The genetic analysis of simple and complex human traits has been made easier by studying both large, multiply affected families and current descendants of founder populations. I am interested in mapping and characterizing genes causing human disease in large families from the historically isolated population of my home province of Newfoundland, Canada.
The goal of the Newfoundland Breast Cancer project is for the breast cancer experience of Newfoundland families to serve as a model for familial breast cancer. We have ascertained all known familial cases of breast/ovarian cancer in the population. We are doing comprehensive screening of affected families for germline mutations in the BRCA1 and BRCA2 genes to determine the proportion of familial breast cancer due to mutations in these cancer predisposing genes. Phenotype studies of multiplex and multi-generational families allow us to assess cancer phenotypes over time, like lifetime cancer risk of BRCA1 and BRCA2. Our long-term goals for this project include identifying new breast cancer genes and characterizing those that are frequent (founder mutations) in the population.
In the past fives years, more than 70 genes causing deafness have been mapped. We are currently collecting familial cases of nonsyndromic hearing loss in Newfoundland in a bid to identify the genes causing inherited hearing loss in the Newfoundland population. We recently identified the cause of an autosomal form of low frequency hearing loss in a six generation kindred and observed the effects of mutation in a homozygous carrier. Our long-term goals for this project include identifying new deafness genes and their modifiers.
