Autor(es):
Bessa, C. 
; Lopes, Fátima ; Maciel, P.
Data: 2012
Identificador Persistente: http://hdl.handle.net/1822/20437
Origem: RepositóriUM - Universidade do Minho
Detalhes do Documento
Molecular genetics of intellectual disability
Descrição
The goal of this chapter is to review the current knowledge of the genetic causes of intellectual disability, focusing on alterations at the chromosomal and single gene level, with particular mention to the new technological developments, including array technologies and next-generation sequencing, which allowed an enormous increase in yield from genetic studies. The cellular and physiological pathways that seem to be most affected in intellectual disability will also be addressed. Finally, a brief analysis of the contribution of the genetically modified animal models for the study of the pathogenesis of intellectual disability and for the development and testing of novel therapeutic approaches, with unexpectedly good results, previously thought to be impossible to achieve. The chapter will close with some considerations on the relevance and future perspectives of genetic testing in patients with intellectual disability.
The goal of this chapter is to review the current knowledge of the genetic causes of intellectual disability, focusing on alterations at the chromosomal and single gene level, with particular mention to the new technological developments, including array technologies and next-generation sequencing, which allowed an enormous increase in yield from genetic studies. The cellular and physiological pathways that seem to be most affected in intellectual disability will also be addressed. Finally, a brief analysis of the contribution of the genetically modified animal models for the study of the pathogenesis of intellectual disability and for the development and testing of novel therapeutic approaches, with unexpectedly good results, previously thought to be impossible to achieve. The chapter will close with some considerations on the relevance and future perspectives of genetic testing in patients with intellectual disability.
Tipo de Documento
Parte ou capítulo de livro
Idioma Inglês
Idioma Inglês
| Financiadores do RCAAP | |||||||
|
|
|
|
|
|
||