Xandra Owens Breakefield is an American neurologist who is a professor of neurology at the

Harvard Medical School Harvard Medical School (HMS) is the medical school of Harvard University and is located in the Longwood Medical and Academic Area, Longwood Medical Area in Boston, Massachusetts. Founded in 1782, HMS is the third oldest medical school in the Un ...

. Her research makes use of molecular genetics to understand the origins of inherited neurological diseases.

Early life and education

As a child, Breakfield was undecided about what she would do when she grew up. Her mother told her she had to attend college or work in a dime store, so Breakefield decided to attend college. Breakefield enrolled as an undergraduate at Wilson College, where she discovered the joy of learning. She was an undergraduate at the time that

DNA Deoxyribonucleic acid (; DNA) is a polymer composed of two polynucleotide chains that coil around each other to form a double helix. The polymer carries genetic instructions for the development, functioning, growth and reproduction of al ...

had first been described, which inspired her to pursue something scientific. She earned her doctorate at

Georgetown University Georgetown University is a private university, private Jesuit research university in Washington, D.C., United States. Founded by Bishop John Carroll (archbishop of Baltimore), John Carroll in 1789, it is the oldest Catholic higher education, Ca ...

, then was a postdoctoral researcher at the

National Institutes of Health The National Institutes of Health (NIH) is the primary agency of the United States government responsible for biomedical and public health research. It was founded in 1887 and is part of the United States Department of Health and Human Service ...

, where she worked alongside Marshall Warren Nirenberg. She then moved to the United States' first human genetics laboratory. She was inspired by human genetics, and eventually led the team that discovered the genetic markers for the

dystonia Dystonia is a neurology, neurological Hyperkinesia, hyperkinetic Movement disorders, movement disorder in which sustained or repetitive muscle contractions occur involuntarily, resulting in twisting and repetitive movements or abnormal fixed po ...

gene.

Research and career

Breakefield's early work considered the

nerve growth factor Nerve growth factor (NGF) is a neurotrophic factor and neuropeptide primarily involved in the regulation of growth, maintenance, proliferation, and survival of certain target neurons. It is perhaps the prototypical growth factor, in that it was ...

, a protein involved in the development of sensory neurons, catechol-O-methyltransferase and

monoamine oxidase Monoamine oxidases (MAO) () are a family of enzymes that catalyze the oxidation of monoamines, employing oxygen to clip off their amine group. They are found bound to the outer membrane of mitochondria in most cell types of the body. The fi ...

. Breakefield uses molecular genetics to understand inherited variations in neurological disease. To achieve this, she uses new viral vectors to enhance gene delivery and develops new therapeutic modalities. In particular, she has developed strategies to identify the genes that cause movement disorders (e.g. early-onset torsion dystonia and X-linked dystonia parkinsonism). In addition, she has studied the extracellular vesicles that are released by cells of

brain tumor A brain tumor (sometimes referred to as brain cancer) occurs when a group of cells within the Human brain, brain turn cancerous and grow out of control, creating a mass. There are two main types of tumors: malignant (cancerous) tumors and benign ...

, looking at how they modify their microenvironment to promote tumor growth.

Awards and honors

* Mathilde Solowey Neuroscience Award * NARSAD Distinguished Investigator Award

Selected publications

* * *

References

{{DEFAULTSORT:Breakefield, Xandra Year of birth missing (living people) Living people American neurologists 20th-century American women physicians 20th-century American physicians 21st-century American women physicians 21st-century American physicians Georgetown University alumni Wilson College (Pennsylvania) alumni Harvard Medical School faculty Massachusetts General Hospital faculty American women neurologists