Simons Variation in Individuals Project (Simons VIP): A Genetics-First Approach to Studying Autism Spectrum and Related Neurodevelopmental Disorders

We describe a project aimed at studying a large number of individuals (>200) with specific recurrent genetic variations (deletion or duplication of segment 16p11.2) that increase the risk of developing autism spectrum (ASD) and other developmental disorders. The genetics-first approach augmented...

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Veröffentlicht in:	Neuron (Cambridge, Mass.) Mass.), 2012-03, Vol.73 (6), p.1063-1067
1. Verfasser:	The Simons VIP Consortium
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Autism Bipolar disorder Child Child Development Disorders, Pervasive - diagnosis Child Development Disorders, Pervasive - genetics Child Development Disorders, Pervasive - physiopathology Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 16 - genetics Developmental Disabilities - diagnosis Developmental Disabilities - genetics Developmental Disabilities - physiopathology Family Health Female Genetic Predisposition to Disease - genetics Genetic Testing Genetics Humans Infant Information Dissemination Male Mental disorders Neurodegenerative Diseases - diagnosis Neurodegenerative Diseases - genetics Neurodegenerative Diseases - physiopathology Neurodevelopmental disorders Neuroimaging Neurophysiology Phenotype Recruitment Retrospective Studies Studies Vasoactive intestinal peptide
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Beschreibung
Zusammenfassung:	We describe a project aimed at studying a large number of individuals (>200) with specific recurrent genetic variations (deletion or duplication of segment 16p11.2) that increase the risk of developing autism spectrum (ASD) and other developmental disorders. The genetics-first approach augmented by web-based recruitment, multisite collaboration and calibration, and robust data-sharing policies could be adopted by other groups studying neuropsychiatric disorders to accelerate the pace of research.
ISSN:	0896-6273 1097-4199 1097-4199
DOI:	10.1016/j.neuron.2012.02.014