Geneorb - Service Service A. Diagnosis and Management of Metabolic Disorders B. Gaucher Disease Diagnosis and Treatment Center C. Human Gene Therapy Application Laboratory D. Diagnosis and Counseling on Inherited Disorders Affecting Ashkenazi Jews E. Requisition Forms for Genetic Testing A. Diagnosis and Management of Metabolic Disorders Patients referred for consultation undergo clinical evaluation, genetic counseling, and management services. Areas of concentration are the urea cycle disorders and lysosomal storage diseases.
Evaluations vary according to the purpose of the visit.
All of this information is important to determine the severity of the disease, to evaluate disease progression, and to establish medical recommendations. Each patient meets with a genetic counselor to discuss the way Gaucher disease is inherited as well as options available for treatment and management of the disease. The director of the program is John A. Barranger, M.D., Ph.D. Dr. Barranger was instrumental in the development of enzyme therapy for people with Gaucher disease. He joined the University of Pittsburgh in 1990 to continue his search for a cure for Gaucher disease. Throughout the United States, more than 130 studies have been initiated to investigate gene therapy strategies.