An enlarged spleen or low platelets counts — or both — in a person with difficult-to-diagnose complaints may be a…
Articles by Patricia Inacio PhD
Updated, six-month data from a Phase 1/2 trial show a continued drop in the levels of two disease biomarkers in…
The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However,…
A young man with Gaucher disease type 3 (GD3) developed fat deposits in the eye, called floaters, that impaired…
A newly identified mutation in a region of the GBA gene that lacks  information necessary to make the resulting…
Gene therapy targeting nerve cells restored the production of beta-glucocerebrosidase (GCase) — the defective enzyme in Gaucher…
Lung manifestations are frequent among children with Gaucher disease, with recurrent chest wheezing, greater disease severity, and low…
White spots in the field of vision, called vitreous opacities or floaters, may be associated with worse neurological symptoms in…
A patient with type 2 Gaucher disease received treatment with Prevail Therapeutics‘ investigational gene therapy PR001 under…
A single injection of a liver-targeted gene therapy in mice leads to sustained production of a working version of…