99 results about "Fragile X chromosome" patented technology

Compositions, kits and methods are provided for treating or preventing neurological disorders associated with aberrant silencing of gene expression by reestablishing the gene expression through inhibition of DNA methylation and/or histone deacetylase. The compositions and methods include administering to a patient suffering from the neurological disorder a therapeutically effective amount of a DNA methylation inhibitor, such as decitabine, preferably in combination with an effective amount of a histone deacetylase inhibitor. The compositions, kits and methods can be used to treat or present neurological disorders such as Lou Gehrig's disease, fragile X syndrome, Parkinson's disease and Alzheimer's disease.

The invention discloses a method for establishing a fragile X-syndrome non-human primate model on the basis of a CRISPR gene knockout technology. The method comprises the following steps: (1) establishing a FMR1 gene knockout machin model; (2) carrying out identification and related functional analysis on the machin model; (3) carrying out tests on the nerve characteristics and learning and memorizing ability of the machin model. The method utilizes a CRISPR gene knockout technology to establish a fragile X-syndrome non-human primate model. The model fills the blank of non-human primate model, can effectively stimulate the pathological process of human diseases, can be used as an optimum animal model for researching human diseases, can effectively predict the effect of novel vaccine, novel drug or novel diagnostic reagent in clinical applications, and thus greatly reduces the risk of novel drug development.

Methods of increasing tonic inhibition in a subject in need thereof, for example a subject with Fragile X syndrome or Angelman syndrome are disclosed. Methods of treating secondary insomnia in a subject with a neurodegenerative disease or disorder are also disclosed. The methods can include administering the subject an effective amount of 4,5,6,7-tetrahydroisoxazolo(5,4-c)pyridin-3-ol (THIP) or a derivative thereof, or a pharmaceutically acceptable salt thereof, increase tonic inhibition in neurons of the subject; to increase slow wave sleep (SWS) and/or slow wave activity (SWA), normalize sleep architecture, reduce secondary insomnia, increase non-rapid eye movement (NREM) sleep, increase sleep continuity, enhance delta activity within NREM, increase or improve total sleep time (TST), increase or improve sleep efficiency, reduce total time awake (TAA), reduce number of awakenings (NWA), reduce latency to persistent sleep (LPS), or to reduce wake after sleep onset (WASO), in the subject, or any combination thereof.

mGluR5 antagonists are used for the treatment and prevention of disorders, including Fragile X, autism, mental retardation, schizophrenia and Down's Syndrome. The methods of the invention can be used to treat epilepsy and anxiety in a human having Fragile X syndrome, autism, mental retardation, schizophrenia and Down's Syndrome.

Provided herein are compositions and methods for treating a subject suffering from Fragile X syndrome, autism, Down's syndrome, mental retardation, or a neuropsychiatric condition (e.g., schizophrenia). The methods include systemic administration of a a therapeutically effective amount of a PAK inhibitor in combination with a Group I mGluR antagonist (e.g., an mGluR5 antagonist). The PAK inhibitor and mGluR antagonist can be administered together, e.g., in one pharmacological composition, or they can be administered separately.

This invention provides compounds, compositions and methods for treating Autism Spectrum Disorders (ASD) using glycyl-2-methylprolyl-glutamic acid (G-2-MePE) and analogs thereof. Autism Spectrum Disorders include Autism, Autistic Disorder, Asperger Syndrome, Childhood Disintegrative Disorder, Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS), Fragile X Syndrome, and Rett Syndrome. Compositions containing compounds include water-soluble formulations, water-in-oil micro-emulsions, water-in-oil coarse emulsions, water-in-oil liquid crystals, nanocapsules, tablets, and orally administered gels. The compounds and compositions of this invention can be administered intravenously, intraventricularly, parenterally, or orally, and can be effective in treating neurodegeneration, promoting neurological function, treating seizure activity and other symptoms of ASD, and can prolong life in animals including human beings having Autism Spectrum Disorders.

The invention provides a clinic rapid PCR detection kit of a fragile X syndrome. The kit comprises DNA polymerase, dNTPs, a primer group and a buffer system. The kit is used for detecting the copy number of the FMR-1(CGG)n fragment of the virulence gene of the fragile X syndrome, so the content range of the copy number can be deducted, and the carriers and patients of the virulence gene can be fast found; and the kit can be used in antenatal diagnosis and infant patient birth prevention in order to reduce the incidence of the fragile X syndrome.

Compositions and methods for identifying and/or modulating RNA transcripts and/or genes involved in fragile X syndrome and other associated disorders are provided. In particular, RNA targets for fragile X mental retardation protein (FMRP) have been identified by a novel monoclonal antibody to FMRP and a consensus sequence for the RNA binding region has been identified. Arrays for identifying compounds, proteins, nucleotides, and the like that modulate the RNA targets or associated genes are provided. Additionally, methods for modulating RNA targets are provided.

The present invention includes a rapid, selective, and accurate method of diagnosing a human subject with a triplet repeat genetic disorder of the FMR1 gene that leads to fragile X syndrome. The present invention also includes a rapid, selective, and accurate method of diagnosing a human subject at risk for developing a triplet repeat genetic disorder of the FMR1 gene that leads to fragile X syndrome, or at risk of passing such a disorder on to their progeny.

The disclosure relates to methods and compositions for reactivating a silenced FMR1 gene. In some aspects, methods described by the disclosure are useful for treating a FMR1-inactivation-associated disorder (e.g., fragile X syndrome).

The invention provides a PCR kit used for detecting the CGC replication number and AGG insert information of fragile X syndrome. The PCR kit comprises a DNA polymerase emboitement, a PCR reinforcing agent, a primer group and a correction Marker; and the primer group comprises primers F and R used for detecting the CGG replication number, and detection primers M1 and R1 and verification primers M2 and F1 used for detecting the AGG insert information. The kit can accurately and rapidly analyze the CGC replication number and the AGG insert information of a sample, can breakthrough the problems of high sequencing difficulty, long time and high cost of present fragile X syndrome detection methods adopting a fluorescence probe, MLPA and Southern Blot, and can directly analyze the range of the CGC replication number and the AGG insert information according to a gel electrophoresis result in order to rapidly diagnose the characteristics of the sample; and the product resolution can be obtained by separating products through a high-resolution device, and the CGC replication number and the AGG insert information are obtained through a mathematic model.

The invention discloses 2-isatin derivatives, the preparation method and the application. The structure of the invention is shown as the formula (I), wherein, the definitions of R<1>, R<2>, R<3>, R<4>, R<5>, X, Ar and n are shown in the description of instruction. The compound is provided with the restraining activity against histone deacetylase so as to treat the diseases relevant to the abnormal condition of the histone deacetylase, including Rubinstein-Taybi II-syndrome, fragile x syndrome, leukemia, cancer, immunological diseases, cardiac hypertrophy, bone diseases, nervous system diseases and neurodegenerative diseases.