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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In the Lab 34 Clinical OMICs March/April 2018 A new genetic study on autism spectrum disorders (ASD) conducted by Cold Spring Harbor Laboratory (CSHL) and the University of Pennsylvania has shown that damag- ing de novo mutations—that is, those that occur randomly and are not inherited genetically from the parents—are "sig- nificantly and convincingly related to measures of impaired motor skills." The study, published in the Proceedings of the National Academy of Sciences, titled "Damaging de novo mutations diminish motor skills in children on the autism spectrum," used DNA sequence and deep phenotypic data from the Simons Simplex Collec- tion, a core project and resource of the Simons Foundation Autism Research Initiative (SFARI). The set is comprised of data from 2,760 families that have a single child affected by ASD and was collected over five years from 12 universities across the U.S. and Canada. Molecular biologist Michael Wigler, Ph.D., a professor at CSHL, conducted the study along with CSHL professor Ivan Iossifov, Ph.D., who provided the overall molecular framework, and first author Andreas Buja, Ph.D., a statistician from The University of Pennsylvania. Wigler said the study is part of an incremental investigation of autism that is "push- ing a particular perspective on autism that needs to be amplified." A de novo mutation is caused because "DNA is intrinsically prone to mutate," Wigler said. "It spontaneously decays. [That's why] all living things have evolved extremely elab- orate repair mechanisms. We could not exist without this." Every once in a while, DNA escapes repair, which, in the case of de novo mutations, causes autism to occur in "a brief window" in the germ line of the parents, he said. The older the parent, the more likely it is to happen, and there is "no constraint" on the type of damage that can occur this way. It is already known that it is com- mon for children who have autism to have decreased motor skill levels and lower IQs, Wigler said. Currently, children are evaluated according to social and behavioral deficits, not motor skills. The study revealed that there is a clear connection between genetic mutation and motor skills, and it is more sensitive than IQ. Wigler said the study was done in incremental parts. The first showed that when children had known de novo muta- tions, their IQs were much lower "and we extended that to motor skills, so that there's a correlation between having a damag- ing mutation and having decreased motor skills," he said. The second phase of the research showed that motor skills is the more sensitive indicator of that damage than is IQ. Part three found there does not appear to be a correlation between the The Genetics of ASD Cold Spring Harbor Autism Study Sheds New Light on Children with De Novo Mutations By Diana Manos wildpixel / Getty Images

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