PUBLIC RELEASE DATE: 8-Dec-2014 Contact: Masaki Fukata mfukata@nips.ac.jp National Institutes of Natural Sciences Researchers found out that the conformational defect in a specific protein causes Autosomal Dominant Lateral Temporal Lobe Epilepsy (ADLTE) which is a form of familial epilepsy. They showed that treatment with chemical corrector called "chemical chaperone" ameliorates increased seizure susceptibility in a mouse model of human epilepsy by correcting the conformational defect. This was published in Nature Medicine (December 8, 2014 electronic edition). Mutations in the gene LGI1, encoding a secreted protein, cause familial temporal lobe epilepsy. The research group of Professor Masaki Fukata, Associate Professor Yuko Fukata, and Assistant Professor Norihiko Yokoi of the National Institute for Physiological Sciences (NIPS), National Institutes of Natural Sciences (NINS), in collaboration with the group of Professor Masahiko Watanabe of the Hokkaido University Graduate School of Medicine, Professor Dies Meijer of the Erasmus University Medical Center in the Netherlands, and Professor Takao Hamakubo of the Research Center for Advanced Science and Technology, The University of Tokyo, investigated 22 mutations in the LGI1 gene found in patients with human epilepsy. In 19 mutations, LGI1 mutant protein was secretion-defective. One of these mutations was introduced to mice which produced symptoms of epilepsy. … Continue reading →

Published December 10, 2014 A new study on gene expression in brains affected by autism revealed a shared pattern of ramped-up immune responses that researchers say may lead to possible treatment options for some symptoms of the developmental disorder. Researchers from John Hopkins and the University of Alabama at Birmingham analyzed data collected from 72 autopsied autism and control brains. The findings, published in the journal Nature Communications, focused on samples from two different tissue banks and compared the gene expressions in people with autism to that in controls without the condition. The study used the largest data set so far in a study of gene expression in autism. Dr. Dan Arking, associated professor in the McKusick-Nathans Institute for Genetic Medicine at Johns Hopkins University School of Medicine said that previous studies of whether and how much genes were being used in brains with autism involved too little data to draw conclusions. Arking said the scarcity of data was because gene expression testing can only be performed on the specific tissue. Earlier studies pinpointed autism-associated abnormalities in cells that support neurons in the brain and spinal cord, but in this study Arkings said the team was able to target a … Continue reading →

Google and an autism research group have launched a new program to help scientists study autism and come up with new treatment options. The group is Autism Speaks, an organization founded by Suzanne and Bob Wright after one of their grandchildren was diagnosed with autism. Bob Wright is the former vice chairman of General Electric and former CEO of NBC and NBC Universal. Autism Speaks has teamed up with Google for a project called MSSNG to create the worlds largest database of genetic information on people with autism. The director of MSSNG is a famous geneticist, Stephen Scherer. Google has actually been working with Autism Speaks on this project since the summer. The news on Tuesday is that the database will now be freely shared to other scientists. The project aims to sequence the whole genomes of more than 10,000 individuals with autism and their families. Autism Speaks describes the project like this: Valued at $50 million, MSSNG aims to sequence and analyze the whole genomes of 10,000 individuals in families affected by autism an unprecedented undertaking that will provide the global autism research community with a platform to answer some of the most vexing questions about the disorder. ... … Continue reading →

New York, N.Y. (PRWEB) December 09, 2014 Autism Speaks, the worlds leading autism science and advocacy organization, today launched MSSNG, a new awareness campaign to support the development of the worlds largest database of sequenced genomic information on people with autism spectrum disorder and their family members. Autism Speaks is collaborating with Google to store sequenced data from MSSNG on the Google Cloud Platform, providing an open resource for scientists worldwide to access and share autism research. MSSNG is a significant milestone in advancing genomic research of autism and could lead to breakthroughs into the causes, subtypes and better diagnosis and treatment for the disorder. Valued at $50 million, MSSNG aims to sequence and analyze the whole genomes of 10,000 individuals in families affected by autism an unprecedented undertaking that will provide the global autism research community with a platform to answer some of the most vexing questions about the disorder. The name MSSNG (pronounced missing the vowels are omitted to represent the missing pieces of the autism puzzle that researchers hope to find) is symbolic of the questions or missing information about autism and its causes. The campaign will enable discoveries in genomics research that advance medical care and … Continue reading →