Studies of human and animal genomes/epigenomes are becoming increasingly detailed, yet phenotyping remains surprisingly limited. It is critical that infant and adult human tasks at the neural and cognitive levels, and not merely at the behavioural levels, are aligned with those used to test genotype/phenotype correlations in animals. The doctoral candidate would be trained in infant/adult phenotyping, and in the development of new experimental tasks to be piloted on mouse models, human infants and adults. These would initially be standardized on typical participants and, once successful, would be extended to mouse/human models of neurodevelopmental syndromes such as Down syndrome.
Karmiloff-Smith, A. (1998). Development itself is the key to understanding developmental disorders. Trends in Cognitive Sciences, 2(10), 389-398.
Karmiloff-Smith, A., Grant J, Ewing S, Carette MJ, Metcalfe K, Donnai D, Read AP, Tassabehji M. (2003). Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome. Journal of Medical Genetics. 40(2), 136-140.
Karmiloff-Smith, A., D’Souza, D., Dekker, T.M., Van Herwegen, J., Xu, F., Rodic, M. & Ansari, D. (2012). Genetic and environmental vulnerabilities in children with neurodevelopmental disorders. PNAS, 109, 17261–17265.
O Doherty, A., Ruf, S., Mulligan, C., Hildreth, V., Errington, M.L., Cooke, S., Sesay, A., Modino, S., Vanes, L., Hernandez, D., Linehan, J.M., Sharpe, P.T., Brandner, S., Bliss, T.V.P., Henderson, D.J., Nizetic, D., Tybulewicz, V.L.J., Fisher, E.M.C. (2005) An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes. Science 309: 2033-2037.
Sheppard, O., Wiseman, FK, Ruparelia A, Tybulewicz VLJ, Fisher, EMC (2012) Mouse models of aneuploidy. TheScientificWorld Journal (Genes and Genomics): ID: 214078 PMID: 22262951