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.
Highlights
The interest on rare genetic disorders has been increasing exponentially due to several factors: new genetic disorders are still being described; several individuals and families are affected by rare disorders requiring attention and public policies from governments; and genetic disorders are a good model for elucidation of physiological processes, providing knowledge applicable to nongenetic disorders.Population medical genetics (PMG) is the area of medical genetics that aims at the study and medical care of the population, and not of the individual or the family, as is the normal practice in clinical or medical genetics (Castilla, 2005)
After 10 years of activities (2008-2018), INaGeMP became an example of a successful initiative, supported with Brazilian public funding, that focuses on the study of clusters of genetic diseases and translates the results to practical health related actions in the affected communities, together with important contributions to science and creation of several tools (Costa-Motta et al, 2011; Saute and Jardim, 2015; Donis et al, 2016; da Silva Carvalho et al, 2016)
INaGeMP has conducted projects related to several aspects of rare conditions, such as: MPS VI, genodermatosis, familial deafness, oral cleft, neural tube defects, thalidomide embryophathy, genetic susceptibility to Malaria and Leishmania, Machado-Joseph disease, genetic mutations associated with familial cancers
Summary
The interest on rare genetic disorders has been increasing exponentially due to several factors: new genetic disorders are still being described; several individuals and families are affected by rare disorders requiring attention and public policies from governments; and genetic disorders are a good model for elucidation of physiological processes, providing knowledge applicable to nongenetic disorders.Population medical genetics (PMG) is the area of medical genetics that aims at the study and medical care of the population, and not of the individual or the family, as is the normal practice in clinical or medical genetics (Castilla, 2005). Isolated populations are instrumental for the study of genetic disorders, considering their homogeneity and high proportion of affected patients in a small geographic area.
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