#  Xandra Breakefield 

Professor of Neurology, HMS

Geneticist, Neurology and Radiology, Massachusetts General Hospital

 

 

 



   ![Xandra Breakefield is holding a black-and-white photo of her younger sister, who is pictured with a basket of flowers.](/sites/g/files/omnuum11411/files/styles/hwp_4_5__480x600/public/2026-05/16.Xandra-Breakefield-Questions.jpg?h=3d32f2f7&itok=22aROkjg) 

 



 





 

Many people view research scientists as a bit nerdy, even boring. In fact, we are really thrill seekers. We work arduously for years with little reward, all for that glorious moment when we learn something new that no one ever knew before. Intellectual discovery is the greatest thrill. Even better is when that discovery may lead to treatment of some devastating disease.

As a child my younger sister was diagnosed with a hereditary neurologic disease, neurofibromatosis type 1. At the time, there was no understanding of the cause or her fate; even now there is no treatment. I became obsessed with gaining some understanding, and so studied genetics and neuroscience. As a PhD scientist there seemed no place for me in medicine, but in 1984 Dr. Joseph Martin, then Chief of Neurology at MGH, welcomed me into his faculty to study the genetics of hereditary neurologic diseases.

**What are you most proud of about your work at HMS/HSDM?**  
Over a thirty year career here, am most proud of identifying the gene defective in early onset dystonia  
— a terrible disorder that ties up a patient's body but leaves the mind intact-and of going on to develop methods of gene therapy for this and other neurologic diseases. I also take deep pride in the contributions to medicine made by my many trainees over the years. Beginning in my laboratory and then on their own, they have made discoveries that improved understanding of neurologic diseases and brain tumors, and they have developed new tools for therapy. In training young physicians and scientists, it may be that the most important gifts we pass on are the energy and creativity inspired by the real and present need of the patients, and a simple refusal to accept constrictions imposed by the current wisdom.

**What is the significance of the object you brought with you to the photo shoot**?  
I brought a picture of my younger sister to the photo shoot, taken at about the age when she was diagnosed. Fortunately her condition is mild and she is still going strong, but not without cost. Knowing that her disease is hereditary she forsook marriage and children, instead using her maternal skills to help troubled teenagers find a way forward.



 

 

 



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- ## Person Categories
    
     [Dimensions](/person-categories/dimensions)
- ## Institution
    
     [Massachusetts General Hospital](/institution/massachusetts-general-hospital)