Joana holds a BSc in Biology, a MSc in Evolutionary and Developmental Biology and a PhD in Biomedical Sciences from Universidade de Lisboa, Portugal. Her work has been focused on the impact of non-canonical Wnt signaling in the collective behavior of endothelial cells — cells that made up the lining of blood vessels — found in the umbilical cord of newborns.
High-risk screenings for Fabry disease among individuals with chronic kidney disease (CKD) should be based on biomarkers other than globotriaosylceramide (Gb3) to lower the frequency of false positives, a ... Read more
Scientists have found evidence that a GLA gene variant of unknown pathogenicity — meaning its ability to cause disease was still unknown — can trigger kidney disorders associated with Fabry ... Read more
AMT-190, uniQure‘s investigational gene therapy for the treatment of Fabry disease, shows promise as a one-time therapy option that may someday replace enzyme replacement therapy (ERT) in this patient ... Read more
Amicus Therapeutics‘ Galafold (migalastat) provides clinical benefit to patients carrying amenable Fabry disease mutations, regardless of disease severity, a Phase 3 trial shows. The findings of the study, “Efficacy of ... Read more
Galafold (migalastat) increases the activity of alpha-galactosidase A, stabilizes serum biomarkers, and improves heart function in patients with amenable Fabry disease mutations, according to clinical results. The study, “Oral ... Read more
Scientists discovered a new mutation in the GLA gene that leads to the production of a shorter protein in a Chinese patient with Fabry disease, correlating with kidney symptoms associated with ... Read more
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