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Search for: "genomic data" - 321 articles found

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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 • 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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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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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 • Cutting the energy supply

Disrupting cellular pH balance blocks pancreatic cancer

Scientists at Sanford Burnham Prebys have found a new way to kill pancreatic cancer cells by disrupting their pH equilibrium. The study, published in Cancer Discovery, reports how depleting an ion transport protein lowers the pH to a point that compromises pancreatic cancer cell growth. Pancreatic cancer cells—like all cancer cells—have a constant need for energy to support their growth and…

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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. The approach…

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Article • Cardiology

AI identifies genes linked to heart failure

The Queen Mary University of London team applied an artificial intelligence (AI) technique to analyse the heart MRI images of 17,000 healthy UK Biobank volunteers. They found that genetic factors accounted for 22-39 per cent of variation in the size and function of the heart’s left ventricle, the organ’s main pumping chamber. Enlargement and reduced pumping function of the left ventricle can…

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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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News • Bacterial virus

Machine learning detects inuviruses

A team led by scientists at the U.S. Department of Energy (DOE) Joint Genome Institute (JGI) developed an algorithm that a computer could use to conduct a similar type of search in microbial and metagenomic databases. In this case, the machine “learned” to identify a certain type of bacterial viruses or phages called inoviruses, which are filamentous viruses with small, single-stranded DNA…

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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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News • Encyclopaedia

'Fingerprint database' helps to identify new cancer culprits

Scientists from King's and Cambridge have developed a catalogue of DNA mutation ‘fingerprints’ that could help doctors pinpoint the environmental culprit responsible for a patient’s tumour – including showing some of the fingerprints left in lung tumours by specific chemicals found in tobacco smoke. Our DNA, the human genome, comprises of a string of molecules known as nucleotides. These…

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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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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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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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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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News • Research

Zika virus proteins inhibit brain development

In healthy individuals, the Zika virus causes flu-like symptoms. If a pregnant woman becomes infected, the unborn child can suffer from severe brain abnormalities as a result of mechanisms that have not yet been explained. A study by the Technical University of Munich (TUM) and the Max Planck Institute of Biochemistry (MPI-B) shows that Zika virus proteins bind to cellular proteins that are…

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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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News • Memory-Driven Computing

Time lapse for dementia research

The German Center for Neurodegenerative Diseases (DZNE) is just starting the operation of a new high-performance computer in Bonn. It should significantly accelerate the evaluation of biomedical data and thus lead to faster progress in dementia research. For this the computer uses the principles of the novel computer architecture "Memory-Driven Computing". Time is running out: Dementias…

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News • Screening tumor samples

A molecular map of childhood cancers

Researchers led by Professor Stefan Pfister from the "Hopp Children's Cancer Center at the NCT Heidelberg" (KiTZ) have been able to draw an extremely detailed molecular map of childhood cancers. In close collaboration with the German Cancer Consortium (DKTK) and the Society for Pediatric Oncology and Hematology (GPOH), they screened almost 1,000 tumor samples from 24 cancer types for…

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Article • Microbleed detection

A new hope for Alzheimer's prediction

New information on dementia biomarkers is emerging, as increasing results from population studies become available. However, although the list of risk factors lengthens, the value of these predictors, and more generally the cause of disease, remain to be determined, according to Gabriel Krestin, professor and chairman of the Department of Radiology & Nuclear Medicine at Erasmus MC, University…

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News • Follow-ups

Early countermeasures against ineffective cancer therapies

What effect does a particular cancer medicine or radiation therapy have on patients? To find out, physicians use CT images to determine whether a tumor’s size changes during the course of treatment. In the PANTHER project, a joint team of experts aims at gaining further valuable information from these images. In the future, doctors will be able to find out at an early stage whether a cancer…

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News • Large study

Five novel genetic changes linked to pancreatic cancer risk

In what is believed to be the largest pancreatic cancer genome-wide association study to date, researchers at the Johns Hopkins Kimmel Cancer Center and the National Cancer Institute, and collaborators from over 80 other institutions worldwide discovered changes to five new regions in the human genome that may increase the risk of pancreatic cancer. The new findings represent one more step toward…

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Article • Initiative

Knowledge dissemination key to defeating cancer?

Half of cancers can be avoided if institutions would exchange knowledge, according to Joxel García, executive director of the University of Texas MD Anderson Cancer Center in Houston, who opened the Center’s meeting in Madrid in October 2016. Technology has progressed enormously and there has never been that much knowledge of cancer to prevent it and find treatment tools.

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News • Discovery

‘Hijacker’ drives cancer in some patients with high-risk neuroblastoma

Researchers have identified mechanisms that drive about 10 percent of high-risk neuroblastoma cases and have used a new approach to show how the cancer genome “hijacks” DNA that regulates other genes. The resulting insights may help scientists develop more effective therapies, including precision medicines. The research involved investigators at St. Jude Children’s Research Hospital;…

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News • Neurogenesis

These genetic ‘switches’ determine our brain development

UCLA researchers have developed the first map of gene regulation in human neurogenesis, the process by which neural stem cells turn into brain cells and the cerebral cortex expands in size. The scientists identified factors that govern the growth of our brains and, in some cases, set the stage for several brain disorders that appear later in life. The human brain differs from that of mice and…

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News • Oncology and critical care treatment

GE and Roche partner up for integrated digital diagnostics platform

GE Healthcare has entered into a strategic, long-term partnership with Roche to jointly develop and co-market digital clinical decision support solutions. The partnership will initially focus on products that accelerate and improve individualized treatment options for cancer and critical care patients. The two companies aim to develop an industry-first digital platform, using advanced analytics…

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News • Clinical value

Kidney disease diagnosis made easier through DNA sequencing

DNA sequencing could soon become part of the routine diagnostic workup for patients with chronic kidney disease, suggests a new study from Columbia University Medical Center. The researchers found that DNA sequencing could identify the genetic cause of the disease and influence treatment for many patients with chronic kidney disease.

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Article • Early detection

From detection to treatment response

Imaging is increasingly useful in detecting colorectal cancer (CRC) liver metastases and evaluating how these lesions respond to treatment. Dr Daniele Regge reviewed all the latest advances during last September’s Madrid meeting of the European Society of Medical Oncology (ESMO)

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News • Direct from whole blood samples

LiDia demonstrates rapid and sensitive BSI identification

DNAe, the inventor of semiconductor-based genomic analysis technologies, and the developer of a new, game-changing test for bloodstream infections that can lead to sepsis announced new data on its test for bloodstream infections, LiDia BSI. The data demonstrates the ability of the LiDia BSI closed cartridge-based test to rapidly identify low levels of bacterial and fungal pathogens and resistance…

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Article • Gene editing

CRISPR system embeds images in DNA

A research team in the United States has developed a revolutionary technique that has encoded an image and short film in living cells. Scientists at the Wyss Institute for Biologically Inspired Engineering and Harvard Medical School (HMS) used CRISPR gene editing to encode the image and film in DNA, using this as a medium to store information and produce a code that relates to the individual…

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Article • Abbreviated MRI

Seeking a view through the dense breast

Despite rigorous quality assurance of breast cancer screening programs, ‘both, over- and under-diagnosis of breast cancer is a challenge,’ says leading radiologist Christiane K Kuhl, from the Department of Diagnostic and Interventional Radiology, at the University of Aachen, Germany. ‘Mammography is a good screening test – but has its limitations especially, but not only, in women with…

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News • Oncotype

Updated breast cancer guidelines reinforce genomic testing

Genomic Health announced that the 15th St. Gallen International Breast Cancer Conference Expert Panel endorsed the use of genomic tests in early-stage breast cancer and recognised the Oncotype DX Breast Recurrence Score test for its prognostic ability as well as its value in guiding treatment decisions on adjuvant chemotherapy for patients with early-stage, endocrine sensitive, invasive breast…

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News • Structural insights

Cancer cells may streamline their genomes to proliferate more easily

Research from the Stowers Institute provides evidence suggesting that cancer cells might streamline their genomes in order to proliferate more easily. The study, conducted in both human and mouse cells, shows that cancer genomes lose copies of repetitive sequences known as ribosomal DNA. While downsizing might enable these cells to replicate faster, it also seems to render them less able to…

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News • Understanding procedures

Researchers create ‘Rosetta Stone’ to decode immune recognition

Scientists from St. Jude Children’s Research Hospital and Fred Hutchinson Cancer Research Center have developed an algorithm that functions like a Rosetta Stone to help decipher how the immune system recognizes and binds antigens. The research should aid development of more personalized cancer immunotherapy and advance diagnosis and treatment of infectious diseases.

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Article • Infections

Start of advanced genetic antibiotic resistance testing

Curetis, a developer of next-level molecular diagnostic solutions, today announced that the Company has established Ares Genetics GmbH, a wholly owned subsidiary of Curetis GmbH. Ares Genetics builds on GEAR GEnetic Antibiotic Resistance and Susceptibility Database and associated assets recently acquired for Siemens. The Company will use GEAR to investigate the genetic foundations of antibiotic…

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News • Baldness

Why do shorter men go bald more often?

Short men may have an increased risk of becoming bald prematurely. An international genetic study under the leadership of the University of Bonn at least points in this direction. During the study, the scientists investigated the genetic material of more than 20,000 men. Their data show that premature hair loss is linked to a range of various physical characteristics and illnesses. The work has…

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Article • Breast Cancer

Mammography screening with MR

Breast cancer screening is traditionally a mammography – ultrasound business but abbreviated protocols could enable more women to be imaged with MR and receive treatment earlier, a leading researcher will show during the annual Garmisch MR meeting.

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    News • Deep Learning

    Deep Learning predicts hematopoietic stem cell development

    Autonomous driving, automatic speech recognition, and the game Go: Deep Learning is generating more and more public awareness. Scientists at the Helmholtz Zentrum München and their partners at ETH Zurich and the Technical University of Munich (TUM) have now used it to determine the development of hematopoietic stem cells in advance. In ‘Nature Methods’ they describe how their software…

    News • iCAGES

    New precision medicine tool helps optimize cancer treatment

    Columbia University Medical Center (CUMC) researchers have created a computational tool that can rapidly predict which genes are implicated in an individual’s cancer and recommend treatments. It is among the most comprehensive tools of its kind, and the first that incorporates a user-friendly web interface that requires little knowledge of bioinformatics.

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    Article • MR Fingerprinting

    Radiologists will become computer technicians

    ‘Magnetic resonance imaging is a very dynamic field,’ declared Professor Siegfried Trattnig, head of the Centre of Excellence for High Field MRI in the Department of Biomedical Imaging and Image-guided Therapy, at Vienna Medical University. Indeed, this September, two mega trends emphasised by Trattnig – the shift from qualitative to quantitative imaging and Big Data – dominated the 33rd…

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    Article • Personalised medicine

    Many issues must be resolved

    Hardly any topic has been discussed as broadly as personalised medicine, with countless stakeholders, ministries and organisations involved. That’s good news says Professor Angela Brand, Professorial Fellow at the Maastricht Economic and Social Research Institute on Innovation and Technology (MERIT) and Professor at the Department of Health, Medicine and Life Sciences at Maastricht University.…

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    Article • Management

    Big Data power will improve healthcare

    Big Data sits at the heart of addressing the challenges that will lead to a more sustainable health and social care system. Hospitals and health systems must embrace a Big Data approach if they are to deliver better care for patients according to Dr Mark Davies, Medical Director of healthcare analytics company MedeAnalytics. Report: Mark Nicholls

    News • Market

    Curetis Acquires Rights to GEAR Database

    Curetis announced the signing of an asset acquisition agreement with the Siemens Technology Accelerator GmbH (STA). Under the terms of the agreement, Curetis has acquired sole commercial rights from STA to the GEAR GEnetic Antibiotic Resistance and Susceptibility platform and database with all its content, numerous GEAR-related patents and patent applications, as well as all corresponding…

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    Interview • Personalized medicine

    “We have to establish a digital health network”

    Healthcare and business professionals as well as scientists consider Big Data a promising technology to advance medical research and patient care. “Big Data analysis allows us to better tailor therapies based on the individual patient’s status, that is to implement personalized healthcare,” says Dominik Bertram, Development Manager at SAP and Head of the development field “Personalized…

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    News • Research

    New Biomarker for cancer immunotherapy?

    The Ligand PD-L1 is one of the most important targets for cancer immunotherapy with checkpoint inhibitors. But not all tumors have sufficient quantities of PD-L1 ligands on their surface. Scientists from the German Cancer Consortium (DKTK) have now shown that different types of cancer possess different quantities of PD-L1-Gen copies. Genetic analysis of the PD-L1 gene may in the future help to…

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    Sponsored • Fat data

    The Digital Path (ology) to Personalized Medicine

    Though it is the underlying science that drives diagnosis and treatment decisions, pathology is an often overlooked field. As part of the health continuum, as the turning point for treatment, as a new source for research and discovery – in all these ways, the power of pathology has gone unnoticed. However, the industry is slowly coming to realize its potential in transforming care, knows Hans…

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    News • Epidemics

    Open Science to track virus outbreaks

    In recent years, we have witnessed multiple epidemics of viral diseases such as Ebola or Zika. Rapid targeted intervention is key to containment. Real-time data integration and analysis can help public health authorities to maximize efficacy of intervention strategies. Dr. Richard Neher from the Max Planck Institute for Developmental Biology, Germany and Dr. Trevor Bedford from the Fred…

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    News • Genetic mutations

    New neurodevelopmental syndrome identified

    A multicenter research team led by Columbia University Medical Center (CUMC) has discovered a new neurodevelopmental syndrome and the genetic mutations that cause it. The discovery is an important step toward creating targeted therapies for individuals with this syndrome, which causes severe developmental delays, abnormal muscle tone, seizures, and eye complications.

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    Article • Datasets

    Benefits from The Cancer Genome Atlas

    Last year, scientists at the University of California San Francisco (UCSF) revealed that by measuring the proportion of both immune and cancerous cells in tumours, or ‘tumour purity,’ clinicians could more precisely predict the success of certain precision therapies. A key aspect of the discovery was access to over 10,000 samples constituting 21 different cancers.

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    Article • Resistance

    Last resort antibiotic under treat

    Data presented at the European Congress of Clinical Microbiology and Infectious Diseases diseases has highlighted how a recently-discovered mechanism could mean one of the last-resort antibiotics is under threat. Evidence put before ECCMID suggested the genetic mechanism allowing bacteria to develop and transfer resistance to colistin has been present in several countries around the world –…

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    News • Cancers

    Computer program uncovers hidden genomic alterations

    Cancer is rarely the result of a single mutation in a single gene. Rather, tumors arise from the complex interplay between any number of mutually exclusive abnormal changes in the genome, the combinations of which can be unique to each individual patient. To better characterize the functional context of genomic variations in cancer, researchers at University of California San Diego School of…

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    Interview • Genom

    I looked into my genes and changed some habits

    “These dates we have access to a lot of genetic information which had previously not been available to us. For the individual, this can provide options for action with regards to leading a healthier lifestyle or to try and prevent diseases,” knows Dr. Theodor Dingermann. The senior professor of the Goethe University in Frankfurt am Main has had his own genome decoded. In parts, the result…

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    News • Discovery

    Viruses flourish in guts of healthy babies

    Bacteria aren’t the only nonhuman invaders to colonize the gut shortly after a baby’s birth. Viruses also set up house there, according to new research at Washington University School of Medicine in St. Louis. All together, these invisible residents are thought to play important roles in human health.

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    Interview • Systems medicine

    IT is a resource just like water or energy

    Systems medicine – the interdisciplinary field incorporating biochemical, physiological and environmental interactions in the study of human body systems as part of an integrated whole – draws heavily on the technological advances in information technology (IT). New ways to use data impact on healthcare and society, says Professor Dr Heyo Kroemer, Dean of the Medical School, Georg August…

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    Article • Network science

    Discovering what causes diseases

    Systems biology allows the mathematical visualisation through graphs and networks of complex body processes such as disease development. The aim is to improve understanding processes and triggers of diseases, so as to access and repair a damaged network. ‘We are still approaching this issue with a lot of naivety and underestimate the complexity of biological systems, and therefore of…

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    Article • Pathology

    Unlocking imaging potential

    Automated image analysis shows significant potential within histopathology to help identify novel and subtle prognostic features. UK expert Dr Peter Caie also believes such image analysis can turn aspects of histopathology from a traditionally semi-quantitative field into a fully quantifiable and standardised science. However, he also points out that challenges remain before the full potential is…

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    News • Infectious disease

    Ancient origins of deadly Lassa Virus

    Working as part of an international team in the United States and West Africa, a researcher at The Scripps Research Institute (TSRI) has published new findings showing the ancient roots of the deadly Lassa virus, a relative of Ebola virus, and how Lassa virus has changed over time.

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    Article • Diagnostic toolkit

    New cardiac genetic testing panels

    As new cardiac genetic testing panels become available, cardiologists have been warned not to lose sight of the importance of comprehensive clinical evaluation. While genetic testing is helping to identify more people at risk of inherited conditions, experts stress they are only part of the diagnostic toolkit.

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    News • Genetics

    Big Data and the social character of genes

    A new study at the University of Haifa has used “big data” analytical methods to reveal the “social character” of genes – a phenomenon in certain diseases whereby genes operate jointly rather than independently. “The problem is that the possible number of combinations of different genes is enormous, and it is almost impossible to examine them all effectively and reliably,” the…

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    News • Gene defects

    Cancer brake failure leads to brain cancer

    Tumor suppressor genes protect against cancer. Until now, scientists have had to perform complex experiments to detect whether or not a mutation or loss of this gene type does, in fact, cause cancer. Scientists from the German Cancer Research Center (DKFZ) have now used a new gene technology method called CRISPR/Cas9 technology for this detection.

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    Article • Human resources

    A pathology workforce fit for the future

    The UK pathology sector faces numerous challenges as it strives to create a future medical laboratory workforce. As in many divisions of the National Health Service (NHS), this area has an ageing population yet must evolve against a backdrop of fast-developing technologies, emerging science, financial constraints and the challenge of working in tandem with the private sector. Report: Mark…

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    News • Healthcare Technology

    IBM Invests in Modernizing Medicine

    To accelerate the adoption of Watson cognitive computing technologies in healthcare, IBM (NYSE: IBM) today announced an investment in Modernizing Medicine, a provider of cloud-based technologies that help physician specialists create, consume and apply medical information in new ways to transform point of care decision support.

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    Article • Digital pathology

    Biopsy results

    Gideon Ho, CEO and co-founder of Singapore-based HistoIndex is confident: ‘After a biopsy a patient waits in a hospital bed, but now, instead of waiting a couple days until doctors know how to treat this patient, we can deliver results while the patient is still in the hospital.’ Report: John Brosky

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    A pathologist in your pocket

    We live in a connected world, a very different world than it was a decade ago, said Eric Topol MD. Mobile devices, wearable devices are driving a creative revolution, reducing costs of healthcare, increasing patient access to health information.

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    New trends in Pathology Informatics

    For several decades, pathologists worldwide have been under increasing pressure to handle a steady increase in laboratory tests with a steady decrease in the amount of financial and staff resources. Add to this the escalating volume of increasingly complex, sophisticated testing and the importance of pathology informatics is evident.

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    Oocyte modification

    USA - Oocyte modification to eliminate inherited mitochondrial defects in a human embryo was the subject of a globally scrutinised Food and Drug Administration (FDA) hearing held in February.

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    Healthcare delivery on the move

    The recent Swiss eHealth Summit, a Healthcare Information and Management Systems Society (HIMSS) event supported by key organisations, drew 600 leaders from hospitals, policymaking and the industry. Among the key topics: how IT enables access to information in a mobile environment, referred to by speaker Uwe Buddrus as mHealth.

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    EHFG 2011 - ‘There are too many unnecessary operations!’

    Participants at European Health Forum Gastein 2011 (EHFG) agreed: the tendency in Germany and Austria is to operate far too soon (particularly for hip, knee and disc surgery), and many surgical interventions are unnecessary, posing a particular and increasingly urgent problem especially in industrialised countries. Hans-Christian Pruszinsky reports

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    Personalized medicine could help to save 100 billion Euros

    Despite huge increases in spending over the last three decades, progress in dealing with the most frequent and burdensome diseases is appalling. The EU Flagship Pilot IT Future of Medicine (ITFoM) could remedy that. The flagship‘s investments of 1 billion euros in the course of the next decade are expected to save up to 100 billion euros per year in health expenditures in the future.

    AACC publishes program for 2011 annual meeting

    2011 The American Association for Clinical Chemistry (AACC) has published the program for its 2011 Annual Meeting being held July 23 – 28 at the Georgia World Congress Center in Atlanta, GA. This year the Annual Meeting features almost 300 individual educational events in a variety of formats. Hot topics for 2011 include cancer, obesity, diabetes, and healthcare reform.

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    1000 Genomes Project publishes analysis of completed pilot phase

    Small genetic differences between individuals help explain why some people have a higher risk than others for developing illnesses such as diabetes or cancer. In the journal Nature, the 1000 Genomes Project, an international public-private consortium, published the most comprehensive map of these genetic differences, called variations, estimated to contain approximately 95 percent of the genetic…

    AACC 2010

    California, USA: 20,000 visitors and 700 manufacturers showing products in almost 2000 booths at the American Association for Clinical Chemistry (AACC) annual meeting (July 5-29, 2010) underlined the importance of this, the world’s largest gathering of clinical laboratory professionals.

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    The impact of diagnostic IT

    At a meeting hosted by Siemens at AACC 2010, an expert panel shared perspectives on IT in the clinical lab. Representatives from Henry Ford Hospital (Detroit, MI), Alegent Health (Omaha, NE) and Johns Hopkins Bayview Medical Centre (Baltimore, MD) spoke about the increasing importance of IT in helping today’s lab to meet the challenges of cost containment, quality of care, increasing workload,…

    TROCAR is on track

    The 3-year Translational Research On Combating Antimicrobial Resistance (TROCAR) project, a consortium of 14 European institutes, has completed its first year of molecular study of high-risk antibiotic-resistant bacteria. With expertise ranging from medical microbiology to computational analysis, this network of excellence is on track to identify and target the resistant and multi-resistant…

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    Ideaworks

    Many years ago, five self-made millionaires were interviewed about their work. The last question posed was: ‘Is there one thing to which you could attribute your enormous success?’ Without hesitation, four answered: ‘Energy!’ The fifth quipped, ‘Luck’. By the law of averages energy is thus a vital ingredient. However, there are many other essential assets and luck is the least of them.

    Epigenomics

    The UK’s Babraham Institute, which conducts biomedical research, has established a ‘high throughput’ epigenomics sequencing facility to improve understanding of healthier ageing.

    International Cancer Genome Project starts in Germany

    Brain tumors are the primary cause of cancer mortality in children. Even if a cure is possible, young patients often suffer tremendously from the stressful treatment which can be harmful to the developing brain. Therefore, there is an urgent need for target-oriented, gentle treatment methods. The most important childhood brain tumors are medulloblastoma, which is diagnosed in approximately one…

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    Parkinson's Disease: genetic risk factors identified

    Two genes containing mutations known to cause rare familial forms of parkinsonism are also associated with the more common, sporadic form of the disease where there is no family history, researchers have found. An International study reveals common gene variants in people of European descent.

    MINDACT

    Researchers around the globe are studying whether a genomic test, developed with micro-array technology, is superior to traditional methods in assessing aggressive breast cancer, and therefore could spare a considerable percentage of women from the onslaught of chemotherapy The Breast International Group (BIG) in Brussels, Belgium, manages TRANSBIG, an international network created to avoid…

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    Genome Structural Variation Consortium used Roche technology

    Roches NimbleGen´s CGH microarray platform was used to generate the highest-resolution map of human genome copy number variation. Recent advances in microarray technology have led to the discovery of extensive copy number variation in the human genome, including DNA copy number gains (duplications), losses (deletions), and multiallelic or complex rearrangements.

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    Arrays to detect genomic disorder

    Roche reports that, using its NimbleGen CGH arrays, researchers* have identified a recurrent reciprocal genomic rearrangement of chromosomal region 17q12 in foetal samples with congenital anomalies that is also associated with paediatric renal disease and epilepsy.

    21st Century lab automation

    Laboratory automation of the 21st century demonstrates, every second, that in the 30 years since labs took their first tentative steps towards automation it has advanced by orders of magnitude - and moved far beyond the ambitions of its progenitors. Driven by the imperatives of greater efficiency, more precision and round-the-clock operation, ever more sophisticated forms of automation are now…

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    Know your enemy

    Along with MRSA and ESBL bacteria, Clostridium difficile is causing a growing problem. Epidemics of a new C. difficile strain have already occurred in hospitals in North America, England and the Benelux countries.

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    Expanding medical horizons

    This was the motto of the ECR 2007 in Vienna, where a group of high-ranking experts discussed diseases of the 21st century; research competition between the US and Europe; the conditions needed to progress leading medical R&D - moderated by Congress President Professor Christian J Herold.

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