Join southeast Asia’s premier laboratory and healthcare exhibition and take part in the free educational sessions, attend the CME accredited conferences, visit the scientific poster zone and explore so much more at Level 4 at Suntec Singapore Convention & Exhibition Centre.
www.medlabasia.com
https://clinlabint.com/wp-content/uploads/sites/2/2020/06/clinlab-logo.png003wmediahttps://clinlabint.com/wp-content/uploads/sites/2/2020/06/clinlab-logo.png3wmedia2020-08-26 09:31:582021-01-08 11:08:21Be sure to attend Medlab Asia & Asia Health, Singapore, 26-28 March 2019
Nova Biomedical has been awarded a multi-year group purchasing agreement for critical care blood gas analysers from Premier. This agreement provides Premier members access to Nova’s new Stat Profile Prime Plus® critical care blood gas analyser. Prime Plus features maintenance-free sensor technology to provide 20 essential critical care tests including BUN, creatinine, ionized magnesium, blood gases, electrolytes, metabolites, hematology, and co-oximetry. Prime Plus also provides new and patented, non-lysing whole blood co-oximetry technology, along with automated quality control (QC), powerful data management, bidirectional connectivity, and extensive cybersecurity protection. The current agreement allows Premier members, at their discretion, to take advantage of special, pre-negotiated pricing and terms for Prime Plus analysers and consumables in addition to Nova’s 10-test Prime analysers. “We are pleased that Premier has awarded a group purchasing agreement to our innovative, maintenance-free Prime Plus,” said John Britt, Director of Corporate Accounts for Nova. “This agreement allows Premier members access to the entire Stat Profile Prime platform including its new flagship analyser, Prime Plus. Prime Plus introduces innovative technology that expands critical care testing with unique assays and eliminates sensor and co-oximeter maintenance, all of which improves uptime and reliability while reducing costs. Prime Plus represents the latest in critical care testing technology and further demonstrates Nova’s leadership and history of innovation.” Prime Plus incorporates Nova’s innovative, maintenance-free sensor technology with individual MicroSensor cards, calibrator cartridges, and quality control cartridges. This design eliminates sensor and co-oximeter maintenance, improves analyser uptime, and reduces testing costs for the compact and easy-to-use Prime Plus. Premier is a leading healthcare improvement company, uniting an alliance of approximately 4,000 U.S. hospitals and 165,000 other providers.
www.novabiomedical.com
https://clinlabint.com/wp-content/uploads/sites/2/2020/06/clinlab-logo.png003wmediahttps://clinlabint.com/wp-content/uploads/sites/2/2020/06/clinlab-logo.png3wmedia2020-08-26 09:31:582021-01-08 11:08:21Nova Biomedical awarded multi-year critical care blood gas analyser agreement from Premier
T2 Biosystems, maker of rapid diagnostic technology to aid in the detection of blood stream infections to prevent sepsis, will host an integrated symposium at the European Congress of Clinical Microbiology & Infectious Diseases (ECCMID) in Amsterdam, Monday, April 15, 16:00-18:00 CET. The symposium, “Rapid diagnostics direct from whole blood: a solution for fast and appropriate antimicrobial therapy”, will feature leading clinicians and users of T2Direct Diagnostics™ who will discuss integrating the Company’s T2Bacteria® and T2Candida® Panels in clinical practice, and the product’s potential to significantly improve antimicrobial stewardship and infectious disease management in clinical settings. The panels are the first and only FDA-cleared and CE-marked tests that identify the most serious bacterial and fungal pathogens directly from blood sample in just three to five hours, without waiting for a positive blood culture —which can take one to six or more days. These capabilities allow for faster species identification, enabling the potential for faster targeted treatment, de-escalation of empiric therapy and improved patient outcomes. All T2Direct DiagnosticsTM panels are run on the T2Dx® Instrument using a patient’s blood sample with validated clinical sensitivity of 91 to 96% and specificity of 98 to 99%. The direct from blood capability is enabled by the proprietary T2MR-powered T2Dx® Instrument which can detect organisms at concentrations as low as 1 CFU/mL. This represents a thousandfold increase in sensitivity compared to products that detect species from positive blood culture bottles where the number of cells is typically in the range of 10,000 to 10,000,000 CFUs/mL. T2 Biosystems recently received FDA Breakthrough Designation for the T2ResistanceTM Panel, a diagnostic panel that can detect 13 resistance genes from both gram-positive and gram-negative pathogens from a single patient blood sample in 3 to 5 hours. The T2Resistance Panel is also run on the T2Dx instrument and is expected to be CE-marked and available in Europe by the end of 2019, and offered as a Research Use Only product in the United States before yearend. T2 Biosystems will showcase its latest innovations at ECCMID at Booth #1.22.
www.T2Biosystems.com
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Scientists have discovered a new gene variation that causes motor neurone disease (MND) in a novel biological pathway that until now hasn’t been linked with neurodegeneration. The findings for the pioneering study, conducted by a team of researchers from the Sheffield Institute for Translational Neuroscience (SITraN) and the NIHR Sheffield Biomedical Research Centre (BRC), could potentially help to identify completely new ways of treating MND which currently affects over 5,000 people in the UK. MND, also known as Amyotrophic Lateral Sclerosis (ALS), is a devastating neurodegenerative disorder that affects the nerves – motor neurones – that form the connection between the brain and the muscles. The messages from these nerves gradually stop reaching the muscles, causing them to weaken, stiffen and eventually waste. The progressive disease affects a person’s ability to walk, talk, eat and breathe. Approximately 10 per cent of MND cases are inherited but the remaining 90 per cent are caused by complex genetic and environmental interactions which are not well understood – this is known as sporadic MND. There is currently no curative therapy.
Dr Johnathan Cooper-Knock, NIHR Clinical Lecturer at the University of Sheffield’s Institute for Translational Neuroscience (SITraN), explained the impact of the ground-breaking research which is helping scientists to understand the fundamental genetic basis of MND. “This new gene does not fit into a biological function that we already know is associated with MND,” said Dr Cooper-Knock. “That means that this finding has potential to identify completely new ways of treating MND. “The mutations found in patients were shown to be toxic to neurons and, when expressed in zebrafish they produced muscle weakness consistent with MND. This work strongly suggests that the mutations are the cause of MND in the patients where they were identified.” During the study, researchers genetically sequenced tissue from two related patients with an unknown familial form of MND and found a mutation in the substrate binding region of a glycosyltransferase enzyme called GLT8D1. They went on to screen a larger sample of 103 patients, five of whom had this mutation. The study revealed a new genetic subtype of MND.
University of Sheffieldhttps://tinyurl.com/y4bwpra4
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EKF Diagnostics recently announced that it had signed a private label distribution agreement with McKesson Medical-Surgical Inc. for the Company’s hand-held reagent-free hemoglobin analyser, the DiaSpect Tm. McKesson is the oldest and largest healthcare company in the U.S., serving more than 50% of U.S. hospitals and 20% of physicians. The DiaSpect Tm is the world’s fastest hemoglobin analyser and is sold in the U.S. since February 2019 by McKesson under its own branded line, as the McKesson Consult® Hb analyser. The palm-sized, lightweight DiaSpect Tm provides users in a variety of care settings with laboratory accurate hemoglobin measurements (precision: CV ≤1%) within two seconds of its whole blood-filled cuvette being inserted for analysis. This ensures immediate and robust hemoglobin results for patient health checks and anemia screening at the point of care. Based on its FDA categorization, DiaSpect Tm can be used in a range of environments, as well as by a broad scope of healthcare personnel. Essential for this, it is highly user-friendly requiring minimal training. For example, the analyser’s sampling microcuvette has been designed to collect a blood sample from any angle without forming air bubbles. The user simply collects a capillary or venous blood sample of 10 µL in the cuvette before inserting straight into the analyser. Also making it simple for POCT use, DiaSpect Tm is factory calibrated against the HiCN reference method in accordance with ICSH. It is ‘always on’ and ready to use with no re-calibration or maintenance necessary.
www.ekfdiagnostics.com
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Researchers at the School of Medicine have identified an unexpected contributor to rheumatoid arthritis that may help explain the painful flare-ups associated with the disease. The discovery points to a potential new treatment for the autoimmune disorder and may also allow the use of a simple blood test to detect people at elevated risk for developing the condition. The arthritis discovery originated in the lab of UVA’s Kodi Ravichandran, PhD, and was facilitated by combining his team’s resources and expertise with that of Inova researcher Thomas Conrads, PhD, through a THRIV UVA-Inova seed grant. The new findings about rheumatoid arthritis came in an unexpected fashion. Sanja Arandjelovic, PhD, a research scientist in the Ravichandran group, was seeking to better understand what causes the inflammation associated with inflammatory arthritis when she noted that deleting a gene called ELMO1 alleviated arthritis symptoms in mice. This was particularly surprising because Arandjelovic and Ravichandran initially thought that loss of ELMO1 would result in increased inflammation. “This was a complete surprise to us initially,” recalled Ravichandran, chairman of UVA’s Department of Microbiology, Immunology and Cancer Biology. “I love those kinds of results, because they tell us that, first, we did not fully comprehend the scientific problem when we began exploring it, and, second, such unexpected results challenge us to think in a different way. Given that rheumatoid arthritis affects millions of people worldwide, we felt the need to understand this observation better.” Digging deeper into the unusual outcome, the researchers determined that ELMO1 promotes inflammation via their function in white blood cells called neutrophils. Ravichandran described neutrophils as the body’s “first line of defence” because they sense and respond to potential threats. “Normally they are good for us, against many bacterial infections,” he said. “But also there are many times when they produce a lot of friendly fire that is quite damaging to the tissues – when they hang around too long or there are too many neutrophils coming in – in this case, infiltrating into the joints during arthritis.” The researchers also discovered that there is a natural variation in the ELMO1 gene that can prompt neutrophils to become more mobile and have the potential to invade the joints in greater numbers and induce inflammation. (The potential blood test would detect this variation.) Here things take a particularly cool turn: Normally, doctors are reluctant to try to block the effect of genes like ELMO1 in people, because such genes can play diverse roles in the body. But Ravichandran believes that ELMO1 is different. “ELMO1 partners with very specific set of proteins only in the neutrophils but not in other cells types we tested,” he said. “So, presumably, you may be able to affect only a select cell type.” This latter result came about from a collaborative study where Conrads’ group at Inova performed sophisticated analysis of ELMO1 proteomic partners in neutrophils, many of which also have previously known links to human arthritis. This provided further validation for the role of ELMO1 in rheumatoid arthritis. Encouragingly, blocking ELMO1 in lab mice alleviated arthritis inflammation without causing other problems, Ravichandran noted. His laboratory is now seeking to identify drugs that could inhibit the function of ELMO1 and is also designing a test for the variation (also called polymorphism) in the ELMO1 gene. “This is another example of how fundamental basic research can lead to novel discoveries on clinically relevant problems that affect a large number of people,” Ravichandran said.
University of Virginia newsroom.uvahealth.com/2019/02/07/surprise-rheumatoid-arthritis-discovery-points-to-new-treatment/
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A genetic discovery will make treatment for Crohn’s disease and ulcerative colitis safer, by identifying patients who are at risk of potentially deadly drug side effects. A ground-breaking and large-scale NHS research collaboration, led by the University of Exeter and the Royal Devon & Exeter NHS Foundation Trust, has discovered a gene mutation that allows the identification of patients at risk of a drug side effect, allowing clinicians to tailor alternative treatments to these individuals. This finding will reduce the risk of drug side effects caused by treatment with thiopurines (consisting of azathioprine and mercaptopurine). This group of drugs is commonly used for the treatment of autoimmune and inflammatory diseases. Crohn’s disease and ulcerative colitis (collectively known as inflammatory bowel disease –IBD) are incurable lifelong conditions that affect approximately 1 in 150 people in the UK. The main symptoms are urgent diarrhoea, often with rectal bleeding, abdominal pain, profound fatigue and weight loss. The condition disrupts people’s education, working, social and family life. Drugs to suppress the immune system are the mainstay of treatment, however more than half of patients with Crohn’s Disease and about 20 per cent of patients with ulcerative colitis will require surgery at some point. The lifetime medical costs associated with the care of a person with IBD are similar to the costs of treating diabetes or cancer. About a third of patients with IBD are treated with a thiopurine drug, however, approximately 7 per cent of patients develop an adverse reaction called “bone marrow suppression”. This means that the body’s immune system is less able to fight infection and patients are at risk of sepsis. Previous studies have identified mutations in a gene known as TPMT, which predisposes patients to thiopurine-induced bone marrow suppression. Clinicians either adjust the dose or avoid thiopurines altogether if routine tests show that patients are likely to carry faulty versions of the TPMT gene. However, only a quarter of patients who suffer from bone-marrow suppression have abnormalities in TPMT, suggesting that other genes may be involved. Through the National Institute of Health Research Clinical Research Network, 82 NHS hospitals in the UK recruited patients to the study. In addition patients were recruited from international collaborators in the Netherlands, USA, Australia, France, New Zealand, South Africa, Malta, Denmark, Sweden, Italy and Canada. The Exeter IBD Research Group also recruited UK patients via the Medicines and Healthcare products Regulatory Agency (MHRA) Yellow Card Scheme, which collects reports of patients who have experienced complications of treatment. DNA from approximately 500 patients with IBD that suffered thiopurine-induced bone marrow suppression and 680 controls (IBD patients who had received thiopurines and had no history of bone marrow suppression), were analysed to identify genes possibly associated with this adverse drug reaction. The researchers found an association between mutations in a gene called NUDT15 and bone marrow suppression. This gene mutation had previously only been thought important in patients of East Asian descent. Chief Investigator of the study, Dr Tariq Ahmad, of the University of Exeter Medical School, said: “In the largest genetic analysis into the side effects of thiopurine drugs we’ve discovered variation in a gene that can help us identify who is susceptible to thiopurine-induced bone marrow suppression. In line with the NHS 10 year plan to increase personalised medicine, testing for this genetic abnormality prior to prescribing thiopurine drugs will reduce the risks to patients, and costs to the NHS, associated with this potentially serious drug side effect.
Thermo Fisher Scientific and NX Prenatal Inc., a recognized leader in the detection, monitoring and management of pregnancy-related complications using novel exosome-based methods, have entered into a collaboration to develop clinical mass spectrometry-based proteomics assays to monitor fetal health in utero and assess the risk of adverse outcomes, including preterm birth and preeclampsia. This new collaboration recognizes the challenges faced by medical professionals who have few tools available for noninvasive risk stratification for adverse pregnancy outcomes. By combining NX Prenatal’s NeXosome platform with Thermo Fisher’s leading liquid chromatography-mass spectrometry (LC-MS) instrumentation, the workflows can address the reliability, accuracy and precision of the analytical solutions currently available to clinical scientists. "Our collaboration with NX Prenatal is aiming to enable us to better evaluate maternal and fetal biomarkers during pregnancy that correlate with adverse outcomes, such as preterm birth," said Brad Hart, senior director, clinical research, chromatography and mass spectrometry, Thermo Fisher Scientific. "The co-development of a commercially available clinical mass spectrometry-based proteomics assay has the potential to provide a diagnostic solution to both clinical scientists and medical professionals offering more confidence in the evaluation of novel biomarkers that can support a safe delivery and healthy future for mother and baby." "At NX Prenatal, we are developing novel assays and noninvasive early warning systems to detect subtle molecular changes in the maternal-fetal environment, all with the goal of improving the rate of healthy pregnancy outcomes," said Brian D. Brohman, CEO of NX Prenatal. "Our collaboration with Thermo Fisher Scientific brings together our novel NeXosome platform with their leading analytical technology with the goal of optimizing clinical mass spectrometry-based workflows, in an effort to provide the precision necessary for personalized diagnostic solutions to improve health outcomes for both mother and child." The unique NeXosome technology is used to enrich maternal blood samples for microparticles, such as exosomes, which play key roles in maintaining certain balances between the mother and fetus during pregnancy. Aberrations in these balances have been shown to correlate with the likelihood of adverse pregnancy outcomes. Merging the NeXosome platform with Thermo Fisher LC-MS technology has the potential to generate fast, efficient and accurate data for the analysis of exosome-derived proteomic biomarkers, which may lead to increased information about maternal and fetal health during pregnancy. Ultimately, the analysis has the potential to support obstetrical care decisions in conjunction with traditional clinical assessments. www.thermofisher.com
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The world’s first genetic test for Huntington’s disease using nanopore-based DNA sequencing technology is now available at Guy’s and St Thomas’ NHS Foundation Trust. The test could drastically cut the waiting time for the most complicated cases of Huntington’s disease and has huge potential for other genetic disorders in the future.
The breakthrough was achieved by a collaboration between Viapath, the NIHR Guy’s and St Thomas’ Biomedical Research Centre and its academic partner King’s College London, and the London South Genomic Laboratory Hub.
The team used MinION DNA sequencing devices made by Oxford Nanopore Technologies that provide results much faster than traditional testing methods. They have shown for the first time that these sequencing devices can meet the stringent, internationally recognized standards for use in clinical laboratories, providing ‘proof-of-principle’ that this new technology can be used in the NHS.
The MinION is a small hand-held device that ‘decodes’ individual strands of DNA in real-time. It identifies any changes in the DNA sequence and then matches these to a library of known genetic sequences to detect presence of the genetic disorder. Most current technologies provide segments of DNA sequence that need to be analysed at a later date, which leads to a longer wait for results.
Huntington’s disease is an inherited neuro-degenerative disorder which stops parts of the brain working properly, with symptoms worsening over time, and is usually fatal within 20 years. Currently individuals with symptoms of Huntington’s disease have a blood test and can wait up to four weeks for the result.
Dr Deborah Ruddy, consultant clinical geneticist at Guy’s and St Thomas’, said: “This technology means that test results for people with symptoms of Huntington’s disease could be reduced to less than one week. We are now conducting research to determine where else this new technology could speed up diagnosis of other genetic disorders.
“Although there is no cure for Huntington’s disease as yet, treatment and support can help reduce some of the problems it causes. The technology can reduce the distress that patients and families experience whilst waiting for results, and also administer treatments and make support available to patients sooner than previously possible.”
This is the first time that Oxford Nanopore Technology has been used in an NHS laboratory accredited by the United Kingdom Accreditation Service (UKAS), which requires the technology to meet stringent quality control standards and produce reliable results on every sample.
Professor Jonathan Edgeworth, Viapath’s Medical Director,said: “This advance was made possible through a research partnership involving front-line clinicians, academics and healthcare scientists. Everyone came together with a single vision to speed up the pathway moving scientific discovery and technological advance to the bed-side. This approach will be of immense benefit to patients. We are evaluating whether this technology can speed up diagnosis of a range of diseases including infections and cancers, to more rapidly identify best treatments based on individual DNA profiles.”
www.guysandstthomasbrc.nihr.ac.uk/
www.nihr.ac.uk/patientdata
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Researchers at Vanderbilt University Medical Center and colleagues have identified a gene that increases the risk for a severe and potentially life-threatening reaction to the commonly prescribed antibiotic vancomycin. Routine testing for this gene could improve patient safety and reduce unnecessary avoidance of other antibiotics, they report. “We think this test will be important in the clinical care of patients starting vancomycin and will prevent mortality and short- and long-term complications,” said the paper’s senior author, Elizabeth Phillips, MD. Vancomycin is commonly given in the hospital or as home intravenous therapy for several weeks in combination with other powerful antibiotics to treat serious and potentially life-threatening bacterial infections. Within two to eight weeks of initiating antibiotic therapy, however, some patients develop a severe reaction known as DRESS — Drug Rash with Eosinophilia and Systemic Symptoms — characterized by fever, widespread skin rash and internal organ damage caused by an aberrant T-cell mediated immune response to the drug. When DRESS develops, all treatment is stopped. The mortality rate that results, often from a combination of organ damage, the need for strong immunosuppressants such as steroids and compromised treatment options for the underlying infection, approaches 10 percent. While the true incidence of DRESS is not known, every year in the United States “hundreds of thousands of patients are at risk,” said Phillips, the John A. Oates Professor of Clinical Research and professor of Medicine, Pharmacology and Pathology, Microbiology and Immunology at VUMC and Vanderbilt University School of Medicine. For several years, vancomycin has been known to be a common antibiotic trigger for DRESS, however the genetic risk factors predisposing specific patients were not known. This new finding shows that vancomycin-associated DRESS occurs in patients who carry specific variations in human leukocyte antigen (HLA) genes. HLA genes encode proteins that present foreign peptides (antigens) to T cells (a kind of white blood cell) to stimulate an immune response.
Vanderbilt University Medical Center
https://tinyurl.com/y4ukodbb
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Be sure to attend Medlab Asia & Asia Health, Singapore, 26-28 March 2019
, /in E-News /by 3wmediaJoin southeast Asia’s premier laboratory and healthcare exhibition and take part in the free educational sessions, attend the CME accredited conferences, visit the scientific poster zone and explore so much more at Level 4 at Suntec Singapore Convention & Exhibition Centre.
www.medlabasia.com
Nova Biomedical awarded multi-year critical care blood gas analyser agreement from Premier
, /in E-News /by 3wmediaNova Biomedical has been awarded a multi-year group purchasing agreement for critical care blood gas analysers from Premier. This agreement provides Premier members access to Nova’s new Stat Profile Prime Plus® critical care blood gas analyser. Prime Plus features maintenance-free sensor technology to provide 20 essential critical care tests including BUN, creatinine, ionized magnesium, blood gases, electrolytes, metabolites, hematology, and co-oximetry. Prime Plus also provides new and patented, non-lysing whole blood co-oximetry technology, along with automated quality control (QC), powerful data management, bidirectional connectivity, and extensive cybersecurity protection. The current agreement allows Premier members, at their discretion, to take advantage of special, pre-negotiated pricing and terms for Prime Plus analysers and consumables in addition to Nova’s 10-test Prime analysers.
“We are pleased that Premier has awarded a group purchasing agreement to our innovative, maintenance-free Prime Plus,” said John Britt, Director of Corporate Accounts for Nova. “This agreement allows Premier members access to the entire Stat Profile Prime platform including its new flagship analyser, Prime Plus. Prime Plus introduces innovative technology that expands critical care testing with unique assays and eliminates sensor and co-oximeter maintenance, all of which improves uptime and reliability while reducing costs. Prime Plus represents the latest in critical care testing technology and further demonstrates Nova’s leadership and history of innovation.”
Prime Plus incorporates Nova’s innovative, maintenance-free sensor technology with individual MicroSensor cards, calibrator cartridges, and quality control cartridges. This design eliminates sensor and co-oximeter maintenance, improves analyser uptime, and reduces testing costs for the compact and easy-to-use Prime Plus.
Premier is a leading healthcare improvement company, uniting an alliance of approximately 4,000 U.S. hospitals and 165,000 other providers.
www.novabiomedical.com
T2 Biosystems hosts integrated symposium at ECCMID 2019
, /in E-News /by 3wmediaT2 Biosystems, maker of rapid diagnostic technology to aid in the detection of blood stream infections to prevent sepsis, will host an integrated symposium at the European Congress of Clinical Microbiology & Infectious Diseases (ECCMID) in Amsterdam, Monday, April 15, 16:00-18:00 CET. The symposium, “Rapid diagnostics direct from whole blood: a solution for fast and appropriate antimicrobial therapy”, will feature leading clinicians and users of T2Direct Diagnostics™ who will discuss integrating the Company’s T2Bacteria® and T2Candida® Panels in clinical practice, and the product’s potential to significantly improve antimicrobial stewardship and infectious disease management in clinical settings.
www.T2Biosystems.comThe panels are the first and only FDA-cleared and CE-marked tests that identify the most serious bacterial and fungal pathogens directly from blood sample in just three to five hours, without waiting for a positive blood culture —which can take one to six or more days. These capabilities allow for faster species identification, enabling the potential for faster targeted treatment, de-escalation of empiric therapy and improved patient outcomes.
All T2Direct DiagnosticsTM panels are run on the T2Dx® Instrument using a patient’s blood sample with validated clinical sensitivity of 91 to 96% and specificity of 98 to 99%. The direct from blood capability is enabled by the proprietary T2MR-powered T2Dx® Instrument which can detect organisms at concentrations as low as 1 CFU/mL. This represents a thousandfold increase in sensitivity compared to products that detect species from positive blood culture bottles where the number of cells is typically in the range of 10,000 to 10,000,000 CFUs/mL.
T2 Biosystems recently received FDA Breakthrough Designation for the T2ResistanceTM Panel, a diagnostic panel that can detect 13 resistance genes from both gram-positive and gram-negative pathogens from a single patient blood sample in 3 to 5 hours. The T2Resistance Panel is also run on the T2Dx instrument and is expected to be CE-marked and available in Europe by the end of 2019, and offered as a Research Use Only product in the United States before yearend.
T2 Biosystems will showcase its latest innovations at ECCMID at Booth #1.22.
New gene variation which causes MND discovered in novel biological pathway
, /in E-News /by 3wmediaScientists have discovered a new gene variation that causes motor neurone disease (MND) in a novel biological pathway that until now hasn’t been linked with neurodegeneration.
The findings for the pioneering study, conducted by a team of researchers from the Sheffield Institute for Translational Neuroscience (SITraN) and the NIHR Sheffield Biomedical Research Centre (BRC), could potentially help to identify completely new ways of treating MND which currently affects over 5,000 people in the UK.
MND, also known as Amyotrophic Lateral Sclerosis (ALS), is a devastating neurodegenerative disorder that affects the nerves – motor neurones – that form the connection between the brain and the muscles. The messages from these nerves gradually stop reaching the muscles, causing them to weaken, stiffen and eventually waste. The progressive disease affects a person’s ability to walk, talk, eat and breathe. Approximately 10 per cent of MND cases are inherited but the remaining 90 per cent are caused by complex genetic and environmental interactions which are not well understood – this is known as sporadic MND. There is currently no curative therapy.
Dr Johnathan Cooper-Knock, NIHR Clinical Lecturer at the University of Sheffield’s Institute for Translational Neuroscience (SITraN), explained the impact of the ground-breaking research which is helping scientists to understand the fundamental genetic basis of MND.
“This new gene does not fit into a biological function that we already know is associated with MND,” said Dr Cooper-Knock.
“That means that this finding has potential to identify completely new ways of treating MND.
“The mutations found in patients were shown to be toxic to neurons and, when expressed in zebrafish they produced muscle weakness consistent with MND. This work strongly suggests that the mutations are the cause of MND in the patients where they were identified.”
During the study, researchers genetically sequenced tissue from two related patients with an unknown familial form of MND and found a mutation in the substrate binding region of a glycosyltransferase enzyme called GLT8D1. They went on to screen a larger sample of 103 patients, five of whom had this mutation. The study revealed a new genetic subtype of MND.
University of Sheffieldhttps://tinyurl.com/y4bwpra4
EKF signs DiaSpect Tm U.S. distribution agreement with McKesson
, /in E-News /by 3wmediaEKF Diagnostics recently announced that it had signed a private label distribution agreement with McKesson Medical-Surgical Inc. for the Company’s hand-held reagent-free hemoglobin analyser, the DiaSpect Tm. McKesson is the oldest and largest healthcare company in the U.S., serving more than 50% of U.S. hospitals and 20% of physicians. The DiaSpect Tm is the world’s fastest hemoglobin analyser and is sold in the U.S. since February 2019 by McKesson under its own branded line, as the McKesson Consult® Hb analyser. The palm-sized, lightweight DiaSpect Tm provides users in a variety of care settings with laboratory accurate hemoglobin measurements (precision: CV ≤1%) within two seconds of its whole blood-filled cuvette being inserted for analysis. This ensures immediate and robust hemoglobin results for patient health checks and anemia screening at the point of care. Based on its FDA categorization, DiaSpect Tm can be used in a range of environments, as well as by a broad scope of healthcare personnel. Essential for this, it is highly user-friendly requiring minimal training. For example, the analyser’s sampling microcuvette has been designed to collect a blood sample from any angle without forming air bubbles. The user simply collects a capillary or venous blood sample of 10 µL in the cuvette before inserting straight into the analyser. Also making it simple for POCT use, DiaSpect Tm is factory calibrated against the HiCN reference method in accordance with ICSH. It is ‘always on’ and ready to use with no re-calibration or maintenance necessary. www.ekfdiagnostics.com
Surprise rheumatoid arthritis discovery points to new treatment
, /in E-News /by 3wmediaResearchers at the School of Medicine have identified an unexpected contributor to rheumatoid arthritis that may help explain the painful flare-ups associated with the disease. The discovery points to a potential new treatment for the autoimmune disorder and may also allow the use of a simple blood test to detect people at elevated risk for developing the condition.
The arthritis discovery originated in the lab of UVA’s Kodi Ravichandran, PhD, and was facilitated by combining his team’s resources and expertise with that of Inova researcher Thomas Conrads, PhD, through a THRIV UVA-Inova seed grant.
The new findings about rheumatoid arthritis came in an unexpected fashion. Sanja Arandjelovic, PhD, a research scientist in the Ravichandran group, was seeking to better understand what causes the inflammation associated with inflammatory arthritis when she noted that deleting a gene called ELMO1 alleviated arthritis symptoms in mice. This was particularly surprising because Arandjelovic and Ravichandran initially thought that loss of ELMO1 would result in increased inflammation.
“This was a complete surprise to us initially,” recalled Ravichandran, chairman of UVA’s Department of Microbiology, Immunology and Cancer Biology. “I love those kinds of results, because they tell us that, first, we did not fully comprehend the scientific problem when we began exploring it, and, second, such unexpected results challenge us to think in a different way. Given that rheumatoid arthritis affects millions of people worldwide, we felt the need to understand this observation better.”
Digging deeper into the unusual outcome, the researchers determined that ELMO1 promotes inflammation via their function in white blood cells called neutrophils. Ravichandran described neutrophils as the body’s “first line of defence” because they sense and respond to potential threats. “Normally they are good for us, against many bacterial infections,” he said. “But also there are many times when they produce a lot of friendly fire that is quite damaging to the tissues – when they hang around too long or there are too many neutrophils coming in – in this case, infiltrating into the joints during arthritis.”
The researchers also discovered that there is a natural variation in the ELMO1 gene that can prompt neutrophils to become more mobile and have the potential to invade the joints in greater numbers and induce inflammation. (The potential blood test would detect this variation.)
Here things take a particularly cool turn: Normally, doctors are reluctant to try to block the effect of genes like ELMO1 in people, because such genes can play diverse roles in the body. But Ravichandran believes that ELMO1 is different. “ELMO1 partners with very specific set of proteins only in the neutrophils but not in other cells types we tested,” he said. “So, presumably, you may be able to affect only a select cell type.” This latter result came about from a collaborative study where Conrads’ group at Inova performed sophisticated analysis of ELMO1 proteomic partners in neutrophils, many of which also have previously known links to human arthritis. This provided further validation for the role of ELMO1 in rheumatoid arthritis.
Encouragingly, blocking ELMO1 in lab mice alleviated arthritis inflammation without causing other problems, Ravichandran noted. His laboratory is now seeking to identify drugs that could inhibit the function of ELMO1 and is also designing a test for the variation (also called polymorphism) in the ELMO1 gene.
“This is another example of how fundamental basic research can lead to novel discoveries on clinically relevant problems that affect a large number of people,” Ravichandran said.
University of Virginia
newsroom.uvahealth.com/2019/02/07/surprise-rheumatoid-arthritis-discovery-points-to-new-treatment/
New genetic test improves safety of Inflammatory Bowel Disease treatments
, /in E-News /by 3wmediaA genetic discovery will make treatment for Crohn’s disease and ulcerative colitis safer, by identifying patients who are at risk of potentially deadly drug side effects.
A ground-breaking and large-scale NHS research collaboration, led by the University of Exeter and the Royal Devon & Exeter NHS Foundation Trust, has discovered a gene mutation that allows the identification of patients at risk of a drug side effect, allowing clinicians to tailor alternative treatments to these individuals.
This finding will reduce the risk of drug side effects caused by treatment with thiopurines (consisting of azathioprine and mercaptopurine). This group of drugs is commonly used for the treatment of autoimmune and inflammatory diseases.
Crohn’s disease and ulcerative colitis (collectively known as inflammatory bowel disease –IBD) are incurable lifelong conditions that affect approximately 1 in 150 people in the UK. The main symptoms are urgent diarrhoea, often with rectal bleeding, abdominal pain, profound fatigue and weight loss. The condition disrupts people’s education, working, social and family life. Drugs to suppress the immune system are the mainstay of treatment, however more than half of patients with Crohn’s Disease and about 20 per cent of patients with ulcerative colitis will require surgery at some point. The lifetime medical costs associated with the care of a person with IBD are similar to the costs of treating diabetes or cancer.
About a third of patients with IBD are treated with a thiopurine drug, however, approximately 7 per cent of patients develop an adverse reaction called “bone marrow suppression”. This means that the body’s immune system is less able to fight infection and patients are at risk of sepsis.
Previous studies have identified mutations in a gene known as TPMT, which predisposes patients to thiopurine-induced bone marrow suppression. Clinicians either adjust the dose or avoid thiopurines altogether if routine tests show that patients are likely to carry faulty versions of the TPMT gene. However, only a quarter of patients who suffer from bone-marrow suppression have abnormalities in TPMT, suggesting that other genes may be involved.
Through the National Institute of Health Research Clinical Research Network, 82 NHS hospitals in the UK recruited patients to the study. In addition patients were recruited from international collaborators in the Netherlands, USA, Australia, France, New Zealand, South Africa, Malta, Denmark, Sweden, Italy and Canada. The Exeter IBD Research Group also recruited UK patients via the Medicines and Healthcare products Regulatory Agency (MHRA) Yellow Card Scheme, which collects reports of patients who have experienced complications of treatment.
DNA from approximately 500 patients with IBD that suffered thiopurine-induced bone marrow suppression and 680 controls (IBD patients who had received thiopurines and had no history of bone marrow suppression), were analysed to identify genes possibly associated with this adverse drug reaction.
The researchers found an association between mutations in a gene called NUDT15 and bone marrow suppression. This gene mutation had previously only been thought important in patients of East Asian descent.
Chief Investigator of the study, Dr Tariq Ahmad, of the University of Exeter Medical School, said: “In the largest genetic analysis into the side effects of thiopurine drugs we’ve discovered variation in a gene that can help us identify who is susceptible to thiopurine-induced bone marrow suppression. In line with the NHS 10 year plan to increase personalised medicine, testing for this genetic abnormality prior to prescribing thiopurine drugs will reduce the risks to patients, and costs to the NHS, associated with this potentially serious drug side effect.
Exeter Universitywww.exeter.ac.uk/news/research/title_706404_en.html
Collaboration to advance noninvasive risk assessments of pregnancy outcomes
, /in E-News /by 3wmediaThermo Fisher Scientific and NX Prenatal Inc., a recognized leader in the detection, monitoring and management of pregnancy-related complications using novel exosome-based methods, have entered into a collaboration to develop clinical mass spectrometry-based proteomics assays to monitor fetal health in utero and assess the risk of adverse outcomes, including preterm birth and preeclampsia.
This new collaboration recognizes the challenges faced by medical professionals who have few tools available for noninvasive risk stratification for adverse pregnancy outcomes. By combining NX Prenatal’s NeXosome platform with Thermo Fisher’s leading liquid chromatography-mass spectrometry (LC-MS) instrumentation, the workflows can address the reliability, accuracy and precision of the analytical solutions currently available to clinical scientists.
"Our collaboration with NX Prenatal is aiming to enable us to better evaluate maternal and fetal biomarkers during pregnancy that correlate with adverse outcomes, such as preterm birth," said Brad Hart, senior director, clinical research, chromatography and mass spectrometry, Thermo Fisher Scientific. "The co-development of a commercially available clinical mass spectrometry-based proteomics assay has the potential to provide a diagnostic solution to both clinical scientists and medical professionals offering more confidence in the evaluation of novel biomarkers that can support a safe delivery and healthy future for mother and baby."
"At NX Prenatal, we are developing novel assays and noninvasive early warning systems to detect subtle molecular changes in the maternal-fetal environment, all with the goal of improving the rate of healthy pregnancy outcomes," said Brian D. Brohman, CEO of NX Prenatal. "Our collaboration with Thermo Fisher Scientific brings together our novel NeXosome platform with their leading analytical technology with the goal of optimizing clinical mass spectrometry-based workflows, in an effort to provide the precision necessary for personalized diagnostic solutions to improve health outcomes for both mother and child."
The unique NeXosome technology is used to enrich maternal blood samples for microparticles, such as exosomes, which play key roles in maintaining certain balances between the mother and fetus during pregnancy. Aberrations in these balances have been shown to correlate with the likelihood of adverse pregnancy outcomes. Merging the NeXosome platform with Thermo Fisher LC-MS technology has the potential to generate fast, efficient and accurate data for the analysis of exosome-derived proteomic biomarkers, which may lead to increased information about maternal and fetal health during pregnancy. Ultimately, the analysis has the potential to support obstetrical care decisions in conjunction with traditional clinical assessments. www.thermofisher.com
New technology for diagnosis of Huntington’s disease could give results in days instead of weeks
, /in E-News /by 3wmediaThe world’s first genetic test for Huntington’s disease using nanopore-based DNA sequencing technology is now available at Guy’s and St Thomas’ NHS Foundation Trust. The test could drastically cut the waiting time for the most complicated cases of Huntington’s disease and has huge potential for other genetic disorders in the future.
The breakthrough was achieved by a collaboration between Viapath, the NIHR Guy’s and St Thomas’ Biomedical Research Centre and its academic partner King’s College London, and the London South Genomic Laboratory Hub.
The team used MinION DNA sequencing devices made by Oxford Nanopore Technologies that provide results much faster than traditional testing methods. They have shown for the first time that these sequencing devices can meet the stringent, internationally recognized standards for use in clinical laboratories, providing ‘proof-of-principle’ that this new technology can be used in the NHS.
The MinION is a small hand-held device that ‘decodes’ individual strands of DNA in real-time. It identifies any changes in the DNA sequence and then matches these to a library of known genetic sequences to detect presence of the genetic disorder. Most current technologies provide segments of DNA sequence that need to be analysed at a later date, which leads to a longer wait for results.
Huntington’s disease is an inherited neuro-degenerative disorder which stops parts of the brain working properly, with symptoms worsening over time, and is usually fatal within 20 years. Currently individuals with symptoms of Huntington’s disease have a blood test and can wait up to four weeks for the result.
Dr Deborah Ruddy, consultant clinical geneticist at Guy’s and St Thomas’, said: “This technology means that test results for people with symptoms of Huntington’s disease could be reduced to less than one week. We are now conducting research to determine where else this new technology could speed up diagnosis of other genetic disorders.
“Although there is no cure for Huntington’s disease as yet, treatment and support can help reduce some of the problems it causes. The technology can reduce the distress that patients and families experience whilst waiting for results, and also administer treatments and make support available to patients sooner than previously possible.”
This is the first time that Oxford Nanopore Technology has been used in an NHS laboratory accredited by the United Kingdom Accreditation Service (UKAS), which requires the technology to meet stringent quality control standards and produce reliable results on every sample.
Professor Jonathan Edgeworth, Viapath’s Medical Director, said: “This advance was made possible through a research partnership involving front-line clinicians, academics and healthcare scientists. Everyone came together with a single vision to speed up the pathway moving scientific discovery and technological advance to the bed-side. This approach will be of immense benefit to patients. We are evaluating whether this technology can speed up diagnosis of a range of diseases including infections and cancers, to more rapidly identify best treatments based on individual DNA profiles.”
www.guysandstthomasbrc.nihr.ac.uk/
www.nihr.ac.uk/patientdata
Gene identified that increases risk of antibiotic reaction
, /in E-News /by 3wmediaResearchers at Vanderbilt University Medical Center and colleagues have identified a gene that increases the risk for a severe and potentially life-threatening reaction to the commonly prescribed antibiotic vancomycin.
Routine testing for this gene could improve patient safety and reduce unnecessary avoidance of other antibiotics, they report.
“We think this test will be important in the clinical care of patients starting vancomycin and will prevent mortality and short- and long-term complications,” said the paper’s senior author, Elizabeth Phillips, MD.
Vancomycin is commonly given in the hospital or as home intravenous therapy for several weeks in combination with other powerful antibiotics to treat serious and potentially life-threatening bacterial infections.
Within two to eight weeks of initiating antibiotic therapy, however, some patients develop a severe reaction known as DRESS — Drug Rash with Eosinophilia and Systemic Symptoms — characterized by fever, widespread skin rash and internal organ damage caused by an aberrant T-cell mediated immune response to the drug.
When DRESS develops, all treatment is stopped. The mortality rate that results, often from a combination of organ damage, the need for strong immunosuppressants such as steroids and compromised treatment options for the underlying infection, approaches 10 percent.
While the true incidence of DRESS is not known, every year in the United States “hundreds of thousands of patients are at risk,” said Phillips, the John A. Oates Professor of Clinical Research and professor of Medicine, Pharmacology and Pathology, Microbiology and Immunology at VUMC and Vanderbilt University School of Medicine.
For several years, vancomycin has been known to be a common antibiotic trigger for DRESS, however the genetic risk factors predisposing specific patients were not known.
This new finding shows that vancomycin-associated DRESS occurs in patients who carry specific variations in human leukocyte antigen (HLA) genes. HLA genes encode proteins that present foreign peptides (antigens) to T cells (a kind of white blood cell) to stimulate an immune response.
Vanderbilt University Medical Center https://tinyurl.com/y4ukodbb