Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders
Year: 2016
Type: article
Abstract: Research in the genetics of neurodevelopmental disorders such as autism suggests that several hundred genes are likely risk factors for these disorders. This heterogeneity presents a challenge and an opportunity at the same time. Although the exact identity of many of the genes remains to be discovered, genes identified to date encode proteins that play roles in certain conserved pathways: protein synthesis, transcriptional and epigenetic regulation, and synaptic signaling. The next generation of research in neurodevelopmental disorders must address the neural circuitry underlying the behavioral symptoms and comorbidities, the cell types playing critical roles in these circuits, and common intercellular signaling pathways that link diverse genes. Results from clinical trials have been mixed so far. Only when we can leverage the heterogeneity of neurodevelopmental disorders into precision medicine will the mechanism-based therapeutics for these disorders start to unlock success.
Authors: Sahin, Mustafa, Sur, Mriganka
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
Funders: U.S. Department of Defense, Autism Speaks, Rare Diseases Clinical Research Network, National Institutes of Health, National Institute of Mental Health, National Institute of Neurological Disorders and Stroke, National Center for Advancing Translational Sciences, Eunice Kennedy Shriver National Institute of Child Health and Human Development
Awards: G1843269047, G2800195642, Early Biomarkers of Autism Spectrum Disorders in infants with Tuberous Sclerosis, G4119534169, Potential EEG biomarkers and antiepileptogenic strategies for epilepy in TSC, G5107519999, G5850682332, G7117801258, G7216696662, Intellectual and Developmental Disablities Research Center, G8632625050, G9000159927, G9000192735, Early developmental mechanisms of Rett Syndrome, Developmental Synaptopathies Associated with TSC, PTEN, SHANK3 and SynGAP1 Pathogenic Variants
OpenAlex ID: W2517489588