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"Confetti Skin, Beauty Within" is our blog about ichthyosis and its effect on our lives. Rachel and our three boys are affected with the form of ichthyosis called "icthyosis en confetti, type 2".

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Here's our summary of our best and most important posts of 2012.

FIRST Funds Cutting Edge Ichthyosis Research: An Explanation for the Rest of Us

We were thrilled to see today’s announcement by FIRST, the Foundation for Ichthyosis and Related Skin Types, that FIRST has made a major research grant to Dr. Amy Paller at Northwestern University in Chicago. Since 2006, FIRST has contributed over $1.4 million to ichthyosis research.

As part of the original purpose of our blog, we wanted to discuss and explain some of the science behind ichthyosis and ichthyosis research. We feel this is especially important because a lot of what’s out there, including FIRST’s announcement is… how shall we put it? It’s a bit hard to unpack if you don’t have a science background. So here’s our effort at explaining why this is so exciting.

To seriously oversimplify the science, it sounds like Dr. Paller wants to take molecules of siRNA, hitch them onto gold nanoparticles, stick that into an ointment that could be rubbed on skin, and then hope that the siRNA molecules can go to town to shut off the dominant gene that causes epidermolytic ichthyosis, leaving the normal copy to go forth and make normal, non-blistering skin. Stay with us for our Q&A on what that means.

Q: Wait a second…did you just talk about a cure for ichthyosis?
A: Hold your horses, pardner. That’s why this is research! It’s all very experimental. That’s why research is so important. Even if this doesn’t work out like planned, scientists doing ichthyosis research will learn a lot about ichthyosis along the way, and how it might react to potential therapies.

Q: So how is this actually supposed to work?
A:Ok, you’re going to have to work with us on some basic science here. Ichthyosis is caused by a specific gene mutation. Different types of ichthyosis are caused by different gene mutations. Dr. Paller’s research here is focusing on epidermolytic ichthyosis, formerly known as epidermolytic hyperkeratosis (EHK), which is known to be caused by specific mutations in the genes called keratin 1 (KRT1) and keratin 10 (KRT10). In epidermolytic ichthyosis, the dominant gene is the mutation that causes the skin to blister and thicken. The normal version of the gene — the one that’s not affected by ichthyosis — is recessive, and it never gets coded into a protein so long the mutated version is active. Dr. Paller is hoping to use siRNA to shut off those specific, known mutations.

Q: Huh? siRNA? You lost me there.
A: siRNA stands for “small interfering RNA“. Ok, we’re now into high school biology and beyond. Genes are made of DNA, which is located in the “brain” of the cell, the nucleus. It is generally all twisty like a fancy hair braid. When cells need to make stuff like hormones and proteins, the DNA unwinds a chunk of the braid and lets RNA copy it. The RNA copy gets kicked out of the nucleus into the body of the cell where it gets copied into some sort of protein, like keratin, that waxy stuff on your skin. siRNA encodes (big word) a specific genetic sequence…

Q: Eyes … glazing …. over…
A: Ok. siRNA is a chunk of RNA used to make copies of longer strands of RNA, which is used to copy DNA (genes). When siRNA works like our genetic engineers want it to, it can “shut off” a specific gene. Like, hopefully, the gene that causes a very specific kind of ichthyosis.

Q: It can’t possibly be that simple. What’s the catch?
A: Well, there are lots of catches. And that’s why we need smart scientists with lots of funding for their research. One of the biggest “catches” is figuring out how to get the siRNA into the cells to begin with. The other “catch” is that sometimes, siRNA starts doing bad stuff.  The writeup from FIRST says, optimistically, that bad stuff hasn’t been observed in cultured human cells or mouse models.

Q: “cultured human cells”? “mouse models”?
A: Yep! Scientists can grow cells with ichthyosis in the lab, to see how they react to treatments. They’ve even made mice with specific forms of ichthyosis, and have been able to run experiments on those mice. There are a lot of steps before we start on humans, though.

Q: What happens once siRNA makes its way into the cell?
A: siRNA breaks up the RNA with the keratin mutation in it, leaving the recessive (normal) gene to make keratin in the cell.

Q: Why do we care?
A: Because if the correct gene propagates, that means normal skin, unaffected by ichthyosis, would start growing wherever the siRNA does its job.

Q: So it’s a cure?
A: Well, this research is a step in that direction. If anything, it’s a treatment because it’s probably not permanent if you stop using it. It’s a really neat idea. It’s an exciting idea, but it might not work for a lot of reasons. This is all very complicated stuff, and researchers run into trouble every step of the way. It also will take years before we know if this even has potential.

Q:Wow! Sign me up! What can I do to help?
A: This is all very theoretical. We don’t know whether it’s going to be successful or not — that’s why (presumably) FIRST funded the research. It’s many years away from being published and review; we don’t know what results Dr. Paller is going to get. It could be a dead-end; or it could be wonderful. We won’t know until she runs her experiments and publishes her results. If you want to help, the best thing you can do is to donate to FIRST‘s research program, so FIRST can fund additional cutting-edge ichthyosis resesarch.

Q: But it’s still awesome, right?
A: Definitely!

Disclaimer: Dr. Paller is one of our personal physicians, and we consider her a friend. Rachel is a member of the Board of Directors of FIRST, but this post is not endorsed by and has not been approved by Dr. Paller, the FIRST staff, the MSAB or anyone else other than the two of us. It’s our (lay) opinion alone. All errors and inaccuracy from gross oversimplification or lay speculation are ours and ours alone.

12/4/2012 update: FIRST’s latest newsletter contains some additional tidbits regarding this research, which we blogged about in the post, Ichthyosis Research: Updates from FIRST.

1 comment to FIRST Funds Cutting Edge Ichthyosis Research: An Explanation for the Rest of Us

  • Pauline

    Hi Jennifer.

    Very exciting stuff indeed. I just came across your website here, from the facebook link to this research. Well done your your website, it looks beautiful.

    Love Pauline

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