Population medical genetics: translating science to the community
作者： Roberto Giugliani , Fernanda Bender , Rowena Couto , Aline Bochernitsan , Ana Carolina Brusius-Facchin
DOI: 10.1590/1678-4685-GMB-2018-0096
关键词:
摘要: Rare genetic disorders are currently in the spotlight due to elevated number of different conditions and significant total affected patients. The study these is extremely helpful for elucidation physiological processes related with complex disorders. Isolated populations instrumental disorders, considering their homogeneity high proportion patients a small geographic area. These favorable lead creation new discipline, known as "population medical genetics", which integrates genetics, population epidemiological genetics community genetics. In order develop practical activities this National Institute Population Medical Genetics (INaGeMP) was created 2008 Brazil. INaGeMP has developed several tools funded numerous research activities. review, we highlight three successful projects first 10 years (2008-2018): newborn screening pilot MPS VI Northeast Brazil, Machado-Joseph disease Brazilian families Azorian ancestry, twinning rate town southern results terms scientific output contributions communities success importance INaGeMP.
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