35 results about "Fragile x" patented technology

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.

The invention provides improved methods for detecting the presence of expanded CGG repeats in the fragile X mental retardation 1 (FMR1) gene and for quantifying the amount of protein produced by the gene.

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.

The invention discloses a nonlinear networked control system non-fragile H-infinity fault tolerance control method. Firstly a closed-loop nonlinear networked control system model is established for considering the situation of parameter perturbation, time delay and packet loss of the nonlinear networked control system and random fault of an actuator, and then a Lyapunov function including packet loss information is constructed. The sufficient conditions of nonlinear networked control system stochastic stability and existence of an H-infinity fault tolerance controller are obtained by using the theory of Lyapunov stability and a linear matrix inequality analysis method. Solving is performed by using a Matlab LMI tool box, a non-fragile fault tolerance controller gain matrix K=YP<-1><011> is given, the conditions for optimization of the minimum disturbance suppression ratio gamma are given, and the optimized controller gain matrix K* under the minimum disturbance suppression ratio gamma<min> (the square root of e) is acquired. The situation of the random fault of the actuator is considered, and the probability of the random fault meets BerRoulli distribution so as to have more practical meaning.

The present invention relates to the field of diagnosis and therapy of hematological malignancies based on the tumor antigen FMR1NB (also called NY-SAR-35, Cancer/testis antigen 37 or Fragile X mental retardation 1 neighbor protein) and agents specifically targeting this antigen or cells expressing the same, e.g., antibodies. The inventors were able to prove that the molecule is expressed on the cell surface and thus represents a particularly advantageous target in cancer therapy and vaccination. Surprisingly, FMR1NB was found to be associated with hematological malignancies, e.g. acute myeloid leukemia (AML) or chronic myeloid leukemia (CML).

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 invention relates to a kit for detecting the fragile X syndrome in a clinical sample, in particular to a kit for screening the fragile X syndrome through the technology of hydrosulfite-modified long fragment polymerase chain reaction. The extended range of the kit can contain the fragile X syndromes of all the normal persons, patients with fragile X syndrome premutation and part of patients with fragile X syndrome full mutation. The kit is characterized by short analysis time, high flux and less required cells, and can be used to analyze the DNAs of father and mother and can also be used in the embryo preimplantation gender diagnosis.

The invention discloses a rapid detection kit for a fragile X syndrome. The rapid detection kit for the fragile X syndrome has the technical scheme of (1) designing an upstream primer and a downstream primer in a 5' untranslated region (a CGG repeat region) of an FMR-1 (Fragile X Mental Retardation-1) gene; (2) mixing the upstream primer, the downstream primer with high-fidelity enzyme, 10*PCR (Polymerase Chain Reaction) buffer and the like, and carrying out PCR amplification; (3) carrying out agarose electrophoresis on an amplification product, and judging the approximate copy number of CGG through judging the magnitude of fragments of the amplification product, thus judging whether a detector is a patient suffering from the fragile X syndrome or a carrier carrying the fragile X syndrome or not, wherein the fragments of the amplification product of a normal person are less than 300bp, and if the amplification product of which the fragments are greater than 700bp exists, the person is a pre-mutator or a complete mutator. In a detection method of the invention, the design difficulty of used primers is low, and the synthesis cost of the primers is reduced to a large extent; through a judgment result of an agarose electrophoresis method, the detection cost is further reduced, and the clinical practicability is greatly increased.

The present application provides adeno-associated viral vector-mediated gene therapy for treating Fragile X-associated disorders, including Fragile X Syndrome (FXS). In particular, there is provided a vector comprising an adeno-associated vims (AAV) genome or a derivative thereof and a nucleic acid sequence encoding a Fragile X Mental Retardation Protein (FMRP) isoform that lacks exon 12 and includes exon 14 of the full length FMRP gene, such as a human or a murine Group C FMRP isoform. Also provided are related pharmaceutical compositions comprising this vector, and methods and uses thereof for the treatment of Fragile X-associated disorders, including FXS.

A system and method for the detection and quantification of fragile X mental retardation protein (FMRP) in human tissue and blood samples. The system includes several high avidity monoclonal antibodies that may be provided on Xmap microspheres to capture FMRP from a tissue or blood specimen. The resulting complex is reacted with a polyclonal anti-FMRP rabbit antibody and then mixed with an anti-rabbit IgG antibody conjugated to phycoerythrin. Fluorescence emitted from the resulting complex is a function of the amount of FMRP present in the specimen.

Disclosed herein are novel methodologies of treating fragile X syndrome and related disorders by inhibiting mG1u₅-relevant signaling pathways via the reduction of β-arrestin2 protein levels or the diminution of mG1u₅ and β-arrestin2 protein interactions.

The present invention provides compositions and methods for treating cognitive, social, or behavioral disabilities, and neurodevelopmental disorders such as autism spectrum disorder (ASD) and other central nervous system disorders such as fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), chronic fatigue syndrome (CFS), and post-traumatic stress syndrome (PTSD). The present invention provides compositions and methods for the intranasal delivery (IN) of a therapeutically effective amount of an antipurinergic agent such as suramin for treating the disorder in a patient thereof.

Provided are methods for increasing the amount or activity of FMR1 RNA, and in certain instances of increasing the amount of FMRP protein, in an animal Such methods are useful to prevent or ameliorate at least one symptom of a Fragile X-Spectrum disorder. Such Fragile X-Spectrum disorders include FXS, FXTAS, and FXPOI.

The invention relates to a fragile X syndrome detection kit, which achieves the effects of high detection speed and high accuracy. According to the technical scheme, the fragile X syndrome detection kit is provided and comprises a primer group, PCR reaction liquid, Taq enzyme, a fragile X syndrome standard substance and a negative control sample; the primer group comprises a first primer pair for amplifying a region containing a CGG repeated region, a 5'flanking region and a 3 'flanking region, a first primer combination for amplifying the region containing the CGG repeated region and the 5' flanking region, and a second primer combination for amplifying the region containing the CGG repeated region and the 3 'flanking region. The kit disclosed by the invention is used for rapidly screening the CGG repetition number of the fragile X syndrome site FMR1 in a large sample size including male and female, and the method can be applied to fragile X genetic detection, prenatal diagnosis and pre-embryo implantation diagnosis. The kit has the advantages of rapidness, high throughput, small sample size, low price, simplicity in operation and easiness in use.

The invention relates to a kit for detecting the methylation of a promoter region of a fragile X mental retardation 1 (FMR1) gene through a fluorescent quantitative method. The kit comprises the following PCR (Polymerase Chain Reaction) primers and probes for detecting the methylation of the promoter region of the FMR1 gene, wherein basic groups designed aiming at methylation sites of the FMR1 gene are designed in the primers and the probes. Compared with a PCR capillary electrophoresis method, the fluorescent quantitative PCR method adopted by the kit performs the detection aiming at the FMR1gene methylation and is not limited by the large number of repetitions of (CGG)n, so that missed diagnosis is not easy to happen; and compared with an MS (Methylation Specific)-PCR method, the fluorescent quantitative PCR method has the advantages that the specificity aiming at the detection of the methylation sites is provided on the primers and the specificity aiming at the detection of the methylation sites is further increased on the probes.