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BRCA1 VUS
Lourenço, Rita Adubeiro; Lança, Miguel; Monteiro Gil, Octávia; Cardoso, Joana; Lourenço, Teresa; Pereira-Leal, José; Rodrigues, António SebastiãoGenetic testing for susceptibility genes through next‑generation sequencing (NGS) has become a widely used technique. Using this, a number of genetic variants have been identified, several of which are variants of unknown significance (VUS). These VUS can either be pathogenic or benign. However, since their biological effect remains unclear, functional assays are required to classify their functional nature. As...
Rubella in Sub-Saharan Africa and sensorineural hearing loss
Caroça, Cristina; Vicente, Vera; Campelo, Paula; Chasqueira, Maria-Jesus; Caria, Helena; Nunes Silva, Susana; Paixão, Paulo; Paço, JoãoBackground: Rubella infection can affect several organs and cause birth defects that are responsible for congenital rubella syndrome (CRS). Congenital hearing loss is the most common symptom of this syndrome, occurring in approximately 60% of CRS cases. Worldwide, over 100 000 babies are born with CRS every year. There is no specific treatment for rubella, but the disease is preventable by vaccination. Since 19...