National Institute of Health Dr Ricardo Jorge is the Host Institution of PerMedFH project.
The National Institute of Health (INSA) is the state laboratory of the Health Ministry and as such has a mission to contribute to health gains in society. INSA has also been nominated by the Health Minister to lead the Personalized Medicine strategy in Portugal and has a direct connection with the Directorate General Health and will push forward the implementation of personalized medicine for FH. INSA team has a great expertise in genetics, being was one of the first to implement next generation sequencing panels that allow the study of the 3 genes causing FH; variant biological interpretation, with Dr Bourbon being one of the chairs of the ClinGen FH variant curation expert panel, an international consortium that developed guidelines for FH variant classification; functional genomics, with XXX years of functional studies expertise; and also bioinformatics/biostatistics and databases.
The National Institute of Health (INSA) is the state laboratory of the Health Ministry and as such has a mission to contribute to health gains in society. INSA has also been nominated by the Health Minister to lead the Personalized Medicine strategy in Portugal and has a direct connection with the Directorate General Health and will push forward the implementation of personalized medicine for FH. INSA team has a great expertise in genetics, being was one of the first to implement next generation sequencing panels that allow the study of the 3 genes causing FH; variant biological interpretation, with Dr Bourbon being one of the chairs of the ClinGen FH variant curation expert panel, an international consortium that developed guidelines for FH variant classification; functional genomics, with XXX years of functional studies expertise; and also bioinformatics/biostatistics and databases.