A genetic support group of approximately 100 families from the United States and abroad collaborated with researchers at the University of California, San Francisco, on research that has identified three genes associated with a rare condition known as cardio-facio-cutaneous (CFC) syndrome. Their work should make possible a better understanding of this complex developmental disorder. The findings have been reported in the online version of the journal, Science (January 26, 2006).

Since 2003, the families of CFC International have collected medical reports, photographs and the DNA of family members diagnosed with the condition. The DNA was collected through a biobank established by the patient organization.

The information and DNA samples allowed Dr. Katherine A. Rauen and her colleagues at the UCSF to identify three genes—known as BRAF, MEK1 and MEK2—that play a role in the development of this disorder. By studying the factors that cause the disorder to occur, the researchers hope ultimately to develop possible treatment options.

At the present time, there is no therapy for CFC other than treatment aimed at specific conditions associated with the syndrome. CFC is characterized by unusually sparse, brittle, curly hair; skin abnormalities; heart malformations that are present at birth or develop later; growth delays; and/or varying degrees of mental retardation.