Perinton man making progress against deadly disease

Children's Hospital at Strong researcher studies disease that affects children

September 09, 1999

Tucked away in a remote laboratory, David Pearce works seven days a week to put an end to a lethal childhood disease - and the Perinton man is making significant headway. Pearce's cutting-edge research - the first to successfully incorporate new genetic technology with basic biochemistry to determine the cause of an inherited illness known as Batten's Disease - was published in a recent issue of Nature Genetics.

About 7,000 U.S. children suffer from Batten's Disease, which strikes apparently healthy four- and five-year-olds, blinds them by age seven, and degrades all their mental functions until their death, usually in their middle to late teens.

"It's a childhood disease, which makes my research very important to me," Pearce, a researcher at Children's Hospital at Strong, said. "It's a nasty, nasty disease. If we can find some way to help these poor kids, then it makes all the effort worthwhile." An estimated 440,000 people are carriers of the gene that causes Batten's disease. A carrier is a person who has inherited one copy of a defective gene from one parent, and a healthy copy of the same gene from the other. The gene from the healthy parent overrides the defective one, and the carrier does not get the disease.

If, however, two carriers have a child, the child has a 25 percent chance of inheriting only the defective genes from both parents. Without an overriding healthy gene, the child is born with Batten's disease.

Pearce, who lives at 12 Inverness Circle, has discovered how the same defective gene that causes the disease in human cells behaves in yeast cells. Many of the genes found in human DNA have similar counterparts in cells of other organisms like yeast.

"Parents usually have no idea that their child has this genetic defect," Pearce said. "It's usually spotted when their child is having vision problems at age 4 and an optometrist can't find anything specifically wrong. The child loses balance, the ability to walk, and even starts forgetting words. It's not until a genetic test for Batten's is performed that they really know what's wrong with their child."

There is no cure or effective treatment for children with Batten's disease. Though the gene that causes the disease has been known for years, doctors have not been able to create any kind of gene therapy because of the location and nature of the malfunctioning protein.

"Though gene therapy doesn't seem like it will be the cure for Batten's, now that we know the process by which the defective gene most likely causes the disease, we can concentrate on finding some way to interrupt that process," Pearce says.

This fall, Pearce will continue studying Batten's Disease when he moves into a new laboratory in the Center for Aging and Developmental Biology - part of the University of Rochester's newly constructed Arthur Kornberg Medical Research Building.

Pearce lives in Perinton with his wife, Suzanne Nott - an attorney at Underberg & Kessler - and their son Matthew, who will be 3 in October. The couple moved to Perinton from Rochester so they could "get onto a nice, quiet cul de sac, to feel like we are in the countryside."

Cutline: David Pearce, a researcher at Children's Hospital at Strong, works in his laboratory seven days a week to learn more about Batten's Disease, which affects children. He calls the illness "a nasty, nasty disease," and hopes his research will eventually lead to a cure.

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