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November 2025
The leading international magazine for Clinical laboratory Equipment for everyone in the Vitro diagnostics
Prins Hendrikstraat 1
5611HH Eindhoven
The Netherlands
info@clinlabint.com
PanGlobal Media is not responsible for any error or omission that might occur in the electronic display of product or company data.
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Privacy policy
Real time PCR test for HPV
, /in E-News /by 3wmediaAn opportunity exists to require the rights to a real time PCR test for thirteen oncogenic HPV types (Jenkins et al, J Virol Methods 2013).
Interested parties should contact:
Lawyer Maria Torvund
Uniongata 18
3732 Skien
Norway
Tel: +47 35 53 20 00
Fax: +47 35 53 20 01
advokat@mariatorvund.no
not later than 01.09.2017
A blood test developed to detect a rare neurological disease
, /in E-News /by 3wmediaAP-HP teams in collaboration with researchers from the ICM (Inserm / CNRS / UPMC), and the start-up Metafora Biosystems, from the CNRS, have just developed a blood diagnostic test for a neurological disease rare but treatable, De Vivo’s disease.
It has been tested on 30 patients with this disease that induces neurological deficits such as epilepsy or walking disorders for example.
The new test will enable children and affected adults to be identified quickly (within 48 hours) and easily compared to current diagnostic tests that rely on invasive gestures, Lumbar puncture or complex DNA analysis.
De Vivo’s disease or syndrome of cerebral glucose transporter 1 (GLUT-1) deficiency is most often characterized by developmental delay, epilepsy and / or motor disorders in children. Frustrated forms have been described in children (access to abnormal movements) but also adults. Based on an estimated prevalence of 1/83 000 in the Danish population, the number of patients in France is estimated to be 800 , of which slightly more than 100 would be diagnosed. As soon as they are diagnosed, patients can benefit from metabolic treatments that decrease the symptoms.
In this study, blood samples from 30 patients with the disease with different profiles, according to age and symptoms, were analysed. Compared with 346 samples of control individuals, the results showed that the test was significantly conclusive with 78% of the diagnosis, including patients for whom the genetic analyses had not been able to establish the diagnosis.
Based on these results, researchers recommend the use of this test in clinical routine in all neurology and neurology departments. They suggest that the simplicity of this new test should increase the number of patients identified in France.
Thanks to this innovative new blood test, the disease can be sought in any patient with intellectual disability and / or epilepsy and / or a walking disorder. The treatments that can be implemented considerably improve the symptoms, such as the disappearance of epileptic seizures, and are all the more effective since they are started early, hence the importance of an early diagnosis .
The Bichat – Claude – Bernard Hospital
www.aphp.fr/contenu/un-test-sanguin-developpe-pour-detecter-une-maladie-rare-neurologique
Improved accuracy when testing cancer drugs
, /in E-News /by 3wmediaMethod to more accurately test anti-cancer drugs have now been developed at the Sahlgrenska Academy, University of Gothenburg. The method paves the way to much earlier assessment of who benefits from a specific drug and who does not.
“It is common for cancer patients to be prescribed drugs that fail to help them, often with side effects. But, we have shown that this method can be used as early as in the drug development phase to determine which patient groups will benefit from the drug,” says Berglind Osk Einarsdottir, a researcher at Sahlgrenska Cancer Center.
The method for identifying whether cancer patients will benefit from a specific treatment is based on taking biopsies of the tumours during surgery – small tissue samples that are processed and implanted under the skin of a number of mice.
In her research, Berglind Osk Einarsdottir follows the tumours growth in the animal models, and tests how they respond to different cancer drugs. The experiments take anywhere from a few weeks to few months, depending on the growth rate of the tumours.
“This is not a method that is currently used in Swedish healthcare, but we chose to perform experiments to show that it works and can be used in the future if needed,” says Berglind Osk Einarsdottir.
She feels the potential really lies in the reverse application, where the same drug is tested on mice implanted with tumour tissue from many different patients. One of her substudies involves this very notion, namely how 33 patients responded to the anticancer agent Karonudib, which was recently developed at Karolinska Institutet.
The experiments showed that two-thirds of the patient samples responded to the treatment. The question was, what did they have in common – similar DNA, metabolism, protein expression or something else? Such knowledge would make it possible to better predict in which patients a drug will really inhibit tumour growth and help kill cancer cells.
“It turned out that it didn’t matter what mutations were found in the tissues. What we did see was a possible way that the tumours could become resistant to the treatment. Some samples had a high expression of a protein that helps the cells repel the drug, and that was what we found – a potential mechanism for resistance.”
“You can use the method in patient oriented way, where the aim is to identify which anti-cancer drug will benefit a specific patient the best. Or in a drug development oriented way, where the aim is to identify which subgroup of patients will benefit the most from a specific anti-cancer drug. It is here that we think the greatest opportunities exist,” she says.
University of Gothenburg
www.gu.se/english/about_the_university/news-calendar/News_detail//improved-accuracy-when-testing-cancer-drugs.cid1472499
Seven new DNA regions linked to kidney cancer risk
, /in E-News /by 3wmediaResearchers have found seven new single-letter changes to DNA that are linked to an increased chance of developing renal cell carcinoma. People with these variants are more likely to develop renal cell carcinoma, through the effect they have on nearby genes.
The study team, including researchers from The Institute of Cancer Research, London, have recently published their results. As well as finding the seven new single-letter changes, they confirmed another six that had previously been put forward as risk factors for the disease.
Kidney cancer is the seventh most commonly diagnosed cancer in the UK, and renal cell carcinoma makes up 90 per cent of cases.
While much of the risk comes from lifestyle factors, genetics also plays a part. In total, the 13 genetic variants account for around 10 per cent of the inherited risk of renal cell carcinoma.
By comparing the DNA of 10,784 people with the disease and 20,406 people without, the team found that the seven new single-letter changes – as well as the six previously reported ones – were more likely to occur in people who developed renal cell carcinoma.
Further analysis allowed the team to suggest how these variants might be increasing risk of the disease.
For example, a single-letter change on chromosome 14 seems to affect the way that the instructions in a gene called DPF3 are carried out. That gene is involved in the production of proteins that affect the packaging of DNA – and errors in these proteins are often found in tumours.
Professor Richard Houlston, Professor of Molecular and Population Genetics at the ICR, was one of the study’s lead authors. He said: “Our analysis provides further evidence that a person’s susceptibility to renal cell carcinoma is linked to the combined effect of multiple genetic mutations.
Institute of Cancer Research
www.icr.ac.uk/news-archive/seven-new-dna-regions-linked-to-kidney-cancer-risk?via=carousel0024
Existing drugs could benefit patients with bone cancer, genetic study suggests
, /in E-News /by 3wmediaA subgroup of patients with osteosarcoma – a form of bone cancer – could be helped by an existing drug, suggest scientists from the Wellcome Trust Sanger Institute and their collaborators at University College London Cancer Institute and the Royal National Orthopaedic Hospital NHS Trust. In the largest genetic sequencing study of osteosarcoma to date, scientists discovered that 10 per cent of patients with a genetic mutation in particular growth factor signalling genes may benefit from existing drugs, known as IGF1R inhibitors.
The results suggest a re-trial of IGF1R inhibitors for the subset of patients with osteosarcoma who are likely to respond based on their genetic profile.
Osteosarcoma is the most common form of primary bone cancer in children and young adults, usually affecting people aged 10 to 24 years. 160 new patients are diagnosed with osteosarcoma in the UK each year, of which around one third cannot be cured.
The current treatment for osteosarcoma is chemotherapy followed by surgery, where the bone tumours are removed. There has not been a new treatment for osteosarcoma in almost 40 years, in spite of extensive research.
In the study, scientists analysed the genome of 112 childhood and adult tumours – double the number of tumours studied previously. In 10 per cent of cases, the team discovered cancer-driving mutations in insulin-like growth factor (IGF) signalling genes.
IGF signalling plays a major role in bone growth and development during puberty. Researchers believe that IGF signalling is also implicated in the uncontrollable growth of bone that is characteristic of osteosarcoma.
IGF signalling genes are the target of existing drugs, known as IGF1R inhibitors. Past clinical trials of IGF1R inhibitors as a treatment for osteosarcoma yielded mixed results although occasional patients responded to the treatment. In spite of this, IGF1R inhibitors have not been further tested in osteosarcoma, as it had been unclear who would benefit from the treatment.
In the study, scientists looked for mutations in the tumours to understand the mechanism of osteosarcoma development. The genetic information revealed a specific process for rearranging the chromosomes that results in several cancer-driving mutations at once.
“By sequencing the whole genome of the tumours, we have unpicked the mechanism behind osteosarcoma for the first time. We discovered a new process – chromothripsis amplification – in which the chromosome is shattered, multiplied and rejigged to generate multiple cancer-driving mutations at the same time. We believe this is why we see very similar osteosarcoma tumours in children and adults, which are not the result of ageing.”
Professor Adrienne Flanagan, senior author from the Royal National Orthopaedic Hospital NHS Trust and University College London Cancer Institute
“Currently, there are no new osteosarcoma treatments on the horizon. Genomic sequencing has provided the evidence needed to revisit clinical trials of IGF1R inhibitors for the subset of patients that responded in the past. The mutations of patients’ tumours may enable clinicians to predict who will, and will not respond to these drugs, resulting in more efficient clinical trials. The drugs could be effective for 10 per cent of osteosarcoma patients.”
Wellcome Sanger Institute
www.sanger.ac.uk/news/view/existing-drugs-could-benefit-patients-bone-cancer-genetic-study-suggests
Test is first to identify patients with completely benign pancreatic abnormalities
, /in E-News /by 3wmediaWhen performed in tandem, two molecular biology laboratory tests distinguish, with near certainty, pancreatic lesions that mimic early signs of cancer but are completely benign. The lesions almost never progress to cancer, so patients may be spared unnecessary pancreatic cancer screenings or operations. The two-test combination is the only one to date that can accurately and specifically identify these benign pancreatic lesions. Its utility was described in one of the largest studies of patients with this form of pancreatic lesion by researchers from Indiana University, Indianapolis.
Between 2 to 3 percent of all patients have some type of pancreatic lesions or cysts revealed on routine abdominal diagnostic radiology scans. Nearly all of these patients will later develop pancreatic cancer. The most common and deadliest form of pancreatic cancer—pancreatic adenocarcinoma—has a five-year survival rate of 12 to 14 percent for early-stage disease and 1 to 3 percent for advanced disease, according to the American Cancer Society.
A small percentage of patients have serous cystic neoplasms (SCN) that do not harbour malignant potential or progress to cancer. Nevertheless, these patients undergo imaging or other surveillance every six months to spot changes indicative of cancer, or they undergo an operation to remove part of the gland as a precaution because SCN are difficult to find using standard diagnostic methods. More than 60 percent of SCN are not predicted preoperatively3 and 50 to 70 percent are missed or incorrectly diagnosed on radiology scans.4
However, the researchers determined that two proteins can play a significant role in ruling out pre-cancer and cancer. Vascular endothelial growth factor A (VEGF-A) is a protein associated with promotion of new blood vessel formation. VEGF-A is upregulated in many tumours, and its expression can be correlated with a tumour’s stage. Its utility in the diagnosis of pancreatic cysts was discovered by researchers at Indiana University. Carcinoembryonic antigen (CEA) is a protein associated with cell adhesion. It is present in low levels in healthy individuals, but it is increased with certain types of cancers.
Tests for each of these proteins in pancreatic cyst fluid have accurately distinguished SCN from other types of pancreatic lesions. In the present study, VEGF-A, alone, singled out SCN with a sensitivity of 100 percent and specificity of 83.7 percent, and CEA had a 95.5 percent sensitivity and 81.5 percent specificity.
Together, however, the tests approached the gold standard of pathologic testing: The combination had a sensitivity of 95.5 percent and specificity of 100 percent for SCN. Authors of the study concluded that results of the VEGF-A/CEA test could have prevented 26 patients from having unnecessary surgery.
American College of Surgeons
www.facs.org/media/press-releases/2017/pancreatic062217
Tourette Syndrome risk increases in people with genetic copy variations
, /in E-News /by 3wmediaAn international team that just conducted the largest study of Tourette Syndrome has identified genetic abnormalities that are the first definitive risk genes for the disorder.
Although Tourette has long been thought to have a genetic basis — because the syndrome tends to appear in families — before now no definitive risk genes had been found. The breakthrough came when researchers focused on a relatively new area of genomics research that takes a broader look at the entire genome, rather than searching for a particular gene, says Peristera Paschou, Purdue University associate biology professor.
"Most times we focus on a mutation of a single base pair, which are the building blocks of DNA, and look for a mutation. But in recent years we’ve realized that there is another type of variation of the human genome," Paschou says.
Scientists have been exploring how often short sections of genes are repeated through the entire genome, how these repetitions might vary among individuals, and whether these repetitions, which are called copy number variants, have an effect on health.
"These variations may involve a large part of the DNA sequence and may even include whole genes. We have only very recently begun to understand how copy number variation may relate to disease," she says. "In the case of this research on Tourette Syndrome, we scanned the entire genome, and through physical analysis, we were able to identify where this variation lies.
"We rarely find variants that are associated at such a high level. This is why this is such a big breakthrough."
Dr. Jeremiah Scharf, of the Psychiatric & Neurodevelopmental Genetics Unit in the Massachusetts General Hospital Departments of Psychiatry and Neurology and the Massachusetts General Hospital Center for Genomic Medicine, co-senior author of the report, says this is a significant finding.
"The challenge of recognizing that Tourette Syndrome is not a single gene disorder, and that a stringent statistical certainty is required in order to declare a gene to be significantly associated with it, has been our long-term aim," he says. "We believe that what sets our study apart from prior studies is that the two genes we have identified both surpassed the stringent threshold of ‘genome-wide significance,’ and so, represent the first two definitive Tourette Syndrome susceptibility genes."
Purdue University
www.purdue.edu/newsroom/releases/2017/Q2/tourette-syndrome-risk-increases-in-people-with-genetic-copy-variations.html
New biomarker assay detects neuroblastoma with greater sensitivity
, /in E-News /by 3wmediaInvestigators at The Saban Research Institute of Children’s Hospital Los Angeles have developed and tested a new biomarker assay for quantifying disease and detecting the presence of neuroblastoma even when standard evaluations yield negative results for the disease. In a study, led by Araz Marachelian, MD, of the Children’s Center for Cancer and Blood Diseases, researchers provide the first systematic comparison of standard imaging evaluations versus the new assay that screens for five different neuroblastoma-associated genes and determine that the new assay improves disease assessment and provides prediction of disease progression.
Neuroblastoma is a cancer of the nervous system that exists outside the brain and typically is diagnosed in children 5 years or age or younger. Forty-five percent of patients have high-risk, metastatic tumours (stage 4) when diagnosed.
While children with neuroblastoma often respond to therapy and many are declared to be in a “remission” based on standard tests, many will still relapse. “Clearly, there is some remaining tumour in the body that we cannot detect with standard tests and physicians have a hard time predicting if a patient is likely to relapse,” said Marachelian, who is medical director of the New Approaches to Neuroblastoma (NANT) consortium, headquartered at CHLA.
The new assay, which was developed in the laboratories of Robert Seeger, MD, and Shahab Asgharzadeh, MD, at CHLA, tests for five different genes that are specific to neuroblastoma. The test evolved to address the need for a better way to quantify the disease and fully understand its impact on the patient. Previously, assays used for detecting disease screened for only one NB-associated gene at a time, which was less effective. Instead of running five different tests, the research team figured out a way to test for multiple neuroblastoma-associated genes, simultaneously, using a different technology platform. This test can quantify infinitesimal amounts of tumour, akin to finding “a needle in a haystack”.
According to Marachelian, in a population of patients with relapsed or refractory neuroblastoma, it is important to understand if the therapeutics given to patients are working. But standard clinical evaluations such as scans (CT, MRI and MIBG) and bone marrow evaluation can be limited in their ability to do this because of variability and an inability to indicate severity of disease or how aggressive the treatment should be.
“With imaging scans, disease that is starting to grow versus disease that is getting better can look very similar when you first look,” explained Marachelian, who is also an assistant professor of Clinical Pediatrics at the Keck School of Medicine of the University of Southern California. “This assay could have the potential to be like an advance warning system – we can see if things are getting worse and be poised to take action. Alternately, if we see things are getting better or the disease is no longer detectable even with this very sensitive test, we can decrease the treatment to protect the patient from unnecessary exposure to toxicity and side effects.”
Children’s Hospital Los Angeles
www.chla.org/press-release/finding-needle-haystack-new-biomarker-assay-detects-neuroblastoma-greater-sensitivity
Tiny nanoparticles offer significant potential in detecting and treating disease
, /in E-News /by 3wmediaExosomes – tiny biological nanoparticles which transfer information between cells – offer significant potential in detecting and treating disease, the most comprehensive overview so far of research in the field has concluded.
Areas which could benefit include cancer treatment and regenerative medicine, say Dr Steven Conlan from Swansea University, Dr Mauro Ferrari of Houston Methodist Research Institute in Texas, and Dr Inês Mendes Pinto from the International Iberian Nanotechnology Laboratory in Portugal.
Exosomes are particles produced by all cells in the body and are from 30-130 nanometres in size – a nanometre is one-billionth of a metre. They act as biological signalling systems, communicating between cells, carrying proteins, lipids, DNA and RNA. They drive biological processes, from modulating gene expression to transmitting information through breast milk.
Though discovered in 1983, the full potential of exosomes is only gradually being revealed. The researchers show that the nanoparticles’ possible medical benefits fall into three broad categories:
One of the most useful properties of exosomes is that they are able to cross barriers such as the plasma membrane of cells, or the blood/brain barrier. This makes them well-suited to delivering therapeutic molecules in a very targeted way.
The potential benefits of exosomes can be seen in the wide range of research projects – cited in the paper – already either completed or under way, in areas such as:
The team caution that there is more to do before research into exosomes translates into new techniques and treatments. Side-effects need to be considered, and a standardised approach to isolating, characterising and storing exosomes will need to be developed.
Researchers will also need to ensure that the properties of exosomes do not end up causing harm: for example they can transfer drug resistance and pacify the immune system.
Nevertheless, the potential is very clear, with the team describing exosomes as “increasingly promising”.
Professor Steve Conlan of Swansea University Medical School, one of the authors of the paper, said:
“Our survey of research into exosomes shows clearly that they offer enormous potential as a basis for detecting and treating disease.
Swansea University
www.swansea.ac.uk/media-centre/latest-research/tinynanoparticlesoffersignificantpotentialindetectingandtreatingdisease-newreview.php
Screening for both genetic diseases and chromosomal defects with a single biopsy improves pregnancy rates
, /in E-News /by 3wmediaCouples who are undergoing pre-implantation genetic diagnosis (PGD) in order to avoid transmission of inherited diseases, such as Duchenne muscular dystrophy or cystic fibrosis, should also have their embryos screened for abnormal numbers of chromosomes at the same time, say Italian researchers.
By doing this, only embryos that are free not only of the genetic disease, but also of chromosomal abnormalities (aneuploidy), would be transferred to a woman’s womb, giving her the best chance of achieving a successful pregnancy, and avoiding the risk of implantation failure, miscarriage, or even live births that could be affected by conditions such as Down syndrome (in which there is an extra chromosome) or Turner syndrome (in which a girl has only one x chromosome rather than the normal two).
In a study reporting on the world’s largest series of double genetic tests the researchers carried out simultaneous PGD and pre-implantation genetic screening (PGS) on cells taken in a single biopsy.
They took between five and ten cells from the outer layer of 1122 blastocysts (the early collection of cells that begin to form about five days after an egg has been inseminated with sperm and which go on to develop into an embryo) and, after PGD and PGS, 218 blastocysts were transferred to the women’s wombs, resulting in 99 pregnancies and the birth of 70 healthy babies by January 2017, when the paper was written. This is a pregnancy rate of 49%, which is higher than the average clinical pregnancy rate of between 22-32% reported in the general population of couples undergoing in vitro fertilisation (IVF). At the time of writing the paper, 13 further pregnancies were ongoing and now 12 have resulted in the birth of healthy babies, while one miscarried. This gives a delivery rate of 38.6%. A total of 91 healthy blastocysts remain frozen awaiting transfer.
Dr Maria Giulia Minasi, laboratory director at the Centre for Reproductive Medicine, European Hospital, Rome, Italy, and first author of the study, said: “Importantly, we found that while 55.7% of the biopsied blastocysts did not carry a genetic disease or changes in the structures of chromosomes, only 27.5% of them also had the right number of chromosomes. Without performing pre-implantation genetic screening for aneuploidy, 316 blastocysts, which appeared to be healthy but had abnormal numbers of chromosomes, could have been transferred, leading to implantation failures, miscarriages or sometimes live births of babies affected by aneuploidy. For the couples involved, and particularly the women, these outcomes can be emotionally devastating.”
As a result of their findings, Dr Minasi and her colleagues believe that when couples undergo PGD, they should also have PGS.
The European Society of Human Reproduction and Embryology
www.eshre.eu/Press-Room/Press-releases-2017/Simultaneous-PGD-and-PGS-screening-on-cells-in-a-single-biopsy.aspx