12th SSBP International Research Symposium and the 2009 SSBP Educational Day Listening to genetic disorders: from molecules to management 14th – 16th October 2009, Cambridge, UK 14th – 16th October 2009, Cambridge Table of Contents Welcome .........................................................................................................................................................................................................................................! Scienti"c Committee ............................................................................................................................................................................................................# About Corpus .............................................................................................................................................................................................................................$ i About the Sponsors ............................................................................................................................................................................................................. % The Tuberous Sclerosis Alliance (TSAlliance) (www.tsalliance.org) ................................................................................................... % The ERS Charitable Foundation (www.emmory.com) ...............................................................................................................................& About the SSBP ........................................................................................................................................................................................................................ ' Previous Meetings of the SSBP ................................................................................................................................................................................ ' Forthcoming SSBP Meetings .....................................................................................................................................................................................( The SSBP Executive Committee ...............................................................................................................................................................................( About Tom Oppé and the Tom Oppé Distinguished Lecture ...............................................................................................................( A New Prize Lecture for #)!): The Patricia Howlin Prize Lecture...................................................................................................... * Keynote Speaker Pro"les ................................................................................................................................................................................................ + David N Franz ...................................................................................................................................................................................................................... + Rick Guidotti ........................................................................................................................................................................................................................ + Randi J Hagerman .........................................................................................................................................................................................................!) Helen (Honey) Heussler ..............................................................................................................................................................................................!) Anthony J Holland ..........................................................................................................................................................................................................!! Patricia Howlin ..................................................................................................................................................................................................................!! Ayla Humphrey .................................................................................................................................................................................................................!! Annette Karmilo!-Smith .............................................................................................................................................................................................!# Brendan Manning ...........................................................................................................................................................................................................!# Chris Oliver ..........................................................................................................................................................................................................................!# Pierre Roubertoux ...........................................................................................................................................................................................................!$ Mustafa Sahin ....................................................................................................................................................................................................................!$ Alcino Silva ..........................................................................................................................................................................................................................!$ The !#th SSBP International Research Symposium ....................................................................................................................................!& Programme .........................................................................................................................................................................................................................!& Day " (Wednesday "#th October $%%&) .............................................................................................................................................................!& Day $ (Thursday "'th October $%%&) ...................................................................................................................................................................!( 12th International SSBP Research Symposium Abstracts for Oral Presentations ..............................................................................................................................................................................!+ Talk ": Keynote: How the TSC-mTOR story has led to targeted interventions for genetic disorders...........................!+ Talk $: Dysfunction of protein synthesis mediated by mTOR-dependent signalling in Fragile X syndrome ........#) Talk (: Evolution of the TSC"/TSC$-TOR signalling pathway ..................................................................................................................#! Talk #: Deregulation of EIF#E in autism: is translation a therapeutic opportunity? ..............................................................## Talk ': Keynote: Neuronal connectivity in Tuberous Sclerosis Complex: translating from mouse to man .............#$ Talk ): Identi*cation of communal pathways in social memory and fear conditioning using mouse chromosome substitution strains .............................................................................................................................................................#% Talk +: Keynote: Mouse models for cognitive disorders in Trisomy $" ............................................................................................#& Talk ,: Deep Brain Stimulation (DBS) for self-injury and aggression in Lesch-Nyhan Disease .......................................#' Talk &: Deletions of neurexin-" predispose to a wide spectrum of developmental disorders .......................................#( Talk "%: The $%%& Tom Oppé Lecture: Reversing neurodevelopmental disorders in adults: from the lab ii to the clinic ...............................................................................................................................................................................................................#* Talk "": Keynote: Cognitive development in infants with TSC: an additive model of genetic, electrophysiological and anatomical abnormality ..........................................................................................................................#+ Talk "$: Assessing the motoric phenotype in neurodevelopmental disorders ........................................................................$) Talk "(: Age-related change in social behaviour in children with Angelman syndrome ....................................................$! Talk "#: Impaired and preserved sociability, social interaction skills and stranger discrimination in Cornelia de Lange, Angelman and Cri du Chat syndromes .......................................................................................................$# Talk "': Linking social cognition and executive functioning to phenotypic behaviours in Rubinstein Taybi syndrome ............................................................................................................................................................................$$