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Epidermolysis Bullosa (EB) Patient Involved in Gene Therapy Study at Stanford

MARCH 29, 2017
Julia Vassey

 

Over 50,000 of people around the world suffer from a rare skin disorder called epidermolysis bullosa (EB). Their skin is fragile like butterfly's wings and falls apart after a slightest touch. The pain can be so unbearable that cases of euthanasia, in the countries where it is permitted, have been reported to end the patients' sufferings.  
 
Doctors at Stanford University, California, have developed an experimental therapy that aims to cure the disease using gene therapy. In the clinical study, genetically corrected EB keratinocytes engineered to express type VII collagen are grafted onto the patient in hopes of creating a healthy layer of skin.
 
This video by Berkeley student Julia Vassey follows 32-year-old EB patient, Monique, as she participates in the gene therapy study. The patient was inspired to enter the study after losing her friend, also a EB patient, to cancer.
 
To learn more about the study, go to
http://med.stanford.edu/dermatology/resources/gsdc/eb_clinic/trials/eb-gene.html 


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