Cracking the Code of GBA1-Associated Parkinson’s Disease and Lysosomal Storage Disorders: Transforming Diagnosis and Management
Dr. Andres Deik, Dr. Ozlem Goker-Alpan, and GCA co-founder and co-president, Aviva Rosenberg, along with Peerview Institute for Medical Education, have collaborated on this project to produce educational materials for patients to better understand the connection between Parkinson’s and Gaucher disease and seek appropriate screening. These online resources are intended to raise awareness concerning the link between Parkinson’s and GBA-1 related conditions and allow for patients to learn and share this information with their personal physicians.
Lysosomal storage disorders (LSDs) are rare, inherited diseases caused by enzyme deficiencies that lead to toxic buildup in cells, resulting in organ damage and often premature death. This group includes GBA1 mutation–driven conditions like Gaucher disease and GBA-associated Parkinson’s disease (GBA-PD). Diagnosis is often delayed for years, limiting access to timely care. While enzyme replacement and substrate reduction therapies can help some Gaucher subtypes, they can’t cross the blood–brain barrier and don’t address neurological symptoms. Promisingly, emerging gene therapies offer hope for one-time treatments that target both systemic and neurologic disease processes—potentially transforming care. Watch this expert discussion, and see if it helps you crack the code for LSDs!
Cracking the Code Flyer for Education and to bring to physician’s office. Download here.
Information about Gene Therapy Clinical Trial for GDA Parkinson’s. Download here.
Genetic Testing and Gene Therapy Resources for Providers and Patients. Download here.