Research Overview
Genetics of human diseases
Our laboratory is concerned with studies of genetic changes in diseases and populations. The focus is in two areas:
Cancer Genetics. The recent discovery of two breast cancer susceptibility genes, BRCA1 and BRCA2, offers the opportunity to relate inherited mutations in each to breast cancer in different races or ethnic populations. We are also looking at which mutations may be associated with the development of second primary cancers in breast cancer survivors, and whether co-inheritance of germline or additional somatic gene changes affect patterns of cancer development and clinical course. We are studying the results of BRCA1 and BRCA2 mutation testing of those with breast cancer whose family histories are positive for cancer and the relatives of identified mutation-positive individuals, to gain insight into the effects of environment on penetrance (proportion of mutation carriers that develop cancer), and clinical course.
Cystic Fibrosis. CF is a multi-system disease notable for varying patterns of disease involvement and variable severity; over 500 CF mutations have been reported to date; sequence variants within the CF gene have also been identified; is there a relationship between specific mutations and/or sequence variants and the variability that characterizes the clinical course in this disease? We are studying mutations/sequence variants in patients with disease resembling, but not diagnostic for, CF: including infertile males with structural abnormalities of the vas/epidymis; patients with unexplained chronic lung disease, including asthma; and patients with unexplained chronic pancreatitis. The goal is to relate the functional effects of changes in the CF gene to the clinical consequences observed.
