I presume you’ve all read about this marvelous work on correcting a rare and terrible genetic disease, epidermolysis bullosa. It’s a mutation that causes the skin to blister up and tear, basically; it’s a horrible disease that makes life miserable and a constant source of pain and infection.
Patients with epidermolysis bullosa live in excruciating pain, their skin so fragile to the touch that those born with the disorder have been nicknamed “butterfly children.” The disorder produces chronic and untreatable wounds that get infected easily and can eventually become cancerous. About 500,000 people worldwide have epidermolysis bullosa.
Now it has been successfully treated by combining a technique for generating skin grafts from stem cells that was first developed for burn patients, with gene therapy, going in and repairing the defective gene, and then growing the new graft from the patient’s own gene-corrected cells. It seems to be a total success.
In August, De Luca and Pelligrini got the green light to try their technique. In September, they collected a square inch of skin from Hassan’s groin—one of the few parts of his body with intact skin. They isolated stem cells, genetically modified them, and created their gene-corrected skin grafts. In October and November, they transplanted these onto Hassan, replacing around 80 percent of his old skin.
It worked. In February 2016, Hassan was discharged from the hospital. In March, he was back in school. He needs no ointments. His skin is strong. It doesn’t even itch. “He hasn’t developed a single blister,” says de Luca, who shared the details of Hassan’s story with me. “He’s gaining weight. He’s playing sports. He’s got a normal social life.”
Solely from a humanitarian aspect, this is a triumph. But there’s another side to it as well, that addresses the kind of complaint we might get from bean-counters. This is a relatively rare disease. It would be far cheaper to just let its victims simply suffer and die out. The articles don’t talk about it, but I’m sure the cost of culturing and growing and applying gene therapy to new skin for this one victim was extravagant to an extreme. But that isn’t the point — in addition to being a clinical treatment for one person, this represents basic scientific research on a core problem, how to generate reliable quantities of genetically modified tissue.
It is the same rational we use for all basic research into rare diseases — not only is it the right and humane thing to do, but figuring out how to deal with it adds a new tool to our toolbox and gives us deeper understanding of fundamental cellular processes.