07 October, 2016

Strange 'chimeras' defy science's understanding of human genetics

The human genome is far more complex than thought, with genes functioning in an unexpected fashion that scientists have wrongly assumed must indicate cancer, research from the School of Medicine indicates.

Hui Li, PhD, of the UVA School of Medicine and the UVA Cancer Center

Hui Li, PhD, of the Department of Pathology and the UVA Cancer Center, is a pioneer in a small but emerging field that is challenging fundamental assumptions about human genetics. He seeks to understand what is called chimeric RNA – genetic material that results when genes on two different chromosomes produce “fusion” RNA in a way scientists say shouldn’t happen. Researchers have traditionally assumed these chimeric RNA are signs of cancer, of something gone wrong in the genetic transcription process. But Li’s work shows that’s not always the case. Instead, these strange fusions can also be a normal, functional part of our genetic programming.

“This is actually a double-edged sword for cancer diagnosis and treatment. … It basically says the old practice of finding any fusion RNA and claiming it’s a cancer fusion is over. We can’t just say, OK, we found a fusion, it must be a cancer marker, let’s translate it into a biomarker [to detect cancer],” Li said. “That’s actually dangerous. Because a lot of normal physiology also has fusion RNAs. There’s another layer of complexity.”

Full story can be found from University of Virginia website.

FDA cleared Second Generation Parkinson’s KinetiGraph

Global Kinetics Corporation has received notification from the US Food and Drug Administration of 510 (k) marketing clearance for its second generation technology – the PKG™-Watch.

Clearance of this technology signals a major milestone for Global Kinetics, underpinning aggressive expansion into new product and service offers to meet the needs of the Parkinson's community worldwide.

The new technology is a core platform for the company to reach scale in the US, European and Asia Pacific clinical care markets by overcoming previous distribution and data handling constraints. It enables GKC to capitalise on our growing telehealth and clinical trial services businesses, and to build on our already substantial partnerships with global pharmaceutical and device leaders in Parkinson's.

Developed based on extensive feedback from users of the previous-generation PKG™, the Second Generation PKG™ is smaller, more compact and includes a touch sensitive backlit screen with haptic and visual feedback, a water resistance enclosure and mobile charging and data handling capacity.

Source: Global Kinetics Corporation

06 October, 2016

Owlstone Medical Pediatric Disease Breathalyzer CE Approved


Owlstone Medical announced it has developed and received CE mark approval for a paediatric version of the company’s disease breathalyzer, ReCIVA™. The marking extends the scope of breath testing in early stage diagnostics and therapy response to include children and in particular, the difficult to manage group of child asthma patients. Both the adult and pediatric versions of the breathalyzer are now being used in EMBER (East Midlands Breathomics Pathology Node), a £2.5 million project, funded by the Medical Research Council (MRC) and the Engineering and Physical Sciences Research Council (EPSRC). The primary aim of EMBER is to develop breath-based systems for molecular pathology of disease and clinically validate breathomics as a new diagnostic modality.
Currently one in 11 children in the UK has asthma and it is the most common long-term medical condition. Volatile organic compounds (VOCs) in breath have been shown to correlate to inflammatory subtype in asthma, which helps guide better treatment decisions. Owlstone Medical uses the Respiration Collector for In Vitro Analysis (ReCIVA), in combination with the Field Asymmetric Ion Mobility Spectrometer (FAIMS) sensor platform, to accurately and selectively detect volatile organic compounds (VOCs) in breath. In February, the company won an NHS contract for STRATA (Stratification of Asthma Treatment by Breath Analysis) to adapt its disease breathalyzer technology for precision medicine and companion diagnostics in asthma. The paediatric version of ReCIVA is suitable from ages 5 and up and has been developed as breath sampling offers a completely non-invasive way to test children.
Source: Owlstone Medical

Toward visible-light-based imaging for medical devices

MIT researchers have developed a technique for recovering visual information from light that has scattered because of interactions with the environment — such as passing through human tissue.
The technique could lead to medical-imaging systems that use visible light, which carries much more information than X-rays or ultrasound waves, or to computer vision systems that work in fog or drizzle.
Full story is available on MIT website.

Low-cost sensor for cystic fibrosis diagnosis based on citrate

Penn State biomaterials scientists have developed a new, inexpensive method for detecting salt concentrations in sweat or other bodily fluids. The fluorescent sensor, derived from citric acid molecules, is highly sensitive and highly selective for chloride, the key diagnostic marker in cystic fibrosis.

“Salt concentrations can be important for many health-related conditions,” said Jian Yang, professor of biomedical engineering. “Our method uses fluorescent molecules based on citrate, a natural molecule that is essential for bone health.”
Compared to other methods used for chloride detection, Yang’s citrate-based fluorescent material is much more sensitive to chloride and is able to detect it over a far wider range of concentrations. Yang’s material is also sensitive to bromide, another salt that can interfere with the results of traditional clinical laboratory tests. Even trace amounts of bromide can throw off test results. With the citrate-based sensor, Yang’s group can distinguish the difference between chloride and bromide. The group is also working to establish a possible new standard for bromide detection in diagnosis of the disease.
Yang is collaborating with Penn State electrical engineer professor Zhiwen Liu to build a handheld device that can measure salt concentrations in sweat using his citrate-based molecules and a cell phone. This could be especially useful in developing countries where people have limited access to expensive analytical equipment.
“We are developing a platform material for sensing that is low cost, can be automated, requires no titration by trained staff or expensive instrumentation as in hospitals, and provides fast, almost instantaneous, results,” said Liu.
In “Citrate-based fluorescent materials for low-cost chloride sensing in the diagnosis of Cystic Fibrosis,” recently published online in Chemical Science, Yang compared their citrate sensors against the gold standard sweat test performed in a clinical laboratory. Their results were similar.
“Beyond cystic fibrosis, our platform can also be used for many other diseases, such as metabolic alkalosis, Addison’s disease, and amyotrophic lateral sclerosis. All of those diseases display abnormal concentrations of chloride in the urine, serum or cerebral spinal fluid,” Yang said.
According to the U.S. National Library of Medicine, cystic fibrosis is a common genetic disease within the white population in the United States. The disease occurs in 1 in 2,500 to 3,500 white newborns. Cystic fibrosis is less common in other ethnic groups, affecting about 1 in 17,000 African Americans and 1 in 31,000 Asian Americans.”
“According to recommendations from the CF Foundation, Bethesda, MD, all patients undergoing evaluation for possible diagnosis of CF should have sweat testing performed,” said Robert Vender, a pulmonary specialist at Penn State Health Milton S. Hershey Medical Center who treats cystic fibrosis patients. “To date, measurements of sweat chloride — in millimoles per liter — are only used for diagnostic purposes. However, given the recent scientific and medical advances in CF patient-directed therapy and the development and FDA approval of therapies specifically designed to modify cystic fibrosis transmembrane conductance regulator protein function, serial measurements of sweat chloride may have potential as a therapeutic surrogate indicator of drug effect and is currently measured in many pharmaceutical-industry sponsored studies as a response to these novel treatments. The link between the surrogate marker of sweat chloride and actual objective clinical outcomes such as improved lung function still remains to be determined.”
Full story can be found from the Pennsylvania State University website.