping with the overall well-being of surgeons in terms of, for example, ergonomic benefits that could reduce repetitive strain injury (RSI) and back conditions. Richard Kerr from the Royal College of Surgeons (England) recently chaired the RCS Commission on…

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News • Interactive CVD risk calculator

KardioKompassi: Individualised cardiac disease prevention with genomic data

With KardioKompassi, researchers from the University of Helsinki have developed an interactive web tool that aims to predict and prevent cardiovascular disease. The application for patients and doctors uses traditional health information combined with genome information, including 49,000 DNA variations associated with the disease. Using this data, the risk calculator evaluates the risk of cardiac…

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News • Symbiosis study

Tracking down the microbiome

All living creatures – from the simplest animal and plant organisms right up to the human body – are colonised by numerous microorganisms. They are thus in a functional relationship with these microbes, and together form a so-called metaorganism. The investigation of this symbiotic cooperation between host organism and microorganisms is a key challenge for modern life sciences research. The…

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News • CRISPR 2.0

Is 'prime editing' the next step in gene editing?

A team from the Broad Institute of MIT and Harvard has developed a new CRISPR genome-editing approach by combining two of the most important proteins in molecular biology – CRISPR-Cas9 and a reverse transcriptase – into a single machine. The system, called “prime editing,” is capable of directly editing human cells in a precise, efficient, and highly versatile fashion.

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Article • Artificial intelligence

Superlative future assistance

As a member of the European Congress of Radiology (ECR) planning committee Professor Elmar Kotter suffered no serious challenge in pinpointing subject matter for the IT sessions. More than 300 submissions were received on artificial intelligence (AI). From the presentations, Kotter, Professor of Radiology and Senior Consultant at the Clinic for Diagnostic and Interventional Radiology, at the…

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Article • The Estonian Genome Project

Everyone’s DNA recorded for disease risks

When it comes to genetics, Estonia is considered a trailblazer, as the ambitious Estonian Genome Project (Eesti Geenivaramu) shows. Its objective is to test the genome of every citizen for the risk of diseases. Dr Jaanus Pikani talks about the initial difficulties which the genome project encountered and about its potential for Estonian – and possibly worldwide – healthcare.

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News • Watson on the case

Personalised cancer care through AI

The Geneva University Hospitals (HUG) is the first European university hospital to utilize IBM’s artificial intelligence (AI) technology to help uncover therapeutic options for cancer patients. HUG will use the IBM Watson Health’s precision oncology offering, Watson for Genomics, an AI tool that enables oncologists to provide patients with more personalized, evidence-based cancer care. Using…

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Article • Cancer of unknown primary

CUP: in search for the smoking gun

Cancer of unknown primary (CUP) can send radiologists on a frustrating scavenger hunt: metastases were detected but the primary cancer is nowhere to be seen. Professor Alwin Krämer, Head of the Clinical Cooperation Unit Molecular Haematology/Oncology at University Hospital Heidelberg and the German Cancer Research Center, explains strategies for dealing with CUP.

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News • The XX factor

XX chromosomes put women's hearts at risk

New research at the University of Kentucky has confirmed that the presence of XX sex chromosomes increases the amount of fat circulating in the blood, which leads to narrowing of the arteries and ultimately a higher risk of heart attacks and coronary artery disease. The research was published in Nature Communications. The leading cause of death in women is coronary artery disease (CAD), but women…

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Article • Methods, quality assurance, commercial providers issues

Molecular testing takes a huge leap

In terms of success in revolutionary cancer treatment, molecular genetic examination procedures have developed immensely over recent years. They now range from conventional polymerase chain reactions (PCR) or fluorescence-in-situ hybridisation (FISH) to Next Generation Sequencing (NGS) with analysis of the entire exome or genome (Whole-Exome, WES or Whole-Genome, WGS) and of the transcriptome…

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News • Personalised medicine

Why digital twins could be the ideal therapy testbed

Advanced computer models of diseases can be used to improve diagnosis and treatment. The goal is to develop the models to “digital twins” of individual patients. Those twins may help to computationally identify and try the best medication, before actually treating a patient. The models are the result of an international study, published in the open access journal Genome Medicine.

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News • XDR Klebsiella pneumoniae

Antibiotic resistance in Europe: Hospitals are part of the problem

New research has found that antibiotic-resistant strains of Klebsiella pneumoniae, an opportunistic pathogen that can cause respiratory and bloodstream infections, are spreading through hospitals in Europe. Certain strains are resistant to the carbapenem antibiotics that represent the last line of defence in treating infections and are therefore regarded as extremely drug resistant (XDR).

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Article • From generic to personalised, from empirical to evidence-based medicine

Hopes for hybrid imaging lie in AI

During a European Society of Hybrid, Molecular and Translational Imaging (ESHI) session at ECR 2019, three speakers discussed the role of artificial intelligence (AI) in hybrid imaging. While AI and machine learning is supporting clinicians using hybrid techniques such as PET/CT, MR/PET, or ultrasound and CT, challenges remain in ‘training the machines’ to add value to radiologists’ and…

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Article • Prostate cancer data

Mapping the inflammatory landscape

Image analysis of prostate cancer is a challenging area for clinicians. The disease shows a low mutation burden compared to melanoma and stomach cancer, for example, making morpho-molecular correlation more difficult, and there is often very low inflammation. With the role of tumour infiltrating lymphocytes in prostate cancer currently unclear – and with the advent of new approaches to prostate…

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News • Gene-editing

CRISPR baby mutation significantly increases mortality

A genetic mutation that a Chinese scientist attempted to create in twin babies born last year, ostensibly to help them fend off HIV infection, is also associated with a 21% increase in mortality in later life, according to an analysis by scientists from UC Berkeley. The researchers scanned more than 400,000 genomes and associated health records contained in a British database, UK Biobank, and…

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Article • Artificial Intelligence

Allying AI to biomarkers is powerful but validation remains challenging

Using artificial intelligence (AI) to push development of imaging biomarkers shows great promise to improve disease understanding. This alliance could be a game changer in healthcare but, to advance research, clinical validation and variability of results must be factored in, a prominent Spanish radiologist advises. In clinical practice efforts are already ongoing to apply AI to obtain new…

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News • Making the invisible visible

New method opens unexplored realms for liquid biopsies

Advancing technology is allowing scientists increasingly to search for tiny signs of cancer and other health issues in samples of patients’ blood and urine. These “liquid biopsies” are less invasive than a traditional biopsy, and can provide information about what’s happening throughout the body instead of just at a single site. Now researchers at the University of Michigan Rogel Cancer…

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Video • Personalized treatment

Genome analytics become affordable for daily hospital use

Today, on the occasion of the international DNA day, imec, a world-leading research and innovation hub in nanoelectronics and digital technologies, and its partners revealed their Genome Analytics Platform (GAP) platform, a unique platform that can perform a full genome analysis of 48 samples in only 48 hours and at an acceptable cost. The platform paves the way to genome sequencing as a daily…

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Article • Digital pathology & AI

Unleashing the power of digital pathology for precision medicine

Digital pathology, combined with the power of Artificial Intelligence (AI), is one of the most promising fields for the delivery of precision medicine. In the first keynote address for the 5th Digital Pathology & AI Congress (Europe) held in London last December, Professor of Pathology, Marilyn Bui, focused on how digital pathology is impacting on precision medicine. During her address,…

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Article • Carbapenemase producing enterobacteriaceae

Detecting drug-resistant CPE quickly is still a challenge

Early detection and confirmation of carbapenemase-producing enterobacteriaceae (CPE) are essential when choosing the appropriate antimicrobial therapy and to implement infection control measures. Here, a leading Spanish microbiologist reviews an arsenal of tools currently available to clinicians. Resistance to beta-lactam antibiotics in enterobacteriaceae (EBc) is due to one or more of these…

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News • Building a risk profile

Audiologists seek genetic link to tinnitus

Tinnitus, more commonly known as ringing in the ears, is a serious audiological and neurological condition affecting nearly 50 million Americans. Noise and music exposure are the predominant environmental risk factors for tinnitus. There is no known cure, and there are no FDA-approved medications developed specifically to treat it. The fact is, tinnitus is very common but not well understood. A…

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News • Mitochondria mystery solved

Researchers uncover key to greater efficacy in cancer treatment

Why do cancer cells react differently to treatments? Researchers from Mount Sinai and IBM have discovered a novel clue in explaining how cancer cells with identical genomes can respond differently to the same therapy. In a Nature Communications paper, researchers reveal for the first time that the number of mitochondria in a cell is, in great part, associated with how the cancer responds to drug…

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Article • Morphology, texture, function, metabolism

Radiomics will transform tumour characterisation

Tumours change over time – and not only in size. They also evolve genetically, mutate and spread through equally diverse metastases. Each is unique and present with a more or less complex structure, but rarely as a unified entity. Characterising them from A to Z and from detection to neutralisation remains a challenge for modern medicine.

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News • Men in danger

High testosterone could put your heart at risk

Having a genetic predisposition to high testosterone levels could play a role in the development of major heart problems in men, such as blood clots and heart failure, finds a study published by The BMJ. The findings may also have implications for men who take testosterone supplements to boost energy levels and sex drive. Some evidence suggests that genetically predicted (“endogenous”)…

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Article • Distributed learning

Radiomics on tap in 5-10 years

Keeping data within the hospital by sending the learning modules to each hospital database might prove a game-changer in radiomics, a leading Dutch researcher will show at ECR 2019. Radiomics, a field that aims to extract large amounts of quantitative features from medical images using data-characterisation algorithms, is a major advance for healthcare, according to Philippe Lambin, a radiation…

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Interview • Predicting the truth from hybrid imaging

Holomics: a trendy but complex topic

‘Is it possible to know whether a treatment will work before even starting it – in other words, to predict the truth? That’s the great promise of holomics, a concept that everyone has been involved in without even noticing,’ said leading French physicist Irène Buvat, from the In Vivo Molecular Imaging French lab, who is set to focus on this subject at ECR 2019. ‘The truth,’ said…

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News • Alarming results

Antibiotic resistance spreads faster than previously thought

By studying fish raised in aquaculture, researchers from the Helmholtz Zentrum München, the University of Copenhagen and the University of Campinas in Brazil have shed new light on the mechanisms by which antibiotic resistance genes are transferred between bacteria. According to the study published in the journal ‘Microbiome’, those mechanisms are more varied than previously thought. “In…

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News • Foodborne illnesses

Machine learning gets to the source of Salmonella

A team of scientists led by researchers at the University of Georgia Center for Food Safety in Griffin has developed a machine-learning approach that could lead to quicker identification of the animal source of certain Salmonella outbreaks. In the research, published in Emerging Infectious Diseases, Xiangyu Deng and his colleagues used more than a thousand genomes to predict the animal sources,…

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News • Accuracy improvement

Predicting prostate cancer with radiomics and machine learning

A team of researchers from the Icahn School of Medicine at Mount Sinai and Keck School of Medicine at the University of Southern California (USC) have developed a novel machine-learning framework that distinguishes between low- and high-risk prostate cancer with more precision than ever before. The framework, described in a Scientific Reports paper, is intended to help physicians—in particular,…

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News • AI, IT, data management

Digital attack on cancer

Several research groups at Berlin Institute of Health (BIH) are working on digitally combating cancer. The main goal is to combine and jointly evaluate existing information. With 500,000 new cancer cases every year in Germany alone, it is worthwhile comparing experiences with different diagnostic and treatment methods, thus allowing more patients to benefit from the most promising approaches. In…

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News • Pediatrics

Predicting the aneurysm risk for kids with Kawasaki disease

When Olivia Nelson was 3 years old, her parents noticed that she had a fever that wouldn’t get better. They brought her to a nearby hospital, where she spent about two weeks being screened for diseases. As doctors tried to find a diagnosis, a lymph node on Olivia’s neck became swollen. Alarmed and wanting an answer, the Nelsons asked to transfer to Seattle Children’s. “It was very…

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Article • Breast and skeletal health

AI is proving pivotal in women’s health solutions

Pete Valenti, Hologic’s division president of breast and skeletal health solutions, talks about how AI is driving innovation in breast health technology. Underpinning that evolution more recently has been the acquisition of two organisations – digital specimen radiography specialists Faxitron Bioptics and BioZorb marker manufacturer Focal Therapeutics.

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News • Precision medicine

Europe looks to cells for a healthier future

How can we detect the first signs of disease as early as possible? Could closer investigation at the cellular level help to quickly prevent disease progression through appropriate treatment? The European Union is now investing a million euros over a one-year period to devise the plan for a fundamentally new approach to understanding the constant changes within cells and their relationships to one…

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News • Glioblastoma

New actively personalized therapeutic vaccine for brain cancer

The prospect of an actively personalized approach to the treatment of glioblastoma has moved a step closer with the recent publication in Nature of favorable data from the phase 1 study GAPVAC-101, testing a novel therapeutic concept tailored to specific characteristics of patients’ individual tumors and immune systems. For the first time, the feasibility of such a highly personalized form of…

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News • Machine learning

Training a computer to classify breast cancer tumors

Using technology similar to the type that powers facial and speech recognition on a smartphone, researchers at the University of North Carolina Lineberger Comprehensive Cancer Center have trained a computer to analyze breast cancer images and then classify the tumors with high accuracy. In a study published in the journal NPJ Breast Cancer, researchers reported they used a form of artificial…

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News • Deadly DNA

Suicide: Is it in our genes?

Suicide is the 10th leading cause of death in the United States, claiming more than 44,000 people in the country every year, similar to the number of deaths caused by the opioid epidemic. Previous studies show that suicide tracks in families independent of the effects from a shared environment. Researchers at the University of Utah Health are using resources unique to the state to identify…

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News • Glioblastoma

Building a better model for brain tumours

A research team led by the University of Alabama at Birmingham is launching a study to find a better model for glioblastoma, a particularly devastating type of brain tumour, to help determine the most appropriate treatment modality. The $3.6 million, five-year U01 grant award is funded by the National Cancer Institute, one of the National Institutes of Health. The UAB team will join four other…

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News • Therapy

Could these special antibodies lead to HIV vaccine?

Around one percent of people infected with HIV produce antibodies that block most strains of the virus. These broadly acting antibodies provide the key to developing an effective vaccine against HIV. Researchers from the University of Zurich and the University Hospital Zurich have now shown that the genome of the HI virus is a decisive factor in determining which antibodies are formed.

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Sponsored • Innovation

Hematology: Advancements and future trends

While the role of the laboratory in disease diagnosis and management has expanded in recent years, causing an overwhelming rise in testing demands, the availability of skilled technologists and specialists has been diminishing. To meet the needs of an overworked and increasingly generalized workforce, today’s products not only must deliver more clinical data than ever before, but also must be…

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Article • Questioning the Genetic Diagnostics Act

Self-help healthcare or face a penalty?

The fact that genetic research can reveal hereditary diseases has been transferred to medical practice for some time and, since 2010, the Gene Diagnostics Act (GenDG) has regulated permissible DNA tests in medical diagnostics and pedigree in Germany. The procedure has great potential, says Professor Jochen Taupitz - but also great risks are associated with it.

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Article • Post-hypothesis analysis

The mechanics of radiomics

Confirming or infirming hypotheses has long driven scientific research; however, this traditional and costly approach is giving way to data-driven initiatives, according to Prof. Laure Fournier, a leading radiologist at Georges Pompidou European Hospital in Paris. “Usually we formulate the hypothesis first, then take an image and analyze it. We like that in France, it comes from Descartes. The…

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News • Faster diagnosis, reduced cost

The impact of whole genome sequencing on newborn babys in ICU

Early whole genome sequencing might bring hope for children who are born severely ill or who develop serious illness in the first few weeks of their life. Because these children are often difficult to diagnose, detection of diseases has considerable implications for their short and longer-term care. At the annual conference of the European Society of Human Genetics (ESHG) in Milan, Italy, the…

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News • Sepsis treatment

Bedside testing can prevent antibiotic-induced hearing loss in new-borns

More than a million neonatal deaths worldwide each year are estimated to be due to sepsis. In the UK there are approximately 90,000 admissions to neonatal intensive care units per year. Nearly all these patients receive antibiotic therapy during their hospital stay, but babies with a specific genetic change can suffer irreversible hearing loss as a result. Now, in a collaboration between…

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News • Analyzing free-floating DNA

Blood test shows potential for early detection of lung cancer

A test that analyzes free-floating DNA in the blood may be able to detect early-stage lung cancer, a preliminary report from the ongoing Circulating Cell-Free Genome Atlas (CCGA) study suggests. Lead study author Geoffrey R. Oxnard, MD, of Dana-Farber Cancer Institute: “There is an unmet need globally for early-detection tests for lung cancer that can be easily implemented by health-care…

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News • Photoacoustics

New method shows 3D images of cancer cells in the body

Making tumour cells glow: Medical physicists at Martin Luther University Halle-Wittenberg (MLU) have developed a new method that can generate detailed three-dimensional images of the body's interior. This can be used to more closely investigate the development of cancer cells in the body. The research group presents its findings in "Communication Physics".

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Article • Precision medicine

Promising radiomics for breast MRI

‘Breast cancer rates are continuously increasing, and we don’t yet have a means of prevention,’ said Dr Clemens Kaiser, from the Medical Faculty Mannheim, at Heidelberg University, who believes the only way to save more patients from death, after providing the best possible diagnostics procedures, is via precision medicine: the right treatment at the earliest possible time. The radiologist…

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Article • Assisting algorithms

Big data advances rare disease diagnosis and cancer therapy

Two major projects feeding on big data and based in Spain have recently come under the spotlight: Mendelian, a tool to expedite rare diseases diagnosis, and Harmony, an EU platform that aims to improve targeted therapy in haematological cancer. Rare diseases affect as many as 6% of the Spanish population. Although this percentage is high, these conditions are individually rare, which complicates…

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News • Life expectancy

Mole-rats might teach us how to become old and healthy

Humans and other mammals have a lot in common. Depending on race, 80 to 98% of mammalian genetic makeup is identical to the human one. Nevertheless, the variety of life expectancy among mammals is huge; and so far, it was unclear, which impact the genetic makeup has on a species’ life span. In rodents, differences in life expectancy and morbidity during aging are particularly high: Despite…

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News • Abdominal fat

For women with kidney cancer, belly fat matters

Belly fat affects the odds of women surviving kidney cancer but not men, according to a new study by researchers at Washington University School of Medicine in St. Louis. Half of female kidney cancer patients with substantial abdominal fat at the time of diagnosis died within 3 1/2 years, while more than half of women with little belly fat were still alive 10 years later, the researchers found.…

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News • DNA research

Stroke: largest-ever genetic study provides new insight

An international research group, including scientists at the University of Maryland School of Medicine, studying 520,000 people from around the world has identified 22 new genetic risk factors for stroke, tripling the number of gene regions known to affect stroke risk. The results show that stroke shares genetic influences with other vascular conditions, especially blood pressure, but also…

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