Data/hora: 11/06/2024 09:02:22

Provedor de dados: | 74
País: | Brazil
Título: | Neuromuscular disorders: genes, genetic counseling and therapeutic trials
Autores: | Zatz,Mayana; Passos-Bueno,Maria Rita; Vainzof,Mariz.
Data: | 2016-09-01
Ano: | 2016
Palavras-chave: | Genetic diseases; Genetic counseling; Neuromuscular disorders; Stem cells; Therapies.
Resumo: | Abstract Neuromuscular disorders (NMD) are a heterogeneous group of genetic conditions, with autosomal dominant, recessive, or X-linked inheritance. They are characterized by progressive muscle degeneration and weakness. Here, we are presenting our major contributions to the field during the past 30 years. We have mapped and identified several novel genes responsible for NMD. Genotype-phenotype correlations studies enhanced our comprehension on the effect of gene mutations on related proteins and their impact on clinical findings. The search for modifier factors allowed the identification of a novel "protective"; variant which may have important implication on therapeutic developments. Molecular diagnosis was introduced in the 1980s and new technologies have been incorporated since then. Next generation sequencing greatly improved our capacity to identify disease-causing mutations with important benefits for research and prevention through genetic counseling of patients' families. Stem cells researches, from and for patients, have been used as tools to study human genetic diseases mechanisms and for therapies development. The clinical effect of preclinical trials in mice and canine models for muscular dystrophies are under investigation. Finally, the integration of our researches and genetic services with our post-graduation program resulted in a significant output of new geneticists, spreading out this expertise to our large country.
Tipo: | Info:eu-repo/semantics/article
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000300339
Editor: | Sociedade Brasileira de Genética
Relação: | 10.1590/1678-4685-GMB-2016-0019
Formato: | text/html
Fonte: | Genetics and Molecular Biology  v.39 n.3 2016
Fonte: | info:eu-repo/semantics/openAccess