JR Family - searching for a genotype associated with a verbal memory phenotype in a multi-generational family

Contemporary methods in behavioural genetics such as linkage analysis and exome sequencing allow more sophisticated analysis of a genotype, and improve the potential to identify a relationship between genes and high-order cognition.

In the case of the JR Family, the tentative assumption of a pattern of monogenic inheritance that linked to a cluster of associated verbal memory difficulties within individuals from the same multi-generational family (the JR Family) deserved careful research attention. Drawing on the combined methodological expertise of Dr Kate Kucera and Prof Simon Fisher in the study of molecular genetics of human cognition and language, this project has two goals:

i) to use genome-wide linkage analysis to find associations between affected JR individuals and specific genomic regions that could potentially serve as candidate genes for the observed phenotype

ii) to use exome sequencing analysis, in combination with candidate genomic regions of interest, to identify potential allelic variants that potentially segregate with the affected JR individuals.