Our Science – Gold Website
Bert Gold, Ph.D., FACMG
My research is mainly geared toward understanding the genetic basis of common disease. Common diseases are often described as 'complex' in genetic circles because numerous factors, both genetic and environmental, contribute to their causation. Sorting out how much of the basis of common disease is genetic and how much is environmental is a central task for biology in the 21st century.
Cancer provides an excellent model for a common disease with a genetic basis because it is both common, and is known to have a genetic basis in two senses: First, many cancers are heritable, and cluster in families and ethnic groups. Second, even cancers that are not heritable (called sporadic or idiopathic), are often characterized by changes in the genetic material of transformed cells.
My group studies a number of common diseases known to have a genetic basis. These include breast and prostate cancer, some skin cancers, some cardiovascular diseases, some psychiatric disorders, a few metabolic diseases, some lung disease, and finally, some ocular diseases.
During 2006, my group was privileged to participate in the discovery that Complement gene variations contribute to a model complex disease: Age Related Macular Degeneration. This discovery has been widely heralded as permitting an assessment, perhaps for the first time, of how much gene variation may contribute to a complex disorder.
During 2008, we participated in one of the first Genome Wide Association Studies of Breast Cancer. In that study we replicated the observations of others which suggested that an FGFR2 haplotype affects risk. In addition, our publication implicated a risk locus on Human Chromosome 6. During 2010, we discovered that this FGFR2 locus also modifies the risk of those predisposed to BRCA2 Breast Cancer. We hope our insights will lead to new targeted therapies and more reasoned use of the treatments that we already know about.
This page was last updated on 2/26/2013.