Laboratory medicine is one of the major supporting areas of healthcare management. Though representing less than 2% of health expenditure, it affects over 70% of clinical decisions which are taken based on laboratory results and this trend is even growing in the last decade. One of the drivers of this increased significance is a better understanding of the different roles that proteins, enzymes, substrates and electrolytes playsin keeping the organism in healthy state, and how some imbalances in their normal levels could become predictors of future diseased states. This has led in the last few years to develop a number of highly specialized tests focused on uncommon parameters, often referred to as esoteric tests or special tests. Accounting for about 15% in the value of all tests performed in the field of biochemistry testing, but just 2% in the number of tests, they are one of the key drivers of the expansion in the market, as new and more useful tests are proposed. Nowadays, they grow at a rate close to 15% in comparison with the paltry 1% of routine tests and a new business model has appeared for the laboratory as referral centre for those tests, gathering requests from other laboratories more focused on routine tests and for which implementing special tests in their menu is not cost-effective. Biosystems, as a leading manufacturer of reagents and instruments world-wide is also actively expanding into this area with a number of reagents that have been clinically accepted as valuable markers or monitors of several disease states. The menu of test includes parameters for cardiac risk assessment like homocysteine, that is associated with an increased risk of myocardial infarction and venous thrombosis; urolithiasis recurrence management, with parameters like serum oxalate, associated with primary hyperoxaluria, or angiotensin converting enzyme, associated with sarcoidosis; the biochemical profile of fertility in seminal plasma, with parameters like zinc, associated with male infertility; or enzyme activity associated with some critical metabolic pathways relevant in emergency management, like aldolase (muscle weakness of several origins), beta-hydroxybutyrate (ketosis in diabetic patients) or lactate (lactic acidosis after a congestive heart failure). All of these tests are available for BioSystems’ automatic systems A15, A25 and BA400, but can also be adapted to many other common analysers in the market.

www.biosystems.es biosystems@biosystems.es

Coris BioConcept develops and manufactures immunochromatographic tests allowing fast and accurate diagnosis of infectious diseases. The company was founded by Dr Thierry Leclipteux in 1996, when it was still possible to start a biotech company from scratch. After a lot of determination and support, the first employees were hired only four years later. That moment marked the take-off of the company. Today, 20 years later, Dr Leclipteux and his 30 employees are proud to look back and see how big and  healthy the growth has been. Those 20 years were fueled by the ambition of a never-ending innovation spirit and a worldwide expansion.
Today, Coris BioConcept is a major player in the diagnostic field offering a wide range of effective solutions for the diagnosis  of viruses, bacteria and parasites. When the company started, only two products were available: the Rotavirus and Adenovirus detection tests. Still in the top-10 selling products, these two tests are now included in a total of 50 different products available, all designed and developed in-house. This success could not be reached without continuous investment in research and development. Today, the R&D department represents 40% of the entire working team, which is quite atypical for an SME.
Since the beginning, Coris BioConcept has been increasing and sharing its technical know-how by participating in multiple national and international scientific projects, mainly financed within FP6, FP7 and H2020 framework programmes. Those collaborations combined with the product distribution in more than 60 countries all over the world position Coris BioConcept as an essential player in the diagnostic field. This global involvement motivates the company to set its goals in the development of solutions to major health concerns, such as the fight against antibiotic resistance. This main issue is dramatically evolving in the context of hospital-acquired bacterial infections. Faster diagnostic solutions are required to help clinicians rapidly adopt the most accurate antibiotic treatment. The new “RESIST” range of immunochromatography tests recently launched fulfills that purpose. The NDM-, OXA-48- and KPC-K-SeT allow a precise identification of carbapenem resistant bacteria in less time than conventional laboratory methods. Other additional tests are already under development to offer the most exhaustive set of antibiotic resistances detections.
Coris BioConcept’s challenges for the future have never been that high to maintain its position as an international standard in the infectious diagnostic field. However the company keeps in mind its core values of harmony, rigour, respect and commitment that defines its way of life.

www.corisbio.com

The distinct structures of toxic protein aggregates that form in degenerating brains determine which type of dementia will occur, which regions of brain will be affected, and how quickly the disease will spread, according to a study from the Peter O’Donnell Jr. Brain Institute.

The research helps explain the diversity of dementias linked to tau protein aggregation, which destroys brain cells of patients with Alzheimer’s and other neurodegenerative syndromes. The study also has implications for earlier and more accurate diagnoses of various dementias through definition of the unique forms of tau associated with each.

“In addition to providing a framework to understand why patients develop different types of neurodegeneration, this work has promise for the development of drugs to treat specific neurodegenerative diseases, and for how to accurately diagnose them. The findings indicate that a one-size-fits-all strategy for therapy may not work, and that we have to approach clinical trials and drug development with an awareness of which forms of tau we are targeting,” said study author Dr. Marc Diamond, founding Director of the Center for Alzheimer’s and Neurodegenerative Diseases, and Professor of Neurology and Neurotherapeutics with the O’Donnell Brain Institute at UT Southwestern Medical Center.

Researchers used special cell systems to replicate distinct tau aggregate conformations. These different forms of pathological tau were then inoculated into the brains of mice. Each form created different pathological patterns, recapitulating the variation that occurs in diseases such as Alzheimer’s, frontotemporal dementias, and traumatic encephalopathy.

The different forms of tau caused pathology that spread at different rates through the brain, and affected specific brain regions. This experiment demonstrated that the structure of pathological tau aggregates alone is sufficient to account for most if not all the variation seen in human neurodegenerative diseases that are linked to this protein.

The finding could have a notable impact on widespread efforts at the O’Donnell Brain Institute and elsewhere to develop treatments that eliminate tau and other toxic proteins from the brains of dementia patients.

“The challenge for us now is to figure out how to rapidly and efficiently determine the forms of tau that are present in individual patients, and simultaneously, to develop specific therapies. This work says that it should be possible to predict patterns of disease in patients and responses to therapy based on knowledge of tau aggregate structure,” said Dr. Diamond, who holds the Distinguished Chair in Basic Brain Injury and Repair.

Southwestern Medical Center www.utsouthwestern.edu/newsroom/news-releases/year-2016/oct/identifying-tau-strains.html

Researchers have identified two new genetic risk factors for Alzheimer’s disease (AD) among African Americans.  The findings may lead to the development of new therapies specifically targeting those genes.

Despite the fact that AD is more common in African Americans than Caucasians, the AD genetic risk profile for African Americans is more poorly understood. While more than 20 genes have been identified as risk factors for AD in Caucasians, fewer than five have been identified for African Americans.

In 2013, a genome-wide association study of AD in more than 5,500 African Americans identified two genetic risk factors for AD. This study looked at genetic variants across subjects’ entire genome and compared their frequency in cases versus controls. Researchers from Boston University School of Medicine (BUSM) used these same subjects, but added additional AD risk information (smoking status, diabetes status, education level) to their statistical modelling to increase the power of the study. By doing so they were able to identify two new genes (COBL and SLC10A2) associated with risk of AD in African Americans.

Mez_Jesse-432×636-2“There are currently no medications for AD that slow or stop the progression of the disease. Genes that increase risk for AD are potential targets for new disease-modifying AD drug therapies. Our study identifies two potentially “drugable” targets,” explains corresponding author Jesse Mez, MD, MS, assistant professor of neurology  and associate director of the BU Alzheimer’s Disease & CTE Center Clinical Core.

According to the researchers the methodology they employed for this study allowed them to make an important discovery without investing more money in genotyping or more effort to recruit volunteers. They believe that a similar methodology could be used for many other diseases to make new genetic discoveries without new large investments.

“Despite the fact that Alzheimer’s disease is more common in African Americans than Caucasians, we understand less about the genes that influence risk of Alzheimer’s in African Americans. Our hope is that this study begins to eliminate that disparity and that ultimately these newly identified genes become targets for Alzheimer’s disease drug development,” added Mez.

Boston University Medical Center www.bumc.bu.edu/busm/2016/10/25/new-genes-responsible-for-alzheimers-among-african-americans-identified/

Children diagnosed with autism spectrum disorder (ASD) have greater numbers of harmful mutations in their mitochondrial DNA than family members, report Zhenglong Gu of Cornell University in Ithaca, New York, and colleagues, in a study.

Increasingly, studies point to malfunctions in mitochondria — the powerhouses of the cell — as a cause of autism spectrum disorder, but the biological basis for this relationship is unclear. To see if a genetic link exists between mitochondrial malfunction and ASD, the scientists analysed mitochondrial DNA sequences from 903 children with ASD, along with their unaffected siblings and mothers. They discovered a unique pattern of heteroplasmic mutations, where both mutant and normal mitochondrial DNA sequences exist in a single cell. Children with ASD had more than twice as many potentially harmful mutations compared to unaffected siblings, and 1.5 times as many mutations that would alter the resulting protein. The researchers went on to show that these mutations can be inherited from the mother, or the result of spontaneous mutation during development.

The scientists noted that the risk associated with these mutations is most pronounced in children with lower IQ and poor social behaviour compared to their unaffected siblings. Carrying harmful mutations in mitochondrial DNA is also associated with increased risk of neurological and developmental problems among children with ASD. Because mitochondria play a central role in metabolism, these findings may help explain the metabolic disorders commonly associated with ASD and other neurodevelopmental disorders. Evaluating mutations in the mitochondrial DNA of high-risk families could help improve the diagnosis and treatment of these diseases.

Zhenglong Gu says ‘The result of our study synergizes with recent work on ASD, calling attention to children diagnosed with ASD who have one or more developmental abnormalities or related co-morbid clinical conditions for further testing on mitochondrial DNA and mitochondrial function. Since many neurodevelopmental disorders and related childhood disorders show abnormalities that converge upon mitochondrial dysfunction, and may have mtDNA defects as a common harbinger, future research is needed to elucidate the mitochondrial mechanisms underpinning to these diseases. Ultimately, understanding the energetic aspects of neurodevelopmental disorders may lead to entirely new kinds of treatments, and preventative strategies that would target mitochondria.’

ScienceDaily www.sciencedaily.com/releases/2016/10/161028161729.htm