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

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 1. That condition is described in the case report, “A novel mutation deep within intron 7 of…

Case Report Raises Awareness on Multiple Myeloma Risk in Gaucher Disease Patients

A case report describing a man who was diagnosed with multiple myeloma and found to be a Gaucher disease carrier highlights the increased risk for cancer, especially multiple myeloma, associated with Gaucher disease. The case study, “A 30-Year-Old Carrier of Gaucher Disease with Multiple Myeloma,”…