WHO:	Annette Karmiloff-Smith , Institute of Cognitive Neuorscience:University College of London
TOPIC:	Genotype/phenotype relations: why a cognitive developmental perspectiveis essential
ABSTRACT:	I will discuss five approaches to genotype/phenotype relations, showing how such mapping is not straight-forward even in a genetic disorder where the deleted genes and the pattern of behavioral impairments have already been identified. The case of William s syndrome (WS) serves as a model. Genotype/phenotype relations will be explored with respect to computational modelling, mouse models, older children and adults with WS, compared to non-WS individuals with similar but smaller deletions on chromosome 7q1 1.23, and the infant phenotype. I shall ask what we mean by "scores within the normal range" and argue that it is at the level of underlying cognitive processes, and not behavioral outcomes, that genotype/phenotype relations must be explored. Our studies indicate that the patterns found in the phenotypic outcome of two syndromes (Williams and Down) do not allow the researcher simply to assume that the same patterns obtain in infancy. These same arguments hold even for syndromes with a single gene mutatio n such as FragileX syndrome. Thus, if we are ultimately to map genotype to cognitive phenotype, consideration of the infant start state, the entire developmental trajectory and the underlying cognitive processes is essential. ›››
WHEN:	4/14/2003 12:00:00 PM
WHERE:	Meliora 269

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