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Autism Research

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Alumni: Sophia Koukoui

MSc candidate

McGill University

Supervisor: Avi Chaudhuri

Research Project: Neurobiological correlates of fragile X syndrome

Fragile X syndrome is the leading cause of mental retardation and developmental delay. In over 98% of cases, this syndrome is due to the reduced expression of the fmr-1 gene product, FMRP (Fragile X Associated Mental Retardation Protein). I have performed a quantitative analysis of FMRP expression in the monkey brain, using FMRP immunostained sections. This work has enabled me to establish the expression profile of FMRP throughout the monkey brain. I am now working on determining the neuronal subtypes that express high levels of FMRP, by focusing specifically on the recently established foci of high FMRP expression.

Publications

  1. Koukoui S, Chaudhuri A, Neuroanatomical, molecular genetic, and behavioral correlates of fragile X syndrome. Brain Research Reviews, in press

Presentations

  1. Fragile X Syndrome, invited expert guest speaker to chair a session on fragile X syndrome at a Genes and Behavior seminar- McGill Faculty of Medicine, Department of Pharmacology and Therapeutics, January 2007.
  2. Quantitative analysis of FMRP expression throughout the monkey brain, poster presentation, Society for Neuroscience 2006.
  3. Le syndrome FXTAS, presentation at the Club des Mouvements Anormaux du Québec annual meeting, Continuing Medical Education, May 2006.
  4. Le syndrome FXTAS: de la prémutation aux troubles moteurs, Congrès Acfas, March 2006.

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