Our laboratory has collaborations with those of Dr. Moien Kanaan of Bethlehem University and Dr. Karen Avraham of Tel Aviv University, who have helped us establish genetic studies of Middle Eastern origin. Results from these studies will one day benefit people from this region and the world. In the Middle East, particularly Palestine, deafness is prevalent due to the genetic isolation of the populations, often leading to consanguinity and hence the observation of traits with a recessive mode of inheritance. We have sampled many families with hearing loss and studies are now underway to identify the genes responsible in these families. Together with Tom Walsh and Hashem Shahin from Dr. Kanaan's lab, I am working on genome -wide linkage analysis in the families in order to identify regions linked to deafness, after which point fine mapping using many micro-satellite markers will be performed to minimize the linked region, and candidate genes within the region are then analyzed by sequencing of coding regions plus all splice junctions in order to ascertain a causative mutation for the phenotype. These studies have reached different stages in different families with interesting results.
In addition to the above, I am interested in mouse genetics, in particular the use of gene knockout technology to generate mouse models of diseases. We are currently in the process of generating one model of deafness and, as future deafness genes are identified, further models are likely to follow.
In the breast cancer field my contribution involves screening potential BRCA1 and BRCA2 mutation carriers. Members of families known to be carriers of a mutation in either of these genes can be screened by PCR analysis and sequencing. To the individual, knowledge of whether a mutation is present will have significant impact upon their health care choices.
