Development of autologous transplantation of genetically corrected hematopoietic stem cells for Friedreich Ataxia

Previous studies have suggested that bone marrow transplantation can improve symptoms in a mouse model of Friedreich’s ataxia. A conclusive demonstration of the efficacy and feasibility of such an approach for this disease would enable a one-time treatment for this otherwise devastating disease. If such benefit were to be firmly established, as it has in other neurological diseases, donor-blood stem cell transplantation could quickly become a treatment alternative for individuals with Friedreich’s ataxia, while launching the development of patient-derived stem cell transplantation approaches in which the patient’s own stem cells have been genetically corrected. Dr. Gomez-Ospina proposes to investigate the application of blood stem cell transplantation to treat Friedreich’s ataxia by 1) performing stem cell transplantation experiments into a new model of Friedreich’s ataxia and assessing the molecular and functional outcomes, 2) using genetic engineering to investigate whether expression of the protein Frataxin is required in specific blood cell types for the therapeutic benefit of stem cell transplant, and 3) establishing an in vitro model to assess if cellular bodies called mitochondria undergo inter-cellular transfer to confer function to neighboring cells. These studies will provide support for further development of a blood stem cell-based therapy for Friedreich’s ataxia.