Population medical genetics : translating science to the community

• Autor(a) principal: Giugliani, Roberto
• Data de Publicação: 2019
• Outros Autores: Bender, Fernanda, Couto, Rowena Rubim Silva do, Bochernitsan, Aline Nemetz, Facchin, Ana Carolina Brusius, Burin, Maira Graeff, Amorim, Tatiana, Acosta, Angelina Xavier, Purificação, Antônio Conceição da, Leistner-Segal, Sandra, Pereira, Maria Luiza Saraiva, Jardim, Laura Bannach, Matte, Ursula da Silveira, Riegel, Mariluce, Santos, Augusto César Cardoso dos, Rodrigues, Graziella Ramos, Oliveira, Marcelo Zagonel de, Ribeiro, Alice Tagliani, Heck, Selia Maria, Dresch, Vanusa, Faccini, Lavinia Schuler, Kubaski, Francyne
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UFRGS
• Texto Completo: http://hdl.handle.net/10183/199807
• topic: Genética; Genética médica; Estatística e dados numéricos; Métodos; Mapeamento cromossomico; Doenças genéticas inatas; Fisiopatologia; Epidemiologia; Diagnóstico; Terapêutica; Population Medical Genetics; genetic clusters; founder effect; population isolates

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.