Data/hora: 09/06/2024 17:26:33

Provedor de dados: 	74	
País: 	Brazil	
Título: 	Population medical genetics: translating science to the community	
Autores: 	Giugliani,Roberto; Bender,Fernanda; Couto,Rowena; Bochernitsan,Aline; Brusius-Facchin,Ana Carolina; Burin,Maira; Amorim,Tatiana; Acosta,Angelina Xavier; Purificação,Antônio; Leistner-Segal,Sandra; Saraiva-Pereira,Maria Luiza; Jardim,Laura Bannach; Matte,Ursula; Riegel,Mariluce; Cardoso-dos-Santos,Augusto César; Rodrigues,Graziella; Oliveira,Marcelo Zagonel de; Tagliani-Ribeiro,Alice; Heck,Selia; Dresch,Vanusa; Schuler-Faccini,Lavínia; Kubaski,Francyne.	
Data: 	2019-01-01	
Ano: 	2019	
Palavras-chave: 	Population Medical Genetics; Genetic clusters; Founder effect; Population isolates.	
Resumo: 	Abstract Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients. The study of these disorders is extremely helpful for the elucidation of physiological processes related with complex disorders. Isolated populations are instrumental for the study of genetic disorders, considering their homogeneity and high proportion of affected patients in a small geographic area. These favorable conditions lead to the creation of a new discipline, known as “population medical genetics”, which integrates medical genetics, population genetics, epidemiological genetics and community genetics. In order to develop practical activities in this new discipline, the National Institute of Population Medical Genetics (INaGeMP) was created in 2008 in Brazil. INaGeMP has developed several tools and funded numerous research activities. In this review, we highlight three successful projects developed in the first 10 years of INaGeMP activities (2008-2018): a newborn screening pilot study for MPS VI in Northeast Brazil, the study of Machado-Joseph disease in Brazilian families with Azorian ancestry, and the high twinning rate in a small town in southern Brazil. The results of these projects in terms of scientific output and contributions to the affected communities highlight the success and importance of INaGeMP.	
Tipo: 	Info:eu-repo/semantics/article	
Idioma: 	Inglês	
Identificador: 	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200312	
Editor: 	Sociedade Brasileira de Genética	
Relação: 	10.1590/1678-4685-gmb-2018-0096	
Formato: 	text/html	
Fonte: 	Genetics and Molecular Biology  v.42 n.1 suppl.1 2019	
Fonte: 	info:eu-repo/semantics/openAccess