EKF Diagnostics subsidiary, Selah Genomics, has announced a major, four-way collaboration with Greenville Health System (GHS, South Carolina), DecisionQ Corporation (Virginia), and BD (Becton Dickinson and Company, New Jersey). Expected to last 18 months, the collaboration aims to unite classic clinical annotations with proprietary next generation sequencing (NGS) technology and artificial intelligence-based decision support algorithms in order to improve clinical decision support in the treatment of colon cancer patients. More than eight out of ten US patients are treated in the community, and as many as 60 percent of all patients with solid tumours do not respond to first-line treatment. This results in further treatment cycles, higher cost, elevated toxicity and, perhaps most importantly, lost time. A tool that significantly improves the prognostication for patients by bringing centre of excellence expertise to any clinical setting is therefore highly desirable. Using its PrecisionPath NGS technology, Selah Genomics will first determine the genetic profiles of tumour samples provided by the Institute for Translational Oncology Research, which is part of GHS’s Cancer Institute.  The samples, from colon cancer patients with known outcomes, will be provided with full clinical annotation. DecisionQ will employ its advanced machine-learning platform to integrate genetic profile data with clinical annotations to produce a model that will improve clinical decisions related to the treatment of colon cancer patients. The research project is being funded in part by BD in return for the first opportunity to license the technology should the collaboration be a success. After the initial collaboration, a clinical trial is planned to validate the research and affirm the effectiveness of the new system as a clinical decision support tool for the community-based setting.

www.ekfdiagnostics.com www.selahgenomics.com

Following recent warnings by leading medical experts that early detection of liver disease by GPs in the UK is “virtually non-existent,” Professor W M C Rosenberg, FRCP, Peter Scheuer Chair of Liver Diseases, University College London and Peter Harrison, Managing Director UK at Siemens Healthcare have responded with commentary on how more needs to be done to ensure patients have access to newly available diagnostic treatment as early in the care pathway as possible, before the damage is irreversible.
Peter Harrison, Managing Director UK at Siemens Healthcare commented: “Early detection is key to the prevention and treatment of liver disease, yet a common misconception is that these tests are out of reach or too harmful for the patient to consider.”
“The reality is there are a number of easily-accessible non-invasive tests and extensive work has already gone into the development of both blood tests and non-invasive imaging techniques such as MRI and ultrasound elastography,” continues Peter Harrison. “New, simple tests such as Enhanced Liver Fibrosis (ELF) require only a small blood sample, and can indicate whether a patient suffers from slight, moderate or serious liver disease within the hour. With a range of effective solutions available, more needs to be done to ensure patients have access to diagnostic treatment as early in the care pathway as possible, before the damage is irreversible.”
Professor W M C Rosenberg, FRCP, Peter Scheuer Chair of Liver Diseases, University College London explained, “Once a diagnosis of liver disease has been made, clinicians need to determine the extent of the liver damage. The test we have traditionally had at our hands has been liver biopsy. This has been the only established reference test to quantify liver fibrosis, but it is an uncomfortable, daunting experience for the patient and an expensive process for the healthcare system.”
“The discovery of the ELF markers represents a significant advance in the diagnosis of patients with liver disease, with the potential to save tens of thousands of lives if adopted across England. The simple blood test gives us the ability to identify and quantify diagnosis from an early stage and is much more patient-friendly than existing methods. The test is being evaluated by certain CCGs but a real lack of awareness within the market means the test is not yet widely used. I believe clinicians must not only prepare for wider use of the test, but proactively find out where it sits locally and educate colleagues on the benefits.”

www.siemens.co.uk/healthcare

GNA Biosolutions GmbH (‘GNA’), a company developing ultra-fast diagnostic instruments for human pathogens, announced recently the start of the FILODIAG (Filovirus Diagnostics) project for developing an ultra-fast Ebola detection system based on GNA’s novel Laser PCR technology. GNA is leading a consortium of the Mendel University in Brno (Czech Republic), the Istituto Nazionale per le Malattie Infettive “Lazzaro Spallanzani” (Italy) and the Italian NGO EMERGENCY. The Project Number 115844 of this Ebola+ programme will be funded with EUR 2.3 million by the Innovative Medicines Initiative (IMI2).
There is an urgent need for fast and accurate diagnostic tests in the current and any future Ebola crisis. The rapid diagnosis of Ebola Virus Disease (EVD) during early and late stage of infection is a decisive step for risk assessment and for guidance to physicians to take the necessary decisions to limit the spread of the infection, and to safely nurse the infected patients. While fast and easy-to-use tests usually rely on immuno-diagnostic approaches, they typically lack high sensitivity and specificity. The gold standard for accurate diagnostics is Real-Time PCR but this procedure requires special laboratory facilities and a long processing time of up to several hours.  The aim of the FILODIAG project is to deliver a potentially multiplexed diagnostic system fast enough for point-of-need testing of incoming patients as well as at critical infrastructure checkpoints like airports by withdrawal of blood, or less invasive fluids, such as saliva or urine.
The core technology being used is based on GNA’s laser-heated nanoparticles (Laser PCR) that helps to overcome the time-limiting step of heating and cooling the reaction sample in conventional PCR reactions. GNA have revolutionized this standard procedure by inducing the necessary temperature cycles with laser-heated nanoparticles that can be heated and cooled more than a million times faster than in conventional PCR. GNA has already performed Ebola Laser PCR assays that detect 10 target copies of synthetic nucleotides, corresponding to the Ebola genome sequence, in less than 12 minutes.
Members of the Department of Chemistry and Biochemistry at Mendel University, Brno, will work on integrating the sample preparation with virus-binding magnetic particles. Leading scientist Dr. Vojtech Adam explains: “We will synthesize, characterize and modify the surfaces of nanomaterials to achieve a highly specific binding of viral proteins that will allow for a faster preparation step from patient samples.”
Project coordinator Dr. Lars Ullerich, a Managing Director of GNA, said: “We are working with our international partners to develop a highly sensitive and specific Laser PCR assay based on saliva, urine or blood for Ebola detection. Our proprietary Laser PCR with ten times faster cycles allows us to utilize the gold standard of PCR also in Ebola diagnostics. Together with a label-free detection, the test results will be available in less than 15 minutes. Our Pharos400 system can already detect other highly dangerous pathogens within three minutes and a rapid, simple testing workflow will be crucial to deliver effective support in the management of Ebola outbreaks.”
Dr. Antonino Di Caro, director of microbiology, National Institute for Infectious Diseases “Lazzaro Spallanzani”, will test the device and the assay in a biosafety level 4 laboratory in advance of EMERGENCY conducting field testing in their recently established Ebola treatment centre in Sierra Leone.
The IMI2 Joint Undertaking receives support from the European Union’s Horizon 2020 research and innovation programme and EFPIA. IMI2 has recently launched the programme Ebola+, in which eight funded projects have been announced, including FILODIAG, and two further projects with a diagnostic focus. The FILODIAG project will present future progress on www.filodiag.eu.

www.gna-bio.com

Epilepsy is a brain disorder which afflicts more than 50 million people worldwide. Many epilepsy patients can control their symptoms through medication, but about 30% suffer from intractable epilepsy and are unable to manage the disease with drugs. Intractable epilepsy causes multiple seizures, permanent mental, physical, and developmental disabilities, and even death. Therefore, surgical removal of the affected area from the brain has been practiced as a treatment for patients with medically refractory seizures, but this too fails to provide a complete solution because only 60% of the patients who undergo surgery are rendered free of seizures.

A Korean research team led by Professor Jeong Ho Lee of the Graduate School of Medical Science and Engineering at the Korea Advanced Institute of Science and Technology (KAIST) and Professor Dong-Seok Kim of Epilepsy Research Center at Yonsei University College of Medicine has recently identified brain somatic mutations in the gene of mechanistic target of rapamycin (MTOR) as the cause of focal cortical dysplasia type II (FCDII), one of the most important and common inducers to intractable epilepsy, particularly in children. They propose a targeted therapy to lessen epileptic seizures by suppressing the activation of mTOR kinase, a signalling protein in the brain.

FCDII contributes to the abnormal developments of the cerebral cortex, ranging from cortical disruption to severe forms of cortical dyslamination, balloon cells, and dysplastic neurons. The research team studied 77 FCDII patients with intractable epilepsy who had received a surgery to remove the affected regions from the brain. The researchers used various deep sequencing technologies to conduct comparative DNA analysis of the samples obtained from the patients’ brain and blood, or saliva. They reported that about 16% of the studied patients had somatic mutations in their brain. Such mutations, however, did not take place in their blood or saliva DNA. 

Professor Jeong Ho Lee of KAIST said, “This is an important finding. Unlike our previous belief that genetic mutations causing intractable epilepsy exist anywhere in the human body including blood, specific gene mutations incurred only in the brain can lead to intractable epilepsy. From our animal models, we could see how a small fraction of mutations carrying neurons in the brain could affect its entire function.” KAIST