Scientists Grew a Full Body Skin Replacement for Boy with EB

0

Two years ago, a seven-year-old boy from Syria was in dire condition. 80% of his skin was gone; his entire body covered in wounds and abrasions. He still had some skin on his face, and a little on one leg; nothing else remained.

The boy was born with epidermolysis bullosa (EB), a rare genetic disorder that causes severe blistering. Patients with this condition are commonly referred to as Butterfly Children because of their extremely fragile skin. Any form of pressure can wreak havoc, even the water from a shower, or the gentle touch of a caregiver. The boy from Syria had the most fatal type of EB, junctional epidermolysis bullosa (JEB). To learn more about this rare disease, click here.

The odds of recovery were bleak. Doctors had tried all the routine treatments, to no avail. The damage was too widespread, and so the doctors started to administer morphine to ease the boy’s pain, during what they believed were his final days. The doctors had tried to graft skin from his father, but his body rejected the transplant. Not only did they need an entire body’s worth of new skin to save him, but it had to be skin that could integrate smoothly into his body– and who has access something like that?

When there was almost no hope left, stem cell researchers provided an incredible new option. The boy’s family found a group of Italian scientists from the University of Modena, who they hoped could fabricate a whole new body of skin in the lab. The team had ventured into smaller stem cell skin transplants with positive outcomes, but they had never taken a task as daunting or historic as what they now faced. There was no guarantee this would work.

This is what they did: first, the scientists sampled skin cells from the patch remaining on his thigh.

Then they administered a special virus to these cells, that were able to enter the boy’s DNA, find the mutation responsible for EB, and actually fix the faulty gene.

Once the cell was fixed, they needed more of them, so they grew colonies and colonies of the new, improved cell. Eventually they had sheets and sheets of the boy’s skin– totally functional, EB-free, lab grown skin.

After that, they grafted the skin onto the boy in patches. This is basically the same process as a doctor would use to treat a burn victim, on a very large scale. It took a few months, but over time, the new skin actually melded itself into the boy’s body. It started shedding and replacing itself, just like anyone’s skin. Since the gene was corrected, it didn’t blister at every touch like his old skin did.

It’s been two years since the surgery, and the boy’s life has been transformed. Before, his skin couldn’t tolerate even a light touch, now he loves playing soccer. He goes to school with other kids; his skin heals normally. It’s hard to believe that he went from hanging onto life by a thread while suffered from a debilitating condition, to living an ordinary life, totally free of ointments and daily medicines.

Not only did the researchers save a child who was deemed untreatable, but they made a leap forward in the field of regenerative medicine. It’s an important story that reminds us, when someone says a rare disease is “untreatable,” it only means that it hasn’t been treated yet.

To read about this story in the Guardian, click here.

To read the study, click here.


Comments

comments

NO COMMENTS

Have something to say? Comment here...