Clinical OMICS

JAN-FEB 2017

Healthcare magazine for research scientists, labs, pathologists, hospitals, cancer centers, physicians and biopharma companies providing news articles, expert interviews and videos about molecular diagnostics in precision medicine

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8 Clinical OMICs January/February 2017 News bring NK cells and T cells into close prox- imity and trigger a signal cascade that leads to the destruction of cancer cells, according to information provided by the company. Affimed currently has five clini- cal programs running; the most advanced is its Phase II program with its candidate TandAb AFM13, targeting the tumor marker CD30 for Hodgkin's lymphoma. "In our effort to broaden the applica- tions of our NK-cell engager products, we are excited to partner with the world-lead- ing NK-cell experts at MD Anderson to investigate their unique product together with our first-in-class NK-cell engager AFM13 in Hodgkin's lymphoma," said Adi Hoess, Ph.D., CEO of Affimed. "Harnessing the advantages of both antibody-based and cell-therapy approaches has the potential to better exploit the therapeu- tic activity of NK cells." HudsonAlpha IDs New Genetic Variant Connected to Intellectual, Developmental Delay HudsonAlpha Institute for Biotechnology researchers, in a cooperative effort with an international team of collaborators from six countries, recently identified a new genetic variant in the EBF3 gene that causes intellectual and develop- mental delay in children. The research "Mutations in EBF3 Disturb Transcrip- tional Profiles and Cause Intellectual Dis- ability, Ataxia, and Facial Dysmorphism" was published online in the American Journal of Human Genetics (AJHG). "Essentially, we did experiments to understand how variants in the EBF3 gene might change its function during development," said Drew Hardigan, a graduate student at HudsonAlpha and a co-lead author. "The role of EBF3 had been studied in terms of neural devel- opment, but had not been previously described as a gene in which mutations cause intellectual and developmental delay. We were able to demonstrate that changes to the gene are the cause of a clinical disorder." The finding arose from the lab of Hud- sonAlpha faculty investigator Greg Coo- per, Ph.D., who was the senior author for the report. Through ongoing work under an NHGRI grant for the diagnosis of unex- plained intellectual and developmental disabilities, Cooper's team identified two separate patients via genomic sequenc- ing and analysis that had EBF3 variations. When the HudsonAlpha team could not find any similar cases or publica- tions to confirm the EBF3 variations were causing the patients' symptoms, they turned to GeneMatcher to connect with researchers around the world who were also interested in variations of unknown significance in EBF3. Once connected, the international group performed a statistical analysis confirming the gene was very likely the cause of the symptoms for 10 patients. The experiments showed that the genetic changes to EBF3 disrupt import- ant functions required for normal devel- opment. They also found that changes in this gene were likely the cause of about one in every 1,000 patients with unex- plained neurodevelopmental disorders. New Blood Test Predicts Survival for Ebola Patients An international research effort led by scientists at the University of Liver- pool have published research showing that the method they used with blood samples taken from infected and recov- ering patients during the 2013–2016 West Africa Ebola outbreak can identify gene products that are strong predictors of patient outcome. "The data demonstrate that individu- als who succumbed to the disease show stronger upregulation of inter feron signaling and acute phase responses compared to survivors during the acute phase of infection. Particularly notable is the strong upregulation of albumin and fibrinogen genes, which suggest significant liver pathology," wrote the investigators. Julian Hiscox, Ph.D., virologist at the University of Liverpool's Institute of Infection and Global Health, said: "Our study provides a benchmark of Ebola virus infection in humans, and suggests that rapid analysis of a patient's response to infection in an outbreak could pro- vide valuable predictive information on disease outcome." n (continued from previous page) Frederick Murphy / CDC HudsonAlpha Greg Cooper, Ph.D., HudsonAlpha Institute

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