O Grupo de Investigação Cardiovascular (GIC) do Departamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis (DPS) do Instituto Nacional de Saúde Doutor Ricardo Jorge (INSA) participou no 9th EAS Paediatric Familial Hypercholesterolaemia Symposium e no 94th European Atherosclerosis Society Congress (EAS 2026), realizados entre 23 e 27 de maio, em Atenas, Grécia.

A participação do grupo refletiu a atividade científica desenvolvida pelo INSA na área das dislipidemias familiares, com trabalhos focados no diagnóstico genético e funcional da hipercolesterolemia familiar, na caracterização de variantes genéticas e na avaliação de novas abordagens terapêuticas.

No simpósio dedicado à hipercolesterolemia familiar pediátrica, Joana Chora apresentou a comunicação “Managing Children with HeFH when they have a VUS. What is a VUS?”, abordando os desafios da interpretação de variantes genéticas de significado incerto em idade pediátrica.

No congresso da European Atherosclerosis Society, os investigadores do DPS apresentaram quatro trabalhos científicos, três dos quais selecionados para o formato Science at a Glance (SaaG), que combina apresentação oral e discussão científica interativa:

• Ana Catarina Alves – Position matters: functional effects of LDLR nonsense variants (SaaG)

• Ana M. Medeiros – Impact of 3'-UTR miRNA-related SNPs in LDLR and PCSK9 genes as modifiers of the hypercholesterolemic phenotype in Familial Hypercholesterolemia (SaaG)

• Rafael Graça – Variant-Specific Drug Responses in FH: an Ex Vivo Pilot Study (SaaG)

• Maria Ferreira – From Screening to Precision Care: Validating Borderline LDLR Variants Through Flow Cytometry

A participação do grupo incluiu ainda o envolvimento em redes internacionais dedicadas à hipercolesterolemia familiar. Mafalda Bourbon participou na reunião da EAS Familial Hypercholesterolaemia Studies Collaboration, enquanto Ana Medeiros e Joana Chora integraram a reunião da Homozygous Familial Hypercholesterolaemia International Clinical Collaboration.

A participação ativa do GIC nestas iniciativas científicas internacionais reforça a visibilidade internacional da investigação desenvolvida no INSA e o seu contributo para o avanço do conhecimento na área das dislipidemias familiares e da prevenção cardiovascular.

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The Cardiovascular Research Group (GIC) of the Department of Health Promotion and Prevention of Noncommunicable Diseases (DPS) at the National Institute of Health Doutor Ricardo Jorge (INSA) participated in the 9th EAS Paediatric Familial Hypercholesterolaemia Symposium and the 94th European Atherosclerosis Society Congress (EAS 2026), held in Athens, Greece, from 23 to 27 May.

The group's participation reflected the scientific research carried out at INSA in the field of familial dyslipidaemias, with studies focusing on the genetic and functional diagnosis of familial hypercholesterolaemia, the characterisation of genetic variants, and the evaluation of novel therapeutic approaches.

At the symposium dedicated to paediatric familial hypercholesterolaemia, Joana Chora presented the talk "Managing Children with HeFH when they have a VUS. What is a VUS?", addressing the challenges of interpreting genetic variants of uncertain significance in paediatric patients.

At the European Atherosclerosis Society Congress, DPS researchers presented four scientific studies, three of which were selected for the Science at a Glance (SaaG) format, which combines an oral presentation with interactive scientific discussion:

The group's participation also included involvement in international collaborative networks dedicated to familial hypercholesterolaemia. Mafalda Bourbon took part in the EAS Familial Hypercholesterolaemia Studies Collaboration meeting, while Ana Medeiros and Joana Chora participated in the Homozygous Familial Hypercholesterolaemia International Clinical Collaboration meeting.

The active participation of the GIC in these international scientific initiatives reinforces the international visibility of the research conducted at INSA and highlights its contribution to advancing knowledge in the fields of familial dyslipidaemias and cardiovascular disease prevention.