Baylor College of Medicine

University of Minnesota

Ionis Pharmaceuticals, Inc.

European Molecular Biology Laboratory

Vitruvean LLC

Huda Y Zoghbi

Hugo Bellen

Nessan Bermingham

Bassem Hassan

Harry T Orr

Nissim Ben-arie

Laura P Ranum

Ming-yi Chung

Susan M Freier

Luis Serrano

Juan Botas

Cayetano Gonzalez

Christian Boulin

Christopher J Cummings

Ezequiel Sztainberg

Nissim Ben-Arie

Ignatia B Van Den Veyver

Ruthie Amir

Uta Francke

Edward Faeldt

Emily A L Wozniak

Nessan Birmingham

Nissim Dept Of Cell And Animal Biology Ben-Arie

Disclosed herein are compounds and methods for decreasing MECP2 mRNA and protein expression. Such compounds and methods are useful to treat, prevent, or ameliorate MECP2 associated disorders and syndromes. Such MECP2 associated disorders include MECP2 duplication syndrome.

Compositions and methods for modulating MECP2 expression

A method for treating a subject having, or at risk of having, ataxia, generally includes administering to the subject an amount of a composition comprising a cholecystokinin receptor (Cck1R) agonist effective to ameliorate at least one symptom or clinical sign of ataxia.

Ataxia therapeutic compositions and methods

The present invention provides a method for screening for the effect of a test agent on a population of biological specimens, preferably insects, comprising the steps of providing a population of specimens, administering at least one test agent to the population, creating a digitized movie showing the movements of members of the population, measuring at least one trait of members of the population, and correlating the traits of the population with the effect of the test agent. The invention also provides a method for preparing a medicament useful for the treatment of a mammalian disease.

Method for identification of biologically active agents

Compositions and methods are disclosed for the therapeutic use of an atonal-associated nucleic acid or amino acid sequence. Also, an animal heterozygous for an atonal-associated gene inactivation is also disclosed having at least one atonal-associated nucleic acid sequence replaced by insertion of a heterologous nucleic acid sequence used to detect expression driven by an atonal-associated promoter sequence, wherein the inactivation of the atonal-associated nucleic acid sequence prevents expression of the atonal-associated gene.

Composition and methods for the therapeutic use of an atonal-associated sequence for deafness, osteoarthritis and abnormal cell proliferation

Compositions and methods for the therapeutic use of an atonal-associated sequence for deafness, osteoarthritis, and abnormal cell proliferation

The present invention relates to the identification of mutations in a gene encoding a methyl-CpG-binding domain containing protein or alterations in its corresponding protein in neurodevelopmental disease. The protein acts in a complex to regulate transcriptional repression through methylated CpG dinucleotides. Methods to screen mutations in said gene or alterations in said protein related to neurodevelopmental disease are provided. Methods to treat a vertebrate with said disease are also provided.

Method of screening Rett syndrome by detecting a mutation in MECP2

The present invention provides an isolated DNA molecule of the autosomal dominant spinocerebellar ataxia type 1 gene, which is located within the short arm of chromosome 6. This isolated DNA molecule is preferably located within a 3.36 kb EcoRI fragment, i.e., an EcoRI fragment containing about 3360 base pairs, of the SCA1 gene. The isolated sequences contain a CAG repeat region. The number of CAG trinucleotide repeats (n) is .ltoreq.36, preferably n=19-36, for normal individuals. For an affected individual n&gt;36, preferably n.gtoreq.43.

Gene sequence for spinocerebellar ataxia type 1 and method for diagnosis

The present invention provides an isolated DNA sequence of the short arm of chromosome 6 which is located within the autosomal dominant spinocerebellar ataxia type 1 gene. This isolated DNA sequence is preferably located within a 3.36 kb EcoRI fragment, i.e., an EcoRI fragment containing about 3360 base pairs, of the SCA1 gene. The isolated sequence preferably contains a CAG repeat region. The number of CAG trinucleotide repeats (n) is.ltoreq.36, preferably n=19-36, for normal individuals. For an affected individual n&gt;36, preferably n.gtoreq.43.

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Houston, TX, United States of America

Huda Y Zoghbi