Ana is a molecular biologist enthusiastic about innovation and communication. In her role as a science writer she wishes to bring the advances in medical science and technology closer to the public, particularly to those most in need of them. Ana holds a PhD in Biomedical Sciences from the University of Lisbon, Portugal, where she focused her research on molecular biology, epigenetics and infectious diseases.
From genetically engineered rice cells, scientists have produced human beta-glucocerebrosidase (GCase) — the enzyme deficient in Gaucher disease — with some of the therapeutic properties of the treatment Cerezyme, a study reports. This ... Read more
The case of a young women with Gaucher disease type 3, which affected her small bowel, calls attention to the possibility, although rare, that certain gastrointestinal (GI) symptoms can be a sign ... Read more
A case report on three family members with Gaucher disease (GD) underlines the importance of early diagnosis and treatment with enzyme replacement therapy (ERT) to prevent disease progression and improve quality of ... Read more
A computational analysis added insight on the molecular effects of mutations linking Gaucher disease (GD) and susceptibility to Parkinson’s disease (PD). The study identifies one mutation that may serve as ... Read more
Simple algorithms and rapid tools such as dried blood spot assays can help speed diagnosis, avoid unnecessary biopsies, and enable more effective management of Gaucher disease (GD) type 1, according ... Read more
A woman with type 1 Gaucher disease had several potentially light-threatening blood vessel bulges called aneurysms in her brain, according to a case study. It prompted researchers to wonder about a ... Read more
Keeping tabs on Gaucher patients’ blood glucosylsphingosine (GlcSph) levels could be an alternate way to keep track of how well treatments are working, a Polish study suggests. The research, “Plasma ... Read more