Xandra Breakefield, Ph.D.
Professor of Neurology
Massachusetts General Hospital - East
Charlestown, MA 02129
Fax: 617- 724-1537
Lab website: The Breakefield Lab
My research has centered on understanding and treatment diseases of the nervous system. My particular expertise is in molecular genetics, including human genetics, gene therapy and biomarker development with a focus on brain tumors and movement disorders. We have used viral vectors, including retrovirus, HSV, AAV and amplicons for gene delivery, as well as migratory neuroprecursor cells, for delivery of therapeutic proteins and pro-drug activating enzymes for experimental brain tumors. Our recent work focuses on characterization of the nucleic acid content of exosomes (microvesicles) released by tumor cells, including their use as biomarkers in the serum of cancer patients for genetic evaluation of tumors, their ability to carry out horizontal gene transfer to other cells to promote tumor growth; and their potential for tumor therapy. In addition, since identifying the gene for early onset torsion dystonia in 1997, we have worked on understanding the function of the defective protein, torsinA. We have shown that torsinA, an AAA+ ATPase in the lumen of the nuclear envelope and endoplasmic reticulum of all cells, is involved in positioning of the nucleus during cell migration and in chaperoning proteins in the secretory pathway.
For a complete listing of Xandra Breakefield's publications on PubMed, click here.