Clinical OMICS

MAR-APR 2018

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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Page 36 of 51 March/April 2018 Clinical OMICs 35 damaging mutations and behavioral defects, which "creates something of a puzzle that needs explanation," he said. The paper does not provide an expla- nation with proof, but it does provide a variety of hypotheses, Wigler said. The one he favors proposes that genetic autism is milder because those carrying it were able to function well enough to have children, those who could not would have died without passing the gene on. According to Wigler, the study was possible because of the nature of the collection, which focused on simplex autism, or families with only one child with autism. Most collections are mul- tiplex, with two or more children in the family with the disease, he said. Catherine Lord, Ph.D., an author on the paper, and a professor at Colum- bia University, has been involved in the development of standardized diagnostic instruments for ASD. She said the study is helpful because there isn't much research on motor skills and autism, in part because because there are fewer measures available for motor skills, while IQ measurements are more standardized. Scientists still do not know exactly how the motor disabilities in ASD children relate to IQ, she said. Lord doesn't feel the study is likely to immediately change how autism is evaluated, but she hopes it might be used to tell families with an individ- ual child with autism what patterns to expect in the child's development, so that treatment can be more focused. Lord was instrumental in collect- ing the data and is pleased with the standards that were used, how it was entered and curated, and with the complex math that went behind draw- ing information from the data, while controlling for many variables. "It really is an amazing dataset," she said, when compared with the National Institutes of Health's National Data- base for Autism Research, available by grant, that does not provide the exact diagnosis of the child and doesn't have standards for how the data are collected. Professor David Skuse, M.D., an expert in ASD and head of Behavioural and Brain Sciences at the Institute of Child Health in London, said the study is "the most carefully done work of its type" that he has seen. The U.K. has Huntington Disease siRNA a 'Super-Assassin' of Tumor Cells A new study from a team of investiga- tors at Northwestern University Feinberg School of Medicine has discovered why Huntington Disease (HD) is so toxic to can- cer cells, and are harnessing it as a novel approach to treat cancer. HD is caused by an overabundance of a certain type of repeating RNA sequences in one gene, huntingtin, present in every cell. These repeating sequences—in the form of so-called small interfering RNAs (siRNAs)—attack genes in the cell that are critical for survival. Nerve cells in the brain are vulnerable to this form of cell death. However, cancer cells appear to be much more susceptible. "This molecule is a super-assassin against all tumor cells," noted senior study investigator Marcus Peter, Ph.D., professor of cancer metabolism. "We've never seen anything this powerful." To test the "super-assassin" molecule in a treatment scenario, the Northwestern team delivered the molecule in nanopar- ticles to mice with human ovarian cancer. The treatment significantly reduced the tumor growth with no toxicity to the mice. More importantly, the tumors did not develop resistance to this form of cancer treatment. n (continued on next page) A de novo mutation is caused because "DNA is intrinsically prone to mutate." —Michael Wigler, Ph.D. Cold Spring Harbor Laboratories Michael Wigler, Ph.D., Cold Spring Harbor Laboratories ALFRED PASIEKA / SCIENCE PHOTO LIBRARY / Getty Images

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