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.
Centogene has expanded its partnership with PTC Therapeutics to make its genetic and biomarker testing services — to help diagnose aromatic L-amino acid decarboxylase (AADC) deficiency — available free ... Read more
Scientists discovered four potential protein biomarkers — apolipoprotein D, apolipoprotein H, oligodendrocyte myelin glycoprotein, and collagen6A3 — that may be useful for assessing the severity of certain disorders, including ... Read more
Gene therapy with small RNA molecules may be a promising therapeutic strategy to correct RNA processing errors in aromatic l-amino acid decarboxylase (AADC) deficiency, a study says. The findings of the ... Read more
Since its founding in 2013, the International Working Group on Neurotransmitter related Disorders (iNTD) has been building a network and patient registry aimed at promoting knowledge and awareness among clinicians ... Read more
Gene therapy using a special type of virus vector to deliver the functional DDC gene is well-tolerated and might improve motor development in children with aromatic l-amino acid decarboxylase (AADC) deficiency in ... Read more
Only 18 months after its initial licensing, Agilis Biotherapeutics‘ gene therapy for aromatic l-amino acid decarboxylase (AADC) deficiency has been deemed ready for submission to the U.S. Food and Drug Administration (FDA). Given its ... Read more