INSA
Instituto Nacional de Saúde Ricardo Jorge
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This webpage is still under construction and as such, content may change.
Thank you for your consideration. ________________________________________________________________________________
This webpage is still under construction and as such, content may change.
Thank you for your consideration. ________________________________________________________________________________
National Institute of Health Dr Ricardo Jorge is the Host Institution of PerMed FH 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 one of the first to implement next generation sequencing panels that allow the study of the 3 genes causing FH;
- variant pathogenicity 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 over 10 years of functional studies expertise; and also
- bioinformatics/biostatistics and databases.
- genetics, being one of the first to implement next generation sequencing panels that allow the study of the 3 genes causing FH;
- variant pathogenicity 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 over 10 years of functional studies expertise; and also
- bioinformatics/biostatistics and databases.