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.
Brineura (cerliponase alfa), the first and only approved treatment for CLN2 disease, or late infantile Batten disease, is effective in delaying motor and language decline in children with the ... Read more
Scientists have identified a series of proteins that may be useful biomarkers of disease progression for different types of Batten disease. The study, “Analysis of brain and cerebrospinal fluid ... Read more
Treatment with a type of complex fat molecule called galactosylceramide increased lifespan, improved behavioral outcomes and eased neuronal loss in a mouse model of juvenile Batten disease, a study ... Read more
A one-time treatment with an investigational gene therapy prolongs the lifespan in a mouse model of CLN6 disease, and ameliorates motor, learning, and memory impairments, a study shows. The ... Read more
Brain-directed gene therapy is a feasible therapeutic strategy to prevent neurodegeneration associated with CLN6 disease, a mouse study says. The findings of the study, “Neonatal brain-directed gene therapy rescues ... Read more
Fycompa (perampanel) may be considered as an add-on therapy to control myoclonus (quick, involuntary muscle jerks) in patients with late infantile Batten disease, according to a case report study. ... Read more