Posts by: Patricia Inacio PhD

Patricia Inacio PhD

Patricia holds her Ph.D. in Cell Biology from University Nova de Lisboa, and has served as an author on several research projects and fellowships, as well as major grant applications for European Agencies. She also served as a PhD student research assistant in the Laboratory of Doctor David A. Fidock, Department of Microbiology & Immunology, Columbia University, New York.

February 22, 2021August 24, 2022

Blood Test Plus Algorithm Might Help to More Easily Spot Gaucher Type 1

News

An enlarged spleen or low platelets counts — or both — in a person with difficult-to-diagnose complaints may be a sign of type 1 Gaucher disease (GD1), a study suggests. ... Read more

February 15, 2021February 15, 2021

AVR-RD-02 Gene Therapy Still Showing Efficacy in 1st Treated Patient in Trial

News

Updated, six-month data from a Phase 1/2 trial show a continued drop in the levels of two disease biomarkers in the first patient given a single infusion of AVR-RD-02, Avrobio’s ... Read more

March 9, 2020March 9, 2020

Pediatric Rare Disease Therapies Increase, But Most Repurposed, Study Finds

News

The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking ... Read more

February 17, 2020February 17, 2020

Fat ‘Floaters’ Impairing Vision in GD3 Patient Highlight Need for Monitoring, New Therapies, Case Study Reports

News

A young man with Gaucher disease type 3 (GD3) developed fat deposits in the eye, called floaters, that impaired his vision despite long-term treatment with enzyme replacement therapy (ERT) and ... Read more

January 30, 2020January 30, 2020

Case Report Identifies New GBA Gene Mutation in Woman with Gaucher Type 1

News

A newly identified mutation in a region of the GBA gene that lacks information necessary to make the resulting beta-glucocerebrosidase (GCase) protein was found in a woman with Gaucher disease (GD) type ... Read more

January 27, 2020January 27, 2020

Targeted Gene Therapy Prevents Neurological Symptoms, Extends Survival in Gaucher Mouse Model, Study Shows

News

Gene therapy targeting nerve cells restored the production of beta-glucocerebrosidase (GCase) — the defective enzyme in Gaucher disease — in a mouse model of the disorder, preventing neurodegeneration and prolonging ... Read more

January 23, 2020January 23, 2020

Careful Monitoring for Lung Involvement Urged for Gaucher Children, Even Absent Symptoms, Study Reports

News

Lung manifestations are frequent among children with Gaucher disease, with recurrent chest wheezing, greater disease severity, and low platelet counts among the risk factors for developing such complications, an Egyptian ... Read more

January 20, 2020January 20, 2020

‘Floaters’ That Impair Vision May Help Track GD3 Severity, Small Study Suggests

News

White spots in the field of vision, called vitreous opacities or floaters, may be associated with worse neurological symptoms in people with Gaucher disease type 3, according to a small study ... Read more

January 13, 2020January 13, 2020

Type 2 Gaucher Patient Given PR001 Gene Therapy Under Compassionate Use Request

News

A patient with type 2 Gaucher disease received treatment with Prevail Therapeutics‘ investigational gene therapy PR001 under a compassionate use program, the company said. The treatment was administered following approval ... Read more

December 5, 2019December 5, 2019

Gene Therapy Shows Promise for Treating Gaucher Disease, Mouse Study Reports

News

A single injection of a liver-targeted gene therapy in mice leads to sustained production of a working version of glucocerebrosidase, the altered enzyme in people with Gaucher disease, research shows. Carlos ... Read more