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.

March 19, 2020March 19, 2020

Younger Children With GD1 More Susceptible to Poorer Health-related Quality of Life, Study Suggests

News

Children with type 1 Gaucher disease are more likely to experience social withdrawal, anxiety, and depression with poorer health-related quality of life than their peers without the disorder, researchers suggest. ... Read more

March 16, 2020March 16, 2020

Rare GD1 Genetic Profile Associated With Mild Symptoms, Study Finds

News

Children and adults with a rare genetic profile causing type 1 Gaucher disease (GD1) may exhibit mild symptoms and not require treatment, research suggests. The study, “The N370S/R496H genotype in ... Read more

February 10, 2020February 10, 2020

Thermo Fisher Develops Test to Screen Genes Linked to Gaucher, Other Hereditary Disorders

News

Thermo Fisher Scientific said it has developed a new test that will allow reproductive health investigators to screen 420 genes for markers of several disorders, including Gaucher disease. This new ... Read more

January 6, 2020January 6, 2020

FDA Removes Clinical Hold on Phase 1/2 Trial of PR001 Gene Therapy for Type 2 Gaucher Disease

News

The U.S. Food and Drug Administration (FDA) has lifted the clinical hold on a Phase 1/2 trial designed to test the gene therapy candidate PR001 in patients with type 2 ... Read more

January 2, 2020January 2, 2020

Ambroxol Reverses Bone Damage, Decreases Abnormal Organ Volume in GD Type 1, Case Study Shows

News

Treatment with ambroxol — a medication used to treat respiratory conditions associated with excessive mucus — reversed bone damage and decreased the excessive liver and spleen volume of a 5-year-old ... Read more

July 1, 2019

Patients on Enzyme Replacement Therapy May Be Prone to Psychiatric Disorders, Study Suggests

News

Gaucher disease patients on enzyme replacement therapy may be prone to psychiatric disorders, according to an Egyptian team of researchers. Their study, “Psychiatric manifestations in Egyptian Gaucher patients on enzyme ... Read more

April 15, 2019

Case Report Raises Awareness on Multiple Myeloma Risk in Gaucher Disease Patients

News

A case report describing a man who was diagnosed with multiple myeloma and found to be a Gaucher disease carrier highlights the increased risk for cancer, especially multiple myeloma, associated ... Read more

November 6, 2018

Gaucher Type 1 Patient Diagnosed with Rare Corticobasal Syndrome, Study Reports

News

A patient with type 1 Gaucher disease (GD1) was diagnosed with corticobasal syndrome, a rare condition that causes some of the same symptoms seen in Parkinson’s disease, researchers report. The study, “Corticobasal ... Read more

October 30, 2018

Case Study Reports Abnormal Brain Changes in 3 Children with Gaucher Disease

News

Three pediatric cases of Gaucher disease (GD) with unprecedented brain magnetic resonance imaging (MRI) changes mainly affecting the thalamus and/or dentate nucleus were recently described in a case report. The ... Read more

October 23, 2018

Children with Type 1 Gaucher Disease Show Changes in Motor and Sensory Brain Networks, Study Finds

News

Motor and sensory-related brain networks do not work efficiently in children with type 1 Gaucher disease (GD), but this disrupted performance appears to remain stable over time, researchers report. Their ... Read more