Posts by: Catarina Silva, MSc

Catarina Silva, MSc

With over three years of experience in the medical communications business, Catarina holds a BSc. in Biomedical Sciences and a MSc. in Neurosciences. Apart from writing, she has been involved in patient-oriented translational and clinical research.

October 18, 2018

‘Lantern Project’ Shines Light on Genetic Testing for Rare Disease Diagnosis

News

Sanofi Genzyme has partnered with PerkinElmer Genomics to launch a free genetic testing program called The Lantern Project. The initiative is directed at patients in the United States who have, ... Read more

September 20, 2018

Oral Medication Linked to Better Quality of Life Over Infusion Therapy in Gaucher Disease, Study Suggests

News

When it comes to treating Gaucher disease, oral medication is associated with a better quality of life, compared with infusion therapy, an interview-based study suggests. Led by researchers at the ... Read more

May 15, 2018

Gaucher Type 1 Children Have White Matter Changes in Brain Before Symptoms Appear, Study Shows

News

Children with type 1 Gaucher disease have deterioration of white matter in their brains before they show any clinical symptoms, researchers at China’s Capital Medical University found. According to the study, ... Read more

April 24, 2018June 8, 2018

Early Diagnosis of Gaucher in At-risk Children Possible Using Dried Blood Spots, Study Reports

News

Looking at the activity of the Gaucher-associated enzyme — beta glucocerebrosidase (GBA) — using dried blood spot samples allows for an early diagnosis of likely Gaucher disease in children with ... Read more