Expression Profiling and Population Structure Analysis of Copy Number Variants (CNVs) in Autism Spectrum Disorder (ASD): 1st Triennium Post Doc Fellowship Report

Detalhes bibliográficos
Autor(a) principal: Pires Carreira da Conceição, Inês Susana
Data de Publicação: 2013
Tipo de documento: Relatório
Idioma: por
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.18/2208
Resumo: Fellowship: SFRH/BPD/74739/2010
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spelling Expression Profiling and Population Structure Analysis of Copy Number Variants (CNVs) in Autism Spectrum Disorder (ASD): 1st Triennium Post Doc Fellowship ReportPerturbações do Desenvolvimento Infantil e Saúde MentalAutism Spectrum DisorderFellowship: SFRH/BPD/74739/2010Autism Spectrum Disorder (ASD) is a common complex behavioral disorder with significant clinical heterogeneity and unclear etiology. Assessment protocols and diagnostic instruments are complex to implement, and not widely used by most clinical practitioners or pediatricians worldwide. It is well known that educational interventions, language and behavioral therapies may significantly improve the patient’s quality of life, and are particularly beneficial when initiated at a young age. While the contribution of genetic factors for ASD etiology has been clearly established by family and twin studies, common risk genes accounting for a high proportion of autism heritability have not yet been identified1. At the same time, the increased burden of rare variants in ASD is increasingly recognized from genomic screening in large population samples. The latest genome wide association studies (GWAS) have failed to find common risk variants with a significant impact, however all have shown an excess of rare and heterogeneous structural variants designated Copy Number Variants (CNV). The significance of most of these rare CNVs for etiological diagnosis of ASD still needs to be properly addressed. The importance of rare variation in autism has also been supported by the many reports of rare mutations in synaptic candidate genes (such as SHANK, MET, NLGN, NRNX amongst others). It seems likely that both common low risk genes and rare, high penetrance, variants will converge in a restricted number of biological pathways. Our group is part of the international consortium Autism Genome Project (AGP), which gathers more than 100 scientists in 13 investigation centers. Recently it has been conducting a Genome Wide Association Study (GWAS), with more than 3000 families of autistic patients, including 342 Portuguese families. In this GWAS analysis, almost 40.000 CNVs were identified in patients and parents, the functional consequences and relevance of these CNVs is being analyzed. Also, the correlation between genetic and clinical data in a large scale sample is uncommon, but very important for a better characterization of the pathology. Our sample has the major advantage of a detailed clinical evaluation following the Autism Speaks project funded The Autism Trio Collection (TASC) project.Instituto Nacional de Saúde Doutor Ricardo Jorge, IPRepositório Científico do Instituto Nacional de SaúdePires Carreira da Conceição, Inês Susana2014-03-31T16:42:57Z2013-012013-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/reportapplication/pdfhttp://hdl.handle.net/10400.18/2208porinfo:eu-repo/semantics/embargoedAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:39:09Zoai:repositorio.insa.pt:10400.18/2208Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:37:15.236592Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Expression Profiling and Population Structure Analysis of Copy Number Variants (CNVs) in Autism Spectrum Disorder (ASD): 1st Triennium Post Doc Fellowship Report
title Expression Profiling and Population Structure Analysis of Copy Number Variants (CNVs) in Autism Spectrum Disorder (ASD): 1st Triennium Post Doc Fellowship Report
spellingShingle Expression Profiling and Population Structure Analysis of Copy Number Variants (CNVs) in Autism Spectrum Disorder (ASD): 1st Triennium Post Doc Fellowship Report
Pires Carreira da Conceição, Inês Susana
Perturbações do Desenvolvimento Infantil e Saúde Mental
Autism Spectrum Disorder
title_short Expression Profiling and Population Structure Analysis of Copy Number Variants (CNVs) in Autism Spectrum Disorder (ASD): 1st Triennium Post Doc Fellowship Report
title_full Expression Profiling and Population Structure Analysis of Copy Number Variants (CNVs) in Autism Spectrum Disorder (ASD): 1st Triennium Post Doc Fellowship Report
title_fullStr Expression Profiling and Population Structure Analysis of Copy Number Variants (CNVs) in Autism Spectrum Disorder (ASD): 1st Triennium Post Doc Fellowship Report
title_full_unstemmed Expression Profiling and Population Structure Analysis of Copy Number Variants (CNVs) in Autism Spectrum Disorder (ASD): 1st Triennium Post Doc Fellowship Report
title_sort Expression Profiling and Population Structure Analysis of Copy Number Variants (CNVs) in Autism Spectrum Disorder (ASD): 1st Triennium Post Doc Fellowship Report
author Pires Carreira da Conceição, Inês Susana
author_facet Pires Carreira da Conceição, Inês Susana
author_role author
dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv Pires Carreira da Conceição, Inês Susana
dc.subject.por.fl_str_mv Perturbações do Desenvolvimento Infantil e Saúde Mental
Autism Spectrum Disorder
topic Perturbações do Desenvolvimento Infantil e Saúde Mental
Autism Spectrum Disorder
description Fellowship: SFRH/BPD/74739/2010
publishDate 2013
dc.date.none.fl_str_mv 2013-01
2013-01-01T00:00:00Z
2014-03-31T16:42:57Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
format report
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.18/2208
url http://hdl.handle.net/10400.18/2208
dc.language.iso.fl_str_mv por
language por
dc.rights.driver.fl_str_mv info:eu-repo/semantics/embargoedAccess
eu_rights_str_mv embargoedAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Instituto Nacional de Saúde Doutor Ricardo Jorge, IP
publisher.none.fl_str_mv Instituto Nacional de Saúde Doutor Ricardo Jorge, IP
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
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