To Teach To Heal To Discover

Sally Lindholm Endowed Chair in Genetics

Thanks to the generosity of philanthropist of Sally Lindholm, the Steele Center can conduct important research that will help children suffering from albinism and other similar genetic diseases through the Sally Lindholm Endowed Chair in Genetics.

Murray Brilliant, PhD, Professor, was appointed the Lindholm Chair in 1998. Dr. Brilliant's research 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 are albino. The disorder is called albinism and there are several types.

"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, more than 80 percent of the albinos develop skin cancer and most often it is fatal."

The incidence of albinism is 1 in 10,000 among African Americans, but in some populations in Africa, the incidence approaches 1 in 2,000. This disorder also is very common among the Hopi Indians, where 1 in 200 are albinos.

"Our research lab identifies the gene in 1992 and now is working to completely understand the function of the P protein,"

The work in Dr. Brilliant's lab is helping scientists all over the world better understand pigment disorder. Br. Brilliant collaborates with national and international foundation to raise awareness about the risk of skin cancer among albinos and to create education and outreach programs.

Other areas of interest in Dr. Brilliant's genetics lab include the study of genes associate with cleft palate, congenital cardiomyopathy, sterility and a rare, often fatal, genetic disorder called Hermansky Pulak syndrome.

 

 
UA College of Medicine