Genetics

Dr. Bob Erickson recently was part of a team that cloned the gene that causes Athabaskan Brainstem Dysgenensis, a genetic disease found in some Native American populations.

Genetic research and genetic discoveries are changing the face of medicine. The human genome project is paving the way for scientists to eventually understand every bit of human DNA and be able to predict and possibly prevent diseases.

Several important genetic research projects are underway at the Steele Center. Niemann Pick Type C (NPC) is a disease most Tucsonans hadn't heard of until a few years ago. In fact, many doctors were unfamiliar with this genetic disorder because it is so rare. Only 600 children in the United States have NPC and three of them are children of Cindy and Mike Parseghian. Their son Michael died of the disease in 1997, a week before his tenth birthday, and daughter Christa died in 2001 at the age of ten. Their daughter Marcia recently passed away at the age of sixteen. Researchers (Bob Erickson, MD; Sherman Garver, PhD; and Randall Heidenreich, MD) at the Steele Center are working to fully understand the molecular underpinnings of this genetic disease. The gene responsible for the disease has been isolated and now Steele Center researchers are trying to fully understand the function of the protein expressed by the NPC gene. "NPC is a gene that's present in every cell in our bodies, but only certain cells require the protein produced by the gene," Dr. Heidenreich says. "This is the reason that some cells, like liver and brain cells, are affected by this condition. Understanding the function of the NPC protein will help to find medications that may correct the dysfunction."

Murray H. Brilliant, PhD, is focused on identifying and understanding the function of several genes associated with human genetic disease. Of particular interest is the "P" gene, required for normal pigmentation. People lacking a normal copy of the "P" gene cannot efficiently produce melanin pigment and have one of the several types of albinism. "The problems associated with albinism are much more than cosmetic," Dr. Brilliant says. "People with albinism have profound vision problems and a dramatically increased risk of skin cancer. In Africa (where P gene albinism is common), more than 80 percent of the albinos develop skin cancer and most often it is fatal." Another form of albimism studied in Dr. Brilliant's labe is Hermansky-Pudlak Syndrome.

The work in Dr. Brilliant's lab is helping scientists all over the world better understand pigment disorders. Other areas of interest in Dr. Brilliant's genetics lab include the study of genes associated with cleft palate, congenital cardiomyopathy, and sterility and a rare, often fatal, genetic disorder called Hermansky-Pudlak Syndrome.