The Stago Group recently announced that it has completed the acquisition of HemoSonics LLC, a company specialized in the development of innovative point-of-care testing solutions based in Charlottesville, VA, with facilities in Durham, NC (USA). With the acquisition of the patented SEER technology (Sonic Estimation of Elasticity via Resonance) and its associated Quantra™ Hemostasis Analyser, Stago demonstrates its willingness to develop a point-of-care offering to complete its leadership in hemostasis testing and beyond. This transaction provides Stago with expanded opportunities for future growth and is an important part of the company’s on-going efforts to diversify its portfolio of medical devices in an ever-changing healthcare environment. “This significant step makes us very proud to contribute to the management of healthcare costs and to the improvement of patients outcomes worldwide”, says Lionel Viret, Chairman of the Board. “Stago brings exceptional expertise in the field of Thrombosis and Hemostasis that will greatly advance our efforts to rapidly and effectively deliver a new standard of care for the management of bleeding in the critical care setting” says Timothy Fischer, President and Chief Executing Officer of HemoSonics. Ferghana Partners acted as exclusive financial advisor to HemoSonics for this transaction.
www.stago.com

The results of a study presented at the Annual European Congress of Rheumatology (EULAR) 2017 represent an important step towards characterising the genetic basis of cardiovascular disease (CVD) risk in chronic immune-mediated inflammatory diseases (IMID).
Specific genetic loci (different positions on the chromosome) previously identified as being associate with CVD risk in the general population have been found to be significantly increased in association with CVD risk among chronic IMID patients. From these, 4 loci were found to have different genetic effects across different chronic IMID.  Out of a total of 10 genetic patterns significantly associated with CVD risk across chronic IMID,  showed a highly significant association with CVD risk in rheumatoid arthritis (RA), psoriatic arthritis (PsA), and systemic lupus erythematosus (SLE). Functional analysis of these 2 genetic patterns revealed their role in key pathological mechanisms behind these rheumatic diseases. Previous clinical studies had demonstrated that chronic IMID have a higher prevalence of cardiovascular (CV) events compared to the general population.
This increase in CV events is explained by a combination of accelerated atherosclerosis and endothelial dysfunction with inflammation providing the central link.
 “Our research findings help explain the higher prevalence of cardiovascular events observed in chronic IMID patients compared to the general population,” said lead author Dr. Antonio Julià from the Rheumatology Research Group at the Vall d’Hebron Hospital, Barcelona, Spain. “At this stage, our results are of significance to better understanding the disease process. However, they could also have clinical implications, since some of the associated biological pathways are targeted by current IMID therapies. Gaining a better understanding of the genetic mechanisms underlying CVD risk in these patients could be fundamental to the development of more efficient preventive and treatment strategies,” he explained. A total of 17 genetic loci previously identified as being associated with CVD risk in the general population were found to be significantly associated with CVD risk among the chronic IMID patient groups (p<0.05). From these, 4 of the loci were found to have significantly different genetic effects across these diseases (p<0.05). In addition, 6 genetic loci linked to chronic IMID risk were found to be associated with an increase in CVD risk, for example the RA risk gene CFLAR-CASP8. To identify global genetic patterns associated with CVD risk across different chronic IMID, a so-called ‘cross-phenotype genome-wide meta-analysis’ was carried out, which identified a total of 10 genetic patterns significantly associated with CVD risk in these diseases. Two of these genetic patterns showed a highly significant association with CVD risk in RA, PsA and SLE. Functional analysis of these 2 genetic patterns revealed their role in the key cytokine pathways behind rheumatic disease mechanisms.
To characterise the genetic basis of CVD risk in chronic IMID, genetic profiling was carried out on a total of 6,485 patients with one of six chronic IMID (RA, PsA, SLE, psoriasis, Crohn’s disease and ulcerative colitis) recruited by the Spanish biomedical consortium IMID Consortium. All patients were Caucasian European from Spain. The presence of CVD was defined as having one or more out of ischaemic heart disease (myocardial infarct and angina), stroke and peripheral arterial disease.

European League Against Rheumatism
www.eular.org/congresspressreleases/Genes_explain_higher_prevalence_of_cardiovascular_disease_in_chronic_immune_mediated_inflammatory_disease_patients__OP0292.pdf

In autoimmune diseases, the immune system wrongly identifies its "enemy", and produces antibodies that attack the patient’s own cells. One of these diseases, the anti-phospholipid antibody syndrome (APS), is still poorly understood, even though it can have serious consequences. APS is caused by antibodies circulating in the blood plasma that are directed against a protein, which increase the blood’s tendency to form clots. This can lead to a range of vascular accidents, such as venous thromboses, strokes or repeated miscarriages. Although the prevalence of APS is very difficult to assess, it is likely to affect around 0.5% of the general population. Diagnosing the disease is a complicated affair: the test currently used has a number of problems in terms of variability, specificity and sensitivity. This situation, however, is set to change: researchers at the University of Geneva (UNIGE), Switzerland, and the Geneva University Hospitals (HUG) have succeeded in identifying the exact spot where the anti-phospholipid antibodies attach themselves. This means a more accurate and standardized diagnostic test can now be devised– an undeniable improvement for patients.
In people suffering from APS, antibodies called "anti-Β2GP1" attach themselves to elements found on the surface of certain cells, particularly those of the blood vessels and placenta. They bind themselves to receptors located on the cell membrane, generating a signal that produces the pro-inflammatory and pro-thrombotic factors that cause vascular accidents. By identifying the exact location where these antibodies bind, the research team at UNIGE and HUG have been able to clarify how they function. Karim Brandt, a researcher at the UNIGE Faculty of medicine, explains the importance of this discovery: "The current diagnostic tests use the entire protein, which reduces its specificity and leads to standardization issues.
Consequently, two tests are required at an interval of 12 weeks after a thrombotic episode or following one or more miscarriages. Our new test specifically targets this pathogenic antibody, with rapid and more accurate results."

An antibody with a rather special behaviour
The researchers managed to isolate a "motif", which is a small part of the membrane protein. Motifs are recognized by the antibody, which then binds to it, like a key in a lock. In this instance, the key can open several locks, which correspond to the proteins found on the surface of the cells and induce the pathogenic effects. And if the target protein was identified as such, it is because it is the only protein in all the human proteome to have five of these motifs; it has therefore as many potential binding points for the pathogenic antibody.
APS is usually treated with oral anticoagulants such as low-molecular-weight heparin and aspirin, long-term treatments that are not without side effects, and that must be used with caution by pregnant women. Moreover, treatment becomes very burdensome in patients suffering from the most severe form of the disease, called "catastrophic APS". As Karim Brandt is keen to stress, the researchers are also focusing their working in this direction: "Our breakthrough could also give rise to a targeted treatment that would neutralize specific pathogenic antibodies, reducing not just their actions but also the side effects associated with the current treatment. It would involve injecting the protein motif we have identified into a patient’s circulatory system so that it explicitly binds itself to the pathogenic antibody and prevents it from causing harm."
For the time being, the diagnostic test needs to be optimized for prototypes to be developed. To ensure its validity, the researchers will reanalyze hundreds of samples already tested with the old method and compare results.

EurekAlert
www.eurekalert.org/pub_releases/2017-06/udg-ant061417.php

AP-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

Researchers 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