'Mecp2' diaporamas de présentation

Rett syndrome: history

Rett syndrome: history. 1966: Described by Andreas Rett 1983: Described in English by Bengt Hagberg. Andreas Rett, MD 1924-1997. RETT SYNDROME IS A DEVELOPMENTAL DISORDER NOT degenerative. Worldwide average of 1:15,000 Female Births. Scotland: 1:15,000 Japan: 1:10,000 France: 1:18,000

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Rett syndrome: history

Rett syndrome: history. 1966: Described by Andreas Rett 1983: Described in English by Bengt Hagberg. Andreas Rett, MD 1924-1997. RETT SYNDROME IS A DEVELOPMENTAL DISORDER NOT degenerative. Worldwide average of 1:15,000 Female Births. Scotland: 1:15,000 Japan: 1:10,000 France: 1:18,000

897 views • 87 slides

RETT SYNDROME

RETT SYNDROME. UNDERSTANDING RETT SYNDROME AND THE ROLE OF MECP2 NEUROSCIENCE JANUARY 2009. OUTLINE. CLINICAL BACKGROUND MOLECULAR IMPLICATIONS PHENOTYPE-GENOTYPE RELATION ANIMAL MODELS THERAPY.

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Rett Syndrome Research The Sydney Experience

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Research Update SRSA Family Meeting Alan K. Percy, MD August 3 , 2013

Research Update SRSA Family Meeting Alan K. Percy, MD August 3 , 2013. Why rare diseases are important. True burden difficult to estimate Little general information available Absence of reliable or consistent data Difficult research funding Inadequate health service coverage

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James Eubanks Genetics and Development Division Department of Surgery

Translational Strategies For Rett Syndrome: From Experimental Mice To Treating Girls and Women. James Eubanks Genetics and Development Division Department of Surgery Toronto Western Research Institute Institute of Medical Sciences University Health Network University of Toronto

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BIOTECNOLOGIE FARMACOLOGICHE 2008/09 LEZIONE 2

CORSO DI LAUREA SPECIALISTICA IN BIOTECNOLOGIE DEL FARMACO Adriana Maggi. BIOTECNOLOGIE FARMACOLOGICHE 2008/09 LEZIONE 2. I PROCESSI DI METILAZIONE GIOCANO UN RUOLO NELLA PATOGENESI UMANA. methyl DNA binding protein 2 (MeCP2).

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Rett Syndrome

Rett Syndrome. Presented by: Ashley Owen University of Wisconsin-Eau Claire November 30, 2004. What is RTT?.

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Rett Syndrome

Rett Syndrome. Neurobiology of Disease. Rett Syndrome. 2nd most common genetic cause of Mental Retardation Early development normal ? loss of language, cognitive and motor abilities Single gene defect: Mecp2 KO (Jaenisch, Bird) recapitulates disease, as does forebrain neuron selective KO.

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Duplications of the MECP2 gene region and severe mental retardation in males

Duplications of the MECP2 gene region and severe mental retardation in males. All Wales Molecular Genetics Laboratory. Classical Rett syndrome. X-dominant condition (Originally thought to be) Lethal in hemizygous males MECP2 mutations in males

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DT Lioy et al. Nature 000 , 1-4 (2011) doi:10.1038/nature10214

MeCP2 is restored specifically in GFAP + astrocytes of TAM-treated Mecp2 Stop/y -hGFAPcreT2 mice. DT Lioy et al. Nature 000 , 1-4 (2011) doi:10.1038/nature10214.

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