Posts by: Marta Figueiredo

Marta Figueiredo

Marta Figueiredo holds a BSc in Biology and a MSc in Evolutionary and Developmental Biology from the University of Lisbon, Portugal. She is currently finishing her PhD in Biomedical Sciences at the University of Lisbon, where she focused her research on the role of several signalling pathways in thymus and parathyroid glands embryonic development.

September 6, 2018

Multiparametric MRI May Help Identify, Monitor Bone Lesions in Gaucher Patients, Study Suggests

News

Using magnetic resonance imaging (MRI) to assess water- and fat-associated tissue changes may be used to identify and monitor bone damage in young people with Gaucher disease, researchers from Egypt ... Read more

August 2, 2018August 3, 2018

Prenatal Gene Therapy May Prevent Brain Damage in Gaucher Type 2, Mouse Study Suggests

News

Prenatal delivery of a gene therapy restored the production of glucocerebrosidase — the deficient enzyme in Gaucher disease — prevented nerve cell death, and prolonged survival in a mouse model ... Read more

July 31, 2018

Genetically Modified Plant Roots May Be Better for Producing Key Enzyme in Gaucher Therapy, Study Shows

News

The large-scale production of glucocerebrosidase — an enzyme that is lacking in Gaucher disease — by genetically modifying plant roots is seen as a viable strategy for enzyme replacement therapy ... Read more

June 26, 2018

Improved Quantification Method May Help Better Assess Gaucher Biomarker, Researchers Say

News

Using a mouse model, researchers have developed an improved method to accurately quantify the presence of glucosylsphingosine (Lyso-Gb1) — a diagnostic and treatment-response biomarker of Gaucher disease. The study, “A ... Read more

May 23, 2018

Rare Case of Gaucher Disease and Chronic Myeloid Leukemia Reported in Spain

News

A rare case of a patient with Gaucher disease type 1 who developed chronic myeloid leukemia — a blood cancer — and was treated simultaneously for both diseases was reported ... Read more

May 10, 2018June 20, 2018

Lyso-Gb1 Also Reliable Response-to-Therapy Biomarker for Gaucher Patients, Study Finds

News

Glucosylsphingosine (Lyso-Gb1) — a known diagnostic biomarker of Gaucher disease — is also the most reliable response biomarker to quantify how a patient is doing while under enzyme replacement therapy ... Read more

May 3, 2018

Small Molecule Increases Glucocerebrosidase Activity, May Be Gaucher Therapy

News

A potent small molecule called JZ-4109 increases the activity of glucocerebrosidase — the enzyme that is deficient in Gaucher disease — making it a potential new therapy for this disease, according ... Read more

April 26, 2018April 26, 2018

3 New Mutations Likely to Cause Gaucher Type 2 Identified in Turkish Study

News

Three possible new mutations in patients with Gaucher disease type 2 were identified by researchers in Turkey, who also found a higher-than-usual incidence of this rare subtype in the group ... Read more

February 1, 2018February 1, 2018

Some GD Type 1 Patients May Benefit from ERT-SRT Therapy Combo, Case Report Shows

News

The combination of enzyme replacement therapy (ERT) and Zavesca (miglustat) substrate reduction therapy (SRT) for a limited period improved disease symptoms in two women with Gaucher disease type 1 (GD1), ... Read more