The science behind the medical research involving the Reese family of McHenry might be difficult to explain.
But the reason they’re involved is quite simple.
“To help my children, to help other people’s children,” said Tim Reese, who suffers from Best disease and slowly is losing his eyesight. “When you leave this earth, you have to leave something. You’ve got to do what you can to help people.
“There is no cure for me. There is no cure for it... who knows what they could come up with.”
Reese and his sister, Theresa Selzer of Woodstock, recently donated skin cells in a University of Wisconsin laboratory. The cells were turned into stem cells and then used to create retina tissue. It is the first time research like this has been done to create a model of the eye disease.
Because all of the genetic makeup of an individual is contained in a stem cell, the stem cell will have the disease.
So when those cells are turned into retina cells, researchers can study the very cells that have died or are dysfunctional in the patient, explained Dr. David Gamm, the director of the University of Wisconsin-Madison’s McPherson Eye Research Institute.
They then can compare those cells to healthy retina cells.
“I can’t go in and take his eyeball out,” said Dr. Gamm, one of the lead researchers for the study. “I can’t go in and take his retina out and say, ‘OK, what went wrong here?”
But the recreation of the retina cells using stem cells allows him to test drugs and other potential treatments, he said. One day, researchers would like to be able to fix the genes that caused the disease, perhaps even replace bad genes with good genes.
Though researchers do know which gene causes the disease, they do not know why that gene becomes dysfunctional and eventually leads to blindness, Gamm said.
“It like saying, ‘I know I have a carburetor, but I have no idea how a car works,” he said.
Research to find treatments typically is done using animals, but this allows researchers to look at actual human cells in a dish with hopes of slowing down, preventing or even reversing the disease, he said.
“It’s kind of a flagship for other diseases too,” he said. “You could do the same for things with the heart, neurological diseases... It’s a powerful tool that we have as a result of stem cell technology.”
Reese, a 55-year-old construction worker, has known of his disease since 1964.
Best disease is genetic and has a 50 percent chance of being passed along to children. Of Reese’s two grown children, both have the gene that causes the disease, but they have yet to experience symptoms.
Reese said his eyesight progressively gets worse every year.
His late mother had the disease, and four of her seven children are now suffering from it.
“You could just watch her through the years, just totally lose her sight and not know who you are,” Reese said of his mother.
“That’s where I will be some day. I can see it. I should say I can’t see it,” he added with a laugh. “I use humor to get through. You have to stay positive. You hope there’s a cure, not for me, but anything I can do to help, I don’t care whose kids. Nobody should have to go through this.”
Though one of the three siblings not diagnosed with the disease, Selzer also wanted to do everything she could to help. She donated her healthy cells to use as comparison in the study.
The process involves taking a roughly quarter-inch sample of all of the layers of skin out of your arm.
“It’s just a little hole they poke in your arm, just taking a quarter hole out of your arm,” Reese said. “You don’t even feel it. I do more damage to myself every day.”
Selzer also watched her mother struggle, and remembers her inability to read cookbooks. More tools, such as magnification devices and such, are available these days to help.
But it’s still so unfortunate that people have to go through it, Selzer said.
“It’s very important for me to be a part of this research to help in any way, maybe not this generation, but the next one or the one after that,” she said.
The two say researchers explained as best they could the entire process involved, but all they really needed to know was that it is for a good cause.
“It’s mind blowing,” Reese said. “I’m a high school graduate. I’m just a construction guy, and seeing what they’re doing is unbelievable...
“(Dr. Gamm) has the bat and ball. It’s his game. I would do anything for that man. People should.”By JAMI KUNZER – email@example.com