| Registro completo |
| 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
|
| Direitos: |
info:eu-repo/semantics/openAccess
|
|
