Posts by: Alejandra Viviescas, PhD.

Alejandra Viviescas, PhD.

Alejandra has a PhD in Genetics from São Paulo State University (UNESP) and is currently working as a scientific writer, editor, and translator. As a writer for BioNews, she is fulfilling her passion for making scientific data easily available and understandable to the general public. Aside from her work with BioNews, she also works as a language editor for non-English speaking authors and is an author of science books for kids.

December 12, 2019December 12, 2019

Measuring Lyso-Gb1 Levels Could Provide Prenatal Diagnosis of Gaucher Disease, Study Suggests

News

A test that measures levels of glucosylsphingosine (or lyso-Gb1) in the blood may help diagnose Gaucher disease (GD) and distinguish between disease types, a study has found. The test proved ... Read more

October 10, 2019

Gaucher Disease Might Be Associated with Rare Types of Blood Cancer, Case Report Suggests

News

Gaucher disease can predispose patients to rare types of blood cancer, and doctors should be vigilant for the development of these malignancies, a case report suggests. The study, “A case ... Read more

September 16, 2019October 24, 2019

FDA Asked to Allow Higher Dose of PROO1 Gene Therapy in Gaucher Type 2 Clinical Trial

News

Prevail Therapeutics is asking the U.S. Food and Drug Administration (FDA) to approved a request to open clinical trials, at higher doses than initially planned, into its investigational gene therapy PR001 ... Read more

August 19, 2019

New GBA Mutation May Be Linked to Perinatal Lethal Gaucher Disease, Case Report Suggests

News

A new mutation, H413P, that may be associated with severe symptoms was discovered in a Chinese baby with perinatal lethal Gaucher disease, a case report suggests. The report, “A Neonatal ... Read more

June 6, 2019

Case Report of Sisters with Gaucher Underscores Importance of Early Diagnosis

News

Gaucher disease may have very distinct manifestations, even among genetically similar people with the same mutation in the GBA gene. Early diagnosis and treatment are key to avoid severe consequences ... Read more

May 6, 2019

Gaucher Disease Leads to Eye Manifestations Needing Early Diagnosis, Treatment, Review Suggests

News

Manifestations in the eye are rare symptoms of Gaucher disease that can affect patients with all disease subtypes, a review study suggests. These symptoms should be diagnosed and treated early to avoid ... Read more

April 18, 2019

Better Measures Needed in Morocco to Avoid Underdiagnosis of Gaucher Disease, Case Report Suggests

News

Morocco needs better facilities specialized in the screening, diagnosis, and management of Gaucher disease to prevent underdiagnosis of the disorder, a report of two cases suggests. Additionally, clinicians should consider other disease ... Read more

January 29, 2019

Case Report of Multi-Generational GD Highlights Importance of Cascade Screening

News

Cascade screening — a systematic analysis performed in a family to identify the risk of any member developing a genetic disease — should be performed in families with a genetic ... Read more

January 17, 2019January 18, 2019

Key to Early Diagnosis May Lie in Response to Chronic Anemia Treatment, Case Report Suggests

News

Chronic anemia that does not respond to iron supplements might be a warning sign of Gaucher disease (GD) in children and could help with early diagnosis, a case report suggests. The ... Read more