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Univ. of Pennsylvania Penn's Neurobiology of Disease Curriculum

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NEURODEVELOPMENTAL DISORDERS - INSC 600-009/INSC 578 - 2008
Course meets Tuesdays beginning March 25, 2008 from 1:30 to 4:30 pm in the Barchi library (140 John Morgan Bldg.)

Lectures - Spring 2008

LECTURE VIDEOS: This year the videos of these lectures are not being made available outside of the University of Pennsylvania. Students in the course, or others with a Penn ID, can access the videos here.

Lecture Title Lecturer Date Papers Assigned
GENETICS OF HUMAN DISEASE AND ENDOPHENOTYPES Maja Bucan, PhD March 25, 2008

Reviews:
Bearden CE, Freimer NB. (2006) Endophenotypes for psychiatric disorders: ready for primetime? Trends Genet 22:306-13. Flint J, Munafo MR. (2007) The endophenotype concept in psychiatric genetics. Psychol Med 37:163-80.
Meyer-Lindenberg A, Weinberger DR. (2006) Intermediate phenotypes and genetic mechanisms of psychiatric disorders. Nat Rev Neurosci 7:818-27.
Primary papers to be discussed:
Abelson JF, Kwan KY, O'Roak BJ, Baek DY, Stillman AA, Morgan TM, Mathews CA, Pauls DL, Rasin MR, Gunel M, Davis NR, Ercan-Sencicek AG, Guez DH, Spertus JA, Leckman JF, Dure LS 4th, Kurlan R, Singer HS, Gilbert DL, Farhi A, Louvi A, Lifton RP, Sestan N, State MW (2005). Sequence variants in SLITRK1 are associated with Tourette's syndrome. Science 310:317-20.
Callicott JH, Straub RE, Pezawas L, Egan MF, Mattay VS, Hariri AR, Verchinski BA, Meyer-Lindenberg A, Balkissoon R, Kolachana B, Goldberg TE, Weinberger DR. (2005) Variation in DISC1 affects hippocampal structure and function and increases risk for schizophrenia. Proc Natl Acad Sci U S A. 102 :8627-32.

ZEBRAFISH AS A MODEL FOR DEVELOPMENT AND BEHAVIOR Michael Granato April 1, 2008

Reviews:
Patton, E. E., Zon, L.I. 2001. The art and design of genetic screens: Zebrafish. Nat. Rev. Genet. 2: 956-966.
Bate, M. 1999. Development of motor behavior. Curr. Opin. Neurobiol. 9: 670-675.
Primary papers to be discussed:
Darland, T. and Dowling, J. E. 2001. Behavioral screening for cocaine sensitivity in mutagenized zebrafish. Proc Natl Acad Sci U S A. 98: 11691-11696.
Burgess HA, Granato M. (2007) Sensorimotor gating in larval zebrafish. J Neurosci 27 :4984-94.

DROSOPHILA MODELS OF NEURODEGENERATIVE DISORDERS Nancy Bonini April 8, 2008

Reviews:
Bonini, N.M. and Fortini, M.E. (2003). Human neurodegenerative disease modeling using Drosophila. Annu Rev Neurosci. 26: 627-656.
Gatchel JR, Zoghbi HY. (2005) Diseases of unstable repeat expansion: mechanisms and common principles. Nat Rev Genet. 6:743-55.
Primary papers to be discussed:
Al-Ramahi I, Perez AM, Lim J, Zhang M, Sorensen R, de Haro M, Branco J, Pulst SM, Zoghbi HY, Botas J. (2007) dAtaxin-2 mediates expanded Ataxin-1-induced neurodegeneration in a Drosophila model of SCA1. PLoS Genet. 3: e234.
Lessing D and Bonini NM (2008) Polyglutamine genes interact to modulate the severity and progression of neurodegeneration in Drosophila. PLoS Biol (in press).

AUTISM AND ASPERGER SYNDROME Ted Brodkin April 15, 2008

Reviews:
Geschwind DH and Levitt P (2007) Autism spectrum disorders: developmental disconnection syndromes. Current Opinion in Neurobiology 17:103-111.
Gupta AR, State MW. (2007) Recent advances in the genetics of autism. Biol Psychiatry 61(4): 429-37.
Primary papers to be discussed:
Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, Chakravarti A, Tanzi RE, Stefansson K, Santangelo SL, Gusella JF, Sklar P, Wu BL, Daly MJ; the Autism Consortium.(2008) Association between Microdeletion and Microduplication at 16p11.2 and Autism. N Engl J Med (E-pub);
Jamain S, Quach H, Betancur C, Rastam M, Colineaux C, Gillberg IC, Soderstrom H, Giros B, Leboyer M, Gillberg C, Bourgeron T; Paris Autism Research International Sibpair Study.(2003) Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet. 34:27-9.
Tabuchi K et al (2007) A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice. Science 318:71-76.

MENTAL RETARDATION (WITH EMPHASIS ON FRAGILE X) Tom Jongens April 22, 2008

Reviews:
Jin P, Warren ST. (2003) New insights into fragile X syndrome: from molecules to neurobehaviors. Trends Biochem Sci. 28:152-8.
Primary papers to be discussed:
McBride SM, Choi CH, Wang Y, Liebelt D, Braunstein E, Ferreiro D, Sehgal A, Siwicki KK, Dockendorff TC, Nguyen HT, McDonald TV, Jongens TA. (2005) Pharmacological rescue of synaptic plasticity, courtship behavior, and mushroom body defects in a Drosophila model of fragile X syndrome. Neuron. 45:753-64.
Doelen G, Osterweil E, Shankaranarayana Rao BS, GB, Auerbach BD, Chattarji S and Bear MF (2007) Correction of Fragile X Syndrome in Mice. Neuron. 56:955-962.

NEURODEGENERATIVE DISORDERS Virginia Lee April 29, 2008 papers to be determined later
Class Party All! May 6, 2008