Population medical genetics: translating science to the community
| Autor: | Selia Heck, Sandra Leistner-Segal, Antônio Purificação, Graziella Rodrigues, Tatiana Amorim, Laura Bannach Jardim, Roberto Giugliani, Alice Tagliani-Ribeiro, Lavinia Schuler-Faccini, Angelina Xavier Acosta, Francyne Kubaski, Maira Graeff Burin, Augusto César Cardoso-dos-Santos, Ana Carolina Brusius-Facchin, Ursula Matte, Aline Nemetz Bochernitsan, Marcelo Zagonel de Oliveira, Fernanda Bender, Rowena Rubim Silva do Couto, Maria Luiza Saraiva-Pereira, Mariluce Riegel, Vanusa Dresch |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0106 biological sciences
0301 basic medicine Gerontology medicine.medical_specialty Small town lcsh:QH426-470 Population Population Medical Genetics Estatística e dados numéricos Population genetics Métodos Doenças genéticas inatas Disease Mapeamento cromossomico Biology 01 natural sciences Terapêutica 03 medical and health sciences genetic clusters Epidemiology Genetics medicine Epidemiologia education Molecular Biology education.field_of_study Diagnóstico population isolates Articles Extremely Helpful Genética Fisiopatologia Genética médica lcsh:Genetics 030104 developmental biology founder effect Medical genetics 010606 plant biology & botany Founder effect |
| Zdroj: | Genetics and Molecular Biology, Iss 0 (2019) Genetics and Molecular Biology v.42 n.1 suppl.1 2019 Genetics and Molecular Biology Sociedade Brasileira de Genética (SBG) instacron:SBG Repositório Institucional da UFRGS Universidade Federal do Rio Grande do Sul (UFRGS) instacron:UFRGS Genetics and Molecular Biology, Volume: 42, Issue: 1 Supplement 1, Pages: 312-320, Published: 11 APR 2019 Genetics and Molecular Biology, Issue: ahead, Published: 11 APR 2019 |
| ISSN: | 1678-4685 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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