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Lab Phone: 617-726-5728
Xandra O. Breakefield, PhD
Research Investigator Profile
Molecular genetic and imaging methods are used to gain insight into the molecular etiology of torsion dystonia and to develop strategies for brain tumor therapy.
Torsion dystonia is a movement disorder characterized by contracted postures due to abnormal sensori-motor communication. The protein, torsinA responsible for most early onset cases is a AAA+ protein localized in the endoplasmic reticulum (ER) and nuclear envelope (NE). TorsinA is expressed at highest levels in the perinatal period in neurons and appears to be involved in protein secretion and linking the NE/ER to the cytoskeleton. Current studies (Dr. Nery) focus on understanding the role of torsinA in neuronal migration using time lapse confocal microscopy. Parallel efforts (Dr. Bragg) use high throughput screening methods to identify drug candidates which can normalize functions in cells expressing mutant torsinA.
Research on brain tumors uses HSV, AAV and lentivirus vectors to deliver therapeutic genes and imaging reporters in mouse models of glioblastoma, as well as meningioma and schwannoma tumors associated with neurofibromatosis type 2 and cortical overgrowths associated with tuberous sclerosis. The current focus is on understanding how microRNA regulate tumor growth (Drs. Saydam & Wurdinger) and how tumors modify their environment through release of microvesicles (Dr. Skog).
To learn more, visit the Breakefield Lab.
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