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.
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