Health scientists at the University of Leicester and University of Nottingham have heralded the discovery of a gene associated with lung fibrosis as ‘a potential new avenue of treatment for further research into this terrible disease.’
Idiopathic Pulmonary Fibrosis (IPF) is a debilitating lung disease, affecting ~6,000 new people each year, where scarring (fibrosis) of the lungs makes it difficult to breathe.
IPF, on average, results in death 3 years after diagnosis. There is no cure for IPF, and currently available drugs can only slow the disease down, and do not stop, or reverse, it. Furthermore, some patients may suffer unpleasant side-effects. A better understanding of the disease is needed to develop even more effective treatments.
Researchers Professor Louise Wain from the University of Leicester and Professor Gisli Jenkins from the University of Nottingham were lead authors of the study.  They analysed the DNA from over 2700 people with IPF and 8500 people without IPF from around the world and found that people with IPF are more likely to have changes in a gene called AKAP13.
The researchers were also able to show that these DNA changes affect how much AKAP13 protein is produced by the gene in the lungs.  Researchers know from other studies, that AKAP13 is part of a biological pathway that promotes fibrosis (or scarring) and importantly that this biological pathway can be targeted with drugs. Taken together, the findings suggest targeting this pathway with drugs in people with IPF might lead to new treatments. To confirm this, the research team now need to undertake more detailed studies into the role of AKAP13 in people with IPF.
The work was led by researchers at Leicester and Nottingham and brought together collaborators from around the world to form the largest combined analysis of people with IPF undertaken to date.

Leicester University
www2.le.ac.uk/offices/press/press-releases/2017/october/leicester-and-nottingham-scientists-discover-new-gene-associated-with-debilitating-lung-disease

An international team of researchers has identified genomic mutations for Carey-Fineman-Ziter (CFZS) syndrome, a very rare congenital myopathy (inherited muscle disorder) characterized by facial weakness, a small or retracted chin, a cleft palate and curvature of the spine (scoliosis), among other symptoms. The researchers determined that CFZS is caused by mutations in the gene MYMK that encodes for the protein myomaker. This protein is necessary for the fusion of muscle cells (myoblasts) into muscle fibres (myotubes) during the development of an embryo and the regeneration of muscle cells after injury.
"Advances in genomics technology and the power of team science have enabled us to identify the cause of this very rare disease 35 years after it was first described by Dr. John Carey and colleagues from the University of Utah," said National Institutes of Health Director Francis S. Collins, M.D., Ph.D., a co-author of the study.
"This discovery will improve physicians’ ability to diagnose this disease and offer families accurate genetic counselling and treatment," said Irini Manoli, M.D., Ph.D., co-lead author and a physician scientist and staff clinician in the Medical Genomics and Metabolic Genetics Branch at the National Human Genome Research Institute (NHGRI), part of NIH. People affected with CFZS have sometimes been misdiagnosed with Moebius syndrome, another very rare disorder characterized by facial paralysis.
Dr. Manoli said that uncovering that cell-cell fusion deficits can lead to congenital myopathies (inherited muscle disease) opens a new path of exploration for therapies for CFZS and other muscular diseases and tools for regenerating muscle. "In addition," she said, "this rare genetic syndrome provides novel insights into the effects of muscle development on craniofacial and skeletal bone formation."
The goal of the study was to learn more about the genetics and clinical characteristics of Moebius syndrome and other congenital facial weakness disorders. Toward this end, the consortium brought 63 people to the NIH Clinical Center affected with Moebius syndrome and other inherited facial weakness disorders, and their families for detailed multi-system evaluations, including brain and muscle imaging studies and muscle biopsies. The researchers collaborated through the Opportunities for Collaborative Research at the NIH Clinical Center, a new funding mechanism that encourages intramural and extramural researchers to work together at the NIH Clinical Center.
Researchers performed detailed phenotyping (identifying physical traits that are the result of a DNA sequence). They also employed the most up-to-date genomic tools, including exome sequencing of blood DNA in affected siblings from three unrelated families, as well as a muscle biopsy in one of the affected individuals. To identify the genomic mutations associated with CFZS, three laboratories – led separately by Elizabeth Engle, M.D., at the Boston Children’s Hospital, Stephen Robertson, M.D., from the University of Otago and John Carey, M.D., at the University of Utah – analysed exome sequence data from each of the three families. Among the genes harbouring mutations identified in each family, only the gene MYMK was common to all three. A knockout mouse model (genomically altered mice that are bred to lack a specific gene) displayed a complete lack of muscle development, leading to early death of the newborn mice, making this gene a promising candidate for further studies.
Using CRISPR-Cas9 technology, a tool for editing DNA at precise locations, a team led by Silvio Alessandro Di Gioia, Ph.D., and Dr. Engle, generated zebrafish with a mutated mymk gene. Affected mutant zebrafish were smaller and had abnormal muscle development and jaw deformities, resembling the patient phenotype. The researchers then performed further functional studies to validate the severity of each of the genomic mutations.
The researchers were able to correct affected zebrafish’s muscles by injecting the normal human MYMK gene product into the mutant fish. This success lends hope for restoring MYMK function in muscles as a treatment for CFZS and for reducing any potentially progressive features of this disorder.
Only eight people in the world have been diagnosed with CFZS with MYMK mutations, in part, because it hasn’t been readily recognized. Now that researchers have identified the genomic cause underlying the syndrome, it can be added to the diagnostic gene panels for congenital myopathies. This will improve the speed and accuracy of diagnosis and add to the understanding of the spectrum of disease severity and outcome, Dr. Manoli said.

The National Human Genome Research Institute (NHGRI)
www.genome.gov/27568961/2017-news-release-nih-and-collaborators-identify-the-genomic-cause-for-careyfinemanziter-syndrome/

Siemens Healthineers has entered into a definitive agreement to acquire Epocal Inc., a subsidiary of Alere Inc. Epocal Inc. develops and provides point-of-care blood diagnostic systems for healthcare enterprises, including the epoc Blood Analysis System, a handheld, wireless testing solution. Financial details of the transaction are not being disclosed. The transaction is subject to the completion of Abbott’s acquisition of Alere, as well as antitrust approvals and other customary closing conditions.
“We want to help our customers innovate care delivery. As one of the market leaders in blood gas, the acquisition of the epoc product line will enable us to provide the right solution in the right setting, all from one partner,” said Peter Koerte, President, Point of Care Diagnostics, Siemens Healthineers. “The epoc product line will seamlessly integrate with our digital ecosystem offering customers the broadest solution available in the market. The acquisition complements our existing offerings in the point of care diagnostics space, with a view to provide customers globally with a full range of blood gas solutions.”
Healthcare systems continue to look for ways to elevate patient experience and satisfaction as well as the quality of care. It is a strategic goal of Siemens Healthineers to support healthcare providers worldwide to meet their challenges and excel in their respective environments. Health networks may have varying testing needs near to their patients at the point of care in physician’s offices, clinics, emergency departments and labs. With a complete offering for blood gas diagnostics from a low-volume, single-use handheld device up to a high-volume, multi-use benchtop solution, Siemens Healthineers can help customers improve their workflows and utilize the correct system for the needs of their particular settings.
Arterial blood gases are an important routine investigation to monitor the acid-base balance of patients. They play an important role in the work-up and management of critically ill patients and may help in diagnosing pulmonary and metabolic disorders. They indicate the severity of a condition and help to assess treatment. Blood gas test systems are an important component in critical care settings such as hospitals, clinics, emergency departments and pulmonary laboratories.
The epoc Blood Analysis System is a handheld, wireless testing solution that provides blood gas, electrolyte and metabolite results near the patient in approximately 30 seconds after sample introduction. The epoc Blood Analysis System is comprised of the epoc room-temperature stable BGEM test card, epoc reader and epoc host2 mobile computer. Each single-use epoc BGEM test card features smartcard technology with a full menu of tests on one card.
www.siemens.com/healthineers

An assay that identifies a peculiar but important abnormality in cancer cells has been developed and validated by researchers at The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (OSUCCC – James).
The assay, called OSU-SpARKFuse (Ohio State University-Spanning Actionable RNA Kinase Fusions), detects a genetic change called gene fusions in solid tumours.
Gene fusions happen when parts of two different genes join together. Gene fusions can happen, for example, when a piece of one chromosome becomes attached to another. Such chromosome “translocations” can join two genes that together become a major driver of cancer-cell and tumour growth.
Targeted therapies are becoming increasingly available that block the activity of fusion genes, particular those involving kinase genes. Whereas current assays for detecting gene fusions require previous knowledge of both genes involved in the fusion, OSU-SpARKFuse was designed to accurately detect fusions when only one of the genes is known, which allows for the discovery of novel gene fusions.
“We designed OSU-SpARKFuse to meet these needs and to identify patients who are eligible for novel therapies such as FGFR inhibitors or NTRK inhibitors that target gene fusions,” says principal investigator Sameek Roychowdhury, MD, PhD, assistant professor in the Division of Medical Oncology at Ohio State.
“Along with detecting gene fusions, OSU-SpARKFuse can provide gene-expression analysis, detect single-nucleotide changes and identify alternative splicing events and resistance genes,” says first author Julie Reeser, PhD, technical supervisor of the OSUCCC – James Cancer Genomics Laboratory.
“Additionally, OSU-SpARKFuse does not require information regarding the location of the fusion in each gene. It is an accurate, reproducible, cost-effective assay that detects gene fusions across many genes and from the small samples of tumour tissue obtained by biopsy,” Reeser adds.
The Ohio State University Comprehensive Cancer Centerhttp://tinyurl.com/yczce7e2

The European Patent Office has announced Dutch product manager Jan van den Boogaart (57) and Austrian researcher Prof. Dr. Oliver Hayden (45) as finalists for the 2017 Inventor Award in the “Industry” category. The two Siemens Healthineers employees have invented an automated method for detecting the life-threatening disease malaria. On the basis of their own research, they jointly developed a method for the Siemens Healthineers Advia 2120i hematology systembased on a combination of parameters that define whether a patient has  malaria. With this method, the Advia 2120i hematology system can run malaria tests automatically as part of a full blood panel. The great advantage is the high throughput at lower cost than with other methods, such as microscopic examination.
Until now, the most reliable method has been a microscopic examination of the blood for plasmodia, which calls for experienced, trained personnel, as recognizing plasmodia under the microscope is not easy. The process is also very time-consuming. In recent years, malaria has also been diagnosed more and more with fast tests: a test strip that detects parasite-specific antigens. But if used improperly, that test is unreliable, and it’s also expensive. www.siemens.com/press/PR2017040278HCENwww.epo.org/news-issues/press.html