View stunning SlideShares in full-screen with the new iOS app!Introducing SlideShare for AndroidExplore all your favorite topics in the SlideShare appGet the SlideShare app to Save for Later — even offline
View stunning SlideShares in full-screen with the new Android app!View stunning SlideShares in full-screen with the new iOS app!
Joyoti Dey, MPH Advisor: Dr. James M. Olson Fred Hutchinson Cancer Research Center & University of Washington Graduate Program Investigating two Oncogenic Mutations in Smoothened with vastly different effects on Cerebellar Development
Assessment of Ataxia: “Footprinting” Assay No detectable Ataxia in SmoA2 mice SmoA2 Huntington’s Disease.
Human Cerebellar Dysplasias: Correlation with PNETs Figure: Jeffrey A. Golden & Brian N. Harding. (2004). Developmental Neuropathology Common in apparently normal infant brains Rorke et al (1968) showed histologically, clusters of mature neurons in white matter focal or perivascular GNPs, heterotaxias heterotopias Possible Cause : Inappropriate progenitor cell death and/or neuronal & glial migration Contributory Role in Medulloblastoma: Dysplasias might be targets for neoplastic transformation ( Yachnis et al.(1994), Jay V.(1996)
Bilateral, vertical, orientated folia Enlarged fourth ventricle. Human Cerebellar Dysplasias Right cerebellar hypertrophy & vertical folia Soto-Ares et al. Am J Neuroradiol (2000) Abnormal Arborization of White Matter Heterotopia Normal
SmoA2 & Human CBL Dysplasias: Shared Features Dysplasia & Contiguous Tumor Heterotopia & Heterotaxia Vertical Foliation SmoA2 Wildtype
Acknowledgements FHCRC Experimental Histopathology Core: Dr. Julie Randolph Habecker Dr. Sue Knoblaugh FHCRC Scientific Imaging Core: Dr. Julio Vasquez FHCRC Animal Health Resources Dr. Jon Cooper Tapscott Lab: Laurie Snider Vasioukhin Lab: Dr. Olga Klezovitch