MELHOR POSTER

Ana Isabel Mendonça
Instituição: Biochemical Genetics Laboratory, Laboratory Genetics Service, Centro de Genética Médica Jacinto Magalhães, Porto, Portugal
Comunicação: Enhancing diagnostic algorithms for GM2 Gangliosidoses through biochemical analysis

Maria Eduarda Moutinho
Instituição: Inherited Metabolic Diseases in Humans and Animals, CECA-ICETA, Porto, Portugal
Comunicação: CRISPR/Cas9 and zebrafish as tools to study rare genetic diseases: a new animal model for Mucolipidosis II

Ana Sandiares
Instituição: Human Genetics Department, Research and Development Unit,, National Institute of Health Ricardo Jorge, Porto, Portugal
Comunicação: Investigating cellular targets, potential biomarkers, and disease-causing variants to understand the complexity of Niemann-Pick Type C Disorde

Menção Honrosa

Catarina Andrade
Instituição: Chemistry, Universidade de Aveiro, Aveiro, Portugal
Comunicação:Examining how Enzyme Replacement Therapy affects the invariant Natural Killer T cells in individuals with Acid Sphingomyelinase Disease