Enzyme replacement therapy (ERT) can help restore the normal organelle recycling processes that happen in cells, improving energy production in Gaucher and Fabry disease patients, a study has found. The study, “Impaired autophagic and mitochondrial functions are partially restored by ERT in Gaucher and…
A computer simulation — examining how some therapies interact with the two most common β-glucocerebrosidase (GBA) mutated forms in Gaucher disease — identified NN-DNJ and ambroxol as the most active treatments for correcting the 3D structure of the GBA protein, and helping it reach its correct location, a study has found.
Two new stem cell lines from patients with Gaucher disease have been developed and made available for studies, researchers report. The induced pluripotent stem cell (iPSC) lines — adult cells reprogrammed to a stem cell-like state that can give rise to any tissue in the human body — were…
A new case report describes an infant who presented with two rare blood cell diseases simultaneously: Gaucher disease (GD) and severe congenital neutropenia (SCN). This is the first reported case of both diseases occurring in a patient at the same time. The study, “Coexistence of Gaucher Disease…
A Canadian study shows that it is feasible to screen high risk patients — those with an enlarged spleen, low platelet levels, or both — for Gaucher disease in general hematology clinics. The study, “Gaucher disease screening at a general adult hematology tertiary care centre: A prospective…