BRCA Initiative Aims to Increase Access to Testing
Women and men with the BRCA gene mutation have a greater risk of developing several types of cancers, including breast, ovarian and prostate, among others. It is estimated that 90 percent of carriers do not know they are at risk until someone in their family gets cancer. “For every carrier we identify, 50 percent of that patient’s blood relatives will also be carriers,” says Beth Y. Karlan, MD, vice chair of women’s health research in the UCLA Department of Obstetrics and Gynecology and director of cancer population genetics at the Jonsson Comprehensive Cancer Center. Read more >
UCLA Registry Helps Researchers and Physicians to Better Understand Dwarfism
“When this registry was started, it was thought that dwarfism was just one or two disorders. Now we know that there are approximately 450 distinct forms,” says Deborah Krakow, MD, UCLA professor of orthopaedic surgery and genetics, co-director of the registry and chair of the Department of Obstetrics and Gynecology. “We have found the genes involved in 350 of these disorders — the most common ones — and are now trying to understand how these genetic defects affect cartilage, bone, tendon and muscle, and to use that deeper understanding to make a positive impact on patients.”
