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.
A laboratory test using blood samples could help identify Gaucher disease (GD) patients likely to respond to experimental chaperone therapies, a study reports. The assay is based on macrophages, white ... Read more
The U.S. Food and Drug Administration (FDA) granted orphan drug designation to AVR-RD-02, a gene therapy candidate for the treatment of Gaucher disease. AVR‑RD‑02, being developed by Avrobio, recently advanced ... Read more
Avrobio presented updated preclinical data for AVR-RD-02, its gene therapy candidate for Gaucher disease, and announced its plans to begin the first clinical studies in patients with type 1 ... Read more
Gene activity profiles of cells from Gaucher disease patients confirm the idea that inflammation plays an important role in the disease’s development, a study reports. Researchers argue that the ... Read more
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. ... 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 ... Read more
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