Project description:Novel candidate genes, including MIS18BP1, for Autism Spectrum Disorders identified by whole-exome sequencing in the Lebanese population
Project description:Ultimately, autism is classified as an early neurodevelopmental disorder, highly heterogeneous and with a heritability of between 40% and 90%. Transcriptome studies have already been done in subjects with autism, but we decided to perform such a study on our own cohort of Sicilian subjects with autism. the results obtained show the involvement of differentially expressed genes involving inflammatory mechanisms and the mitochondrilae system.
Project description:Diversity clinical phenotypes of autism spectrum disorders (ASD), caused by heterogeneity of genetic and environmental factors, hampered the investigation in uncovering pathological mechanisms. Here we generated ASD patient-cerebral organoids from induced pluripotent stem cells (iPSCs) that reprogramed from the early-onset ASD individuals at around 2 years old with common clinical diagnosis in a prospective birth cohort, which was excluded typical autistic mutations and environmental exposures.
Project description:Individualized outcome prediction classifiers were successfully constructed through expression profiling of 91 up-regulated and 67 down-regulated miRNAs in 5 autism spectrum disorder (ASD) cases and 5 controls. In the study presented here, a well-defined cohort of 5 autism spectrum disorder cases and 5 controls was used to acquire expression profiles of 91 up-regulated and 67 down-regulated miRNAs, leading to the first global miRNA expression profile of ASD in China.
Project description:In order to unveil the molecular mechanisms at play during the development of autistic brains, we studied cells that are representative of the very early stages of ontogenesis, namely stem cells. We used nasal olfactory stem cells that are readily accessible and can be biopsied safely. We recruited a relatively homogeneous cohort of nine adults with severe autism and low to very low developmental disabilities, and included two more adults with either Asperger syndrome or high-functioning autism, to enlarge the spectrum. The cohort was then paired with 11 age- and gender-matched control individuals. Stem cells were purified, banked and used for a transcriptomic study. Two-colors experiment. The cohort was then paired with 11 age- and gender-matched control individuals. Stem cells were purified, banked and used for a transcriptomic study. Validation by reverse transcription design.