Genómica Funcional (FunGen)
Functional Genomics
Com o aumento do diagnóstico genético por sequenciação de próxima geração (NGS) o número de variantes identificadas aumentou exponencialmente. A maioria das variantes encontradas em genes associados a uma doença genética são classificadas como variantes de significado desconhecido (VUS) devido à falta de evidências para classificá-las de outra forma, portanto, essas variantes não são acionáveis. Os estudos funcionais permitem aumentar a evidência para a correta classificação das variantes, melhorando assim o diagnóstico, permitindo um tratamento mais personalizado, contribuindo para um melhor prognóstico dos indivíduos com dislipidemia. A dislipidemia representa um grupo de distúrbios do metabolismo lipídico, caracterizados por aumento ou diminuição das partículas lipídicas, geralmente associadas a triglicerídeos, colesterol LDL (LDL-c) e/ou colesterol HDL (HDL-c). O objetivo deste projeto é desenvolver métodos para caracterizar funcionalmente variantes encontradas em genes associados à Hipercolesterolemia Familiar e outras dislipidemias estudadas no nosso grupo.
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With the increase in genetic diagnosis by next generation sequencing (NGS) the number of variants identified has increased exponentially. The majority of the variants found in genes associated to a genetic disease are classified as variants of unknown significance (VUS) due to lack of evidence to classify them otherwise, so these variants are not actionable. Functional studies allow to increase the evidence for the correct classification of variants, thus improving the diagnosis, allowing for a more personalized treatment, contributing for better prognosis for individuals with dyslipidemia. Dyslipidemia represents a group of disorders of lipid metabolism, characterized by either an increase or decrease in lipid particles, usually associated with triglycerides, LDL cholesterol (LDL-c) and/or HDL cholesterol (HDL-c). The objective of this project is to develop methods to functionally characterize variants found in genes associated with Familial Hypercholesterolemia and other dyslipidemias studied in our group.
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With the increase in genetic diagnosis by next generation sequencing (NGS) the number of variants identified has increased exponentially. The majority of the variants found in genes associated to a genetic disease are classified as variants of unknown significance (VUS) due to lack of evidence to classify them otherwise, so these variants are not actionable. Functional studies allow to increase the evidence for the correct classification of variants, thus improving the diagnosis, allowing for a more personalized treatment, contributing for better prognosis for individuals with dyslipidemia. Dyslipidemia represents a group of disorders of lipid metabolism, characterized by either an increase or decrease in lipid particles, usually associated with triglycerides, LDL cholesterol (LDL-c) and/or HDL cholesterol (HDL-c). The objective of this project is to develop methods to functionally characterize variants found in genes associated with Familial Hypercholesterolemia and other dyslipidemias studied in our group.
