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Rare Genetic Disease, Epidermolysis Bullosa, may Just Be Conquered

by Medindia Content Team on November 2, 2007 at 7:35 PM
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Rare Genetic Disease, Epidermolysis Bullosa, may Just Be Conquered

Two boys Jake and Nate suffer epidermolysis bullosa, an extremely rare but debilitating genetic disease. The brothers were born with this condition.

Epidermolysis bullosa is a condition where the vital protein called collagen VII that causes the skin to stick to the muscle, is absent. Due to this, the skin is always peeling off. In the absence of any successful treatment to arrest the condition, the victims may eventually succumb to skin cancer.


In the case of Jake and Nate, both parents were carriers of this aberrant gene. At the persistence of their mother, Theresa Liao, Doctors performed a bone marrow transplant on Nate. Earlier tested on mice and found to be 25% successful, doctors transplanted bone marrow and cord blood cells from the healthy sibling Julian; A catheter was employed to transplant bone marrow and cord blood cells into Nate's chest and then into the blood stream.

Doctors are now keeping their fingers crossed and are hoping that the genetic aberration will stand corrected after the transplant.

If this treatment is successful, it could also pave the way for cures of many other rare diseases.

Source: Medindia


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