Immediate and long-term benefits of basic research into rare diseases

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.


  1. Mark Dowd says

    But this doesn’t give the bean counters any more beans. You’ve just given them another scoop to get beans with, and that doesn’t count as a bean.

  2. davidnangle says

    I’m very curious about this, if someone has the time: “going in and repairing the defective gene”

    In every cell in the body? In the new cells of the graft? Or is there some specific region that can be corrected, somehow, that will fix what is presumably a body-wide problem?

  3. weylguy says

    “The disorder produces chronic and untreatable wounds that get infected easily and can eventually become cancerous. About 500,000 people worldwide have epidermolysis bullosa.”

    Just another consequence of the sin of Adam and Eve, and another great reason to stop all this here “scientifikal reserch” on these sin-based diseases, get right with God, and start burning godless scientists like PZ Myers at the stake!

  4. lesherb says

    I have the same questions as #2 davidnangle

    How does grafting genetically corrected skin grafts not just be a temporary fix? Won’t future cells still have the genetic fault?

  5. cvoinescu says

    Skin gets replenished from stem cells within itself. Those have been corrected, so all new skin is going to include the fix.

    What I wonder is whether the new skin has, or will grow, the usual assortment of sensory cells (touch, pressure, temperature, pain), whether they are (or will become) functional, and, if not, how much of a problem that is, in the long term.

  6. says

    Davidnangle, lesherb @2 and 7:

    I’m guessing they do like they would for a burn patient, and put the grafts over the damaged areas.

    Cvoinescu @8:

    I don’t know, that’s good thinking. We’ll find out, I’m assuming, from this and future patients.

  7. emergence says

    I’ve been thinking for a while that growing genetically modified organs in vitro as replacements would be more effective at treating genetic diseases than direct gene therapy.

    There aren’t any issues with rejection though, are there? My understanding is that there are specific genes that control immune recognition, and cells don’t have to be genetically identical to avoid a rejection reaction.