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University of Colorado Denver | Anschutz Medical Campus

University of Colorado Denver, Newsroom
 

Helping Adam

Stem cell research gives hope to young patient


by Vicki Hildner

Shortly after Adam Klafter was born, the neonatologist came to visit his mother in her hospital room. Kelly Klafter listened to what he said and thought, “You must be in the wrong room, because you are not talking about my baby.”
 
The doctor was there to tell Kelly that, in 20 years of practice at a hospital averaging 30,000 births a year, he had seen only one other baby born with this disease.
 
Adam was number two.
 
 

EHK: “Just one single letter was wrong”

Today, with his bright eyes and engaging smile, 10-year-old Adam Klafter looks just like his father, Mark—except for the disease that has ravaged his skin and changed his life. Ask Adam what is wrong, and he spits out the answer with just a touch of impatience to remind you that he’s been asked this before, and you can’t trip him up: “Epidermolytic hyperkeratosis. Man, that’s hard!”
 
It is a mouthful, which is why most people use the acronym “EHK.” Adam did not inherit EHK. It was caused by a random mistake, one tiny piece of incorrect genetic code. Dennis Roop, PhD, director of the Charles C. Gates Center for Regenerative Medicine and Stem Cell Biology, compares the DNA sequences that make up the genetic code to a 300 page book, with hundreds of words on each page.
 
“In Adam’s case, there was one typo in one word out of 300 pages,” said Roop. “Just one single letter was wrong, and that caused this terrible disease.”
 
Think of skin as a house built with bricks and mortar. The bricks are skin cells, and the mortar is protein that holds the skin together and creates a solid structure. With EHK, the recipe for mortar isn’t right. Instead of holding together, Adam’s skin is fragile; it blisters and tears at the least touch.
 
“When he was a baby,” said his father, “if we picked him up under the arms, we left four fingerprint blisters on his back on each side. So we carried him around like a tray of glasses.”
 
But the body is smart. When it realizes the skin has torn, it makes new skin to repair the injury. In Adam’s case, his body is constantly making new skin to heal the countless insults that occur with routine movements like walking on his feet, bending his knees, using his fingers. As a result, Adam has layers of thickened skin on some parts of his body. At the same time, he is constantly shedding skin from other parts of his body.
 
EHK is no picnic for a 10-year-old. “I can’t play football. I can’t be on any team,” said Adam. “I can’t ride down the slide at the playground or play on the monkey bars.” He doesn’t even mention the other challenge of EHK.
 
“Those areas that blister most frequently, like his hands and his feet, are very painful,” said Roop. And yet, Adam bounces through life with equanimity.
 
“To some degree, he doesn’t complain because it’s the only skin he knows,” said Mark Klafter. “With the help of Dennis, we hope that one day he will know a different skin.”
 

Adam’s hope: “He could cure EHK”

In March, 2010, a pediatric dermatologist at Children’s Hospital Colorado biopsied some skin cells from underneath Adam’s arm. In his laboratory in the Gates Center for Regenerative Medicine and Stem Cell Biology on the Anschutz Medical Campus, Roop is changing those cells in a multi-step process:

  • Removing their memory, reprogramming them into induced pluripotent stem cells, so they look like embryonic stem cells, which are capable of becoming any kind of cell;
  • Repairing the one defective genetic area by supplying the cells with normal DNA; and
  • Differentiating the corrected cells into healthy skin stem cells.
 
Roop envisions the next step would involve expanding the corrected cells. Finally, parts of Adam’s defective outer layer of skin would be removed by a laser and replaced with a patchwork quilt of the new skin that will regenerate the outer layer of skin. Because the cells would be returned to the same person who donated them, the chance for rejection would be reduced.
 
And when might this happen? “The goal is to get our research efforts here in the lab into the clinic as fast as possible,” said Roop.
 
Adam is optimistic.
 
“He could cure EHK,” he said. 
 

The future: “These kids are really counting on us”  

The Klafter family has become active in fundraising for EHK research through the Foundation for Ichthyosis and Related Skin Types (FIRST). “We have supported Dr. Roop’s research for the past five years, because his work shows so much promise for EHK,” said Mark. “He presents our greatest hope for a better future for Adam.” 
 
Just outside Roop’s lab hangs a large poster with images of five children affected by different skin diseases. One of the images is a smiling Adam. Roop has a reason for making the children a prominent feature in his lab. 
 
“I think after you see the kids, you’ll never look at the way you do research the same,” he said. “These kids are really counting on us, and we should be aware of that every day.”

Published:  August 6, 2012
Contact:  stories@ucdenver.edu

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