José is a science news writer with a PhD in Neuroscience from Universidade of Porto, in Portugal. He has also studied Biochemistry at Universidade do Porto and was a postdoctoral associate at Weill Cornell Medicine, in New York, and at The University of Western Ontario in London, Ontario, Canada. His work has ranged from the association of central cardiovascular and pain control to the neurobiological basis of hypertension, and the molecular pathways driving Alzheimer’s disease.
A 15-month-old boy has become the youngest reported patient with Gaucher disease to develop multiple benign accumulations of Gaucher cells — called a Gaucheroma — after starting on enzyme ... Read more
A €1.4 million grant from the Eurostars-2 program, with funding from others, will support Gain Therapeutics and its partners in developing treatment candidates for Gaucher disease, Parkinson’s, and GM1 gangliosidosis. ... Read more
Plasma levels of a molecule called galactosylsphingosine are low enough that they do not interfere with the detection of the Gaucher disease biomarker glucosylsphingosine, or Lyso GL-1, a study ... Read more
A new microscopy technique enables visualization of beta-glucocerebrosidase (GBA) given in enzyme replacement therapy (ERT) to people with Gaucher disease. This could help improve treatment efficiency in this patient ... Read more
High activity of an enzyme called chitotriosidase (ChT) before treatment does not correlate with clinical or biochemical parameters in Gaucher disease, according to new research in Brazilian patients. The ... Read more
Two approved treatments for Gaucher disease type 1 patients — Cerdelga (eliglustat) and Cerezyme (imiglucerase) — are equally effective as treatments, working increase hemoglobin and platelets levels, and reduce spleen and ... Read more