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Diagnostics World | Researchers in Australia played a leading role in development of a DNA-based test to catch what short-read Illumina sequencing often misses: long and repetitive genetic variants implicated in about 40 late-onset neurodegenerative and neuromuscular conditions. These highly complex short tandem repeat (STR) expansion disorders, which have proven difficult to profile with any technology, can now be handily diagnosed with Oxford Nanopore Technology (ONT).
Apr 26, 2022
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Diagnostics World | At the height of the Omicron surge this winter, at-home rapid tests and PCR testing were hard to come by for everyone, but especially people with low-incomes, non-native English speakers, and immigrant communities. Along with more eligible people being vaccinated, an affordable, accessible NAAT test for the masses is the most effective way to live with the virus rather than being dominated by it again.
Apr 22, 2022
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Diagnostics World | A Stanford team led by Euan Ashley, professor of medicine, genetics and biomedical data science, sequenced a patient’s genome in a snappy five hours and two minutes on a PromethION platform from Oxford Nanopore, an achievement ratified by the Genome in a Bottle Consortium of the National Institute of Science and Technology.
Apr 20, 2022
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Diagnostics World | A blood test to help clinicians diagnose Alzheimer’s disease is “on the road” to effectively replacing cerebrospinal fluid (CSF) testing and PET scans for detecting Alzheimer’s pathology, according to Randall J. Bateman, M.D., a professor of neurology at Washington University School of Medicine and co-developer of the plasma protein assay. A commercial version of the test, PrecivityAD, is already being used extensively in clinical trials as well to evaluate patients in real-world settings.
Apr 19, 2022
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Diagnostics World News | Coagulation factor proteins in the blood might be incorporated into standard blood tests to rapidly detect sepsis soon after infection but before disease symptoms such as excessive inflammation and blood clotting have happened, suggests a research initiative that markedly increased the survival of mice.
Apr 14, 2022
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Diagnostics World | Following many years of collaborative patient-level data sharing across stakeholder groups, the European Medicines Agency (EMA) recently endorsed pancreatic islet autoantibodies as enrichment biomarkers for type 1 diabetes (T1D) trials focused on delaying or preventing the disease. The Qualification Opinion appears on both the EMA website and that of the Critical Path Institute’s (C-Path) Type 1 Diabetes Consortium (T1DC).
Apr 11, 2022
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Diagnostics World | For many clinicians, glycoproteomics is a new and unfamiliar field. However, this emerging “omic” has demonstrated potential to identify novel biomarkers and advance the field of diagnostics. Formerly confined to the research laboratory, the once daunting study of glycoproteomics (or “when sugar meet protein”) has been transformed by the use of machine learning.
Apr 8, 2022
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Diagnostics World News | Scientists at the Mayo Clinic are applying artificial intelligence (AI) to pick up auditory signals of heart health undetectable by the human ear, notably subtle acoustic changes that might not be intuitive or formally taught in medical school or during residency and fellowship training. Their vocal biomarker is based on the supposition that cardiovascular disease is likely expressed throughout the body at large, including the phonatory system.
Apr 7, 2022
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Diagnostics World | Researchers are currently exploring various approaches to pan-cancer testing, including the measurement of changes in DNA or RNA sequences, patterns of DNA methylation or fragmentation, levels of protein biomarkers, and antibodies, among others. For now, it remains to be seen which of these differing routes will lead to the most effective method or methods.
Apr 5, 2022
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Diagnostics World | Funding for PCR-based in-home medical diagnostics, microcarriers for cell-based assays, higher-order protein structural analysis, 3D genomics, AI-powered single-cell analysis, and more.
Mar 31, 2022
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Diagnostics World News | A genomic network model is used to identify aurora kinase inhibitor-sensitive lung tumors, AI seeks to improved prostate cancer diagnosis and prognosis, improved liver cancer detection is achieved with simple blood test, immunohistochemistry analysis standardization, and PacBio and Sick Kids in Toronto are working to identify genetic variants responsible for childhood disease using HiFi WGS.
Mar 30, 2022
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Diagnostics World News | Biology and technology have finally advanced to the point where a teentsy device for imaging the inside of the fallopian tubes is recognized both as an unmet clinical need and a plausible engineering feat. Introducing the falloposcope, intended to search for signs of early-stage ovarian cancer and currently undergoing pilot testing in volunteers having their tubes removed for reasons other than cancer to establish a baseline for normal.
Mar 29, 2022
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Diagnostics World News | As the global COVID-19 battle wages on, the ‘silent pandemic’ of antimicrobial resistance (AMR) continues to expand around the world. As the medical community continues to evaluate new technology-based approaches to fight AMR, microbial genome sequencing coupled with artificial intelligence (AI) are among the first topics brought up for discussion, and many laboratories are already embracing these new technologies.
Mar 25, 2022
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Diagnostic World News | Hundreds of clinical trials are underway testing therapies for treatment-resistant depression (TRD), yet until very recently there was not a clear definition of what is even being treated. But with newly proposed criteria to describe the condition, researchers and regulatory agencies have a basis for agreement that could help inform study design and potentially improve the lives of millions of people worldwide.
Mar 23, 2022
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Diagnostics World News | Merging biotech and infotech, life science company Karius has laid the groundwork for dramatically advancing molecular diagnostics for infectious diseases on a global scale, according to Chief Medical Officer (CMO) Brad Perkins, M.D. Using technology similar to what’s being used for detecting circulating tumor DNA, the Karius “liquid biopsy” test looks for microbial cell-free DNA (cfDNA) to accurately identify more than 1,000 pathogens from a single blood draw.
Mar 18, 2022
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Diagnostics World | In recent years, the race to develop a single test that can simultaneously screen for many cancers has heated up. Dozens of companies have thrown their hats in the ring, pursuing differing approaches to search for the very earliest signs of cancer. So where does this field currently stand? Where is it headed? And is extremely early cancer detection really possible?
Mar 16, 2022
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Diagnostics World News | Perinatal depression is an understudied and underappreciated mood disorder, but a group of researchers in Michigan are moving the field forward with the discovery of predictive biomarkers of the condition that could one day be used for the routine screening of high-risk women. Nearly one in five new mothers experience severe depression and an estimated 14% have suicidal thoughts—and pregnancy itself, being a major inflammatory event, can be the inducer.
Mar 10, 2022
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Diagnostics World News | Old-fashioned technology is the basis of a pioneering test that reliably predicts the spread or return of the deadliest form of skin cancer among the 20% of patients diagnosed with stage I or II melanomas that have not ulcerated. The new immunohistochemistry (IHC) test, developed by a team of scientists and clinicians at Newcastle University in the U.K., could offer relief to anxious patients as well as help shorten “ever-challenging waiting lists” for follow-up care as melanoma cases continue to rise.
Mar 8, 2022
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Diagnostics World News | Glycosaminoglycan profiling may enable all-cancer detection, maternal RNA expression profiling can predict preterm birth, Element Biosciences enters several new collaborations, and new COVID diagnostics are available.
Mar 2, 2022
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Diagnostics World News | During a plenary panel last week at the Molecular & Precision Med TRI-CON event, pharma and diagnostics company took on the challenges in developing companion diagnostics and how important these tests are to achieving our precision medicine aims.
Mar 1, 2022