184 results about "Down syndrome" patented technology

The present methods are exemplified by a process in which maternal blood containing fetal DNA is diluted to a nominal value of approximately 0.5 genome equivalent of DNA per reaction sample. Digital PCR is then be used to detect aneuploidy, such as the trisomy that causes Down Syndrome. Since aneuploidies do not present a mutational change in sequence, and are merely a change in the number of chromosomes, it has not been possible to detect them in a fetus without resorting to invasive techniques such as amniocentesis or chorionic villi sampling. Digital amplification allows the detection of aneuploidy using massively parallel amplification and detection methods, examining, e.g., 10,000 genome equivalents.

This technology relates generally to compounds and methods for stimulating neurogenesis (e.g., post-natal neurogenesis, including post-natal hippocampal and hypothalamic neurogenesis) and / or protecting neuronal cell from cell death. Various compounds are disclosed herein. In vivo activity tests suggest that these compounds may have therapeutic benefits in neuropsychiatric and / or neurodegenerative diseases such as schizophrenia, major depression, bipolar disorder, normal aging, epilepsy, traumatic brain injury, post-traumatic stress disorder, Parkinson's disease, Alzheimer's disease, Down syndrome, spinocerebellar ataxia, amyotrophic lateral sclerosis, Huntington's disease, stroke, radiation therapy, chronic stress, abuse of a neuro-active drug, retinal degeneration, spinal cord injury, peripheral nerve injury, physiological weight loss associated with various conditions, as well as cognitive decline associated with normal aging, chemotherapy, and the like.

The present methods are exemplified by a process in which maternal blood containing fetal DNA is diluted to a nominal value of approximately 0.5 genome equivalent of DNA per reaction sample. Digital PCR is then be used to detect aneuploidy, such as the trisomy that causes Down Syndrome. Since aneuploidies do not present a mutational change in sequence, and are merely a change in the number of chromosomes, it has not been possible to detect them in a fetus without resorting to invasive techniques such as amniocentesis or chorionic villi sampling. Digital amplification allows the detection of aneuploidy using massively parallel amplification and detection methods, examining, e.g., 10,000 genome equivalents.

An inhibitor of a glutaminyl peptide cyclotransferase, and use thereof for the treatment and / or prevention of a disease or disorder selected from the group consisting of inflammatory diseases selected froma. neurodegenerative diseases, e.g. mild cognitive impairment (MCI), Alzheimer's disease, neurodegeneration in Down Syndrome, Familial British Dementia, Familial Danish Dementia, multiple sclerosis,b. chronic and acute inflammations, e.g. rheumatoid arthritis, atherosclerosis, restenosis, pancreatitis,c. fibrosis, e.g. lung fibrosis, liver fibrosis, renal fibrosis,d. cancer, e.g. cancer / hemangioendothelioma proliferation, gastric carcinomas,e. metabolic diseases, e.g. hypertension,f. and other inflammatory diseases, e.g. neuropathic pain, graft rejection / graft failure / graft vasculopathy, HIV infections / AIDS, gestosis, tuberous sclerosis.Additionally disclosed are a respective diagnostic method, assay and kit.

This invention relates to novel thioflavin derivatives, methods of using the derivatives in, for example, in vivo imaging of patients having neuritic plaques, pharmaceutical compositions comprising the thioflavin derivatives and method of synthesizing the compounds. The compounds find particular use in the diagnosis and treatment of patients having diseases where accumulation of neuritic plaques are prevalent. The disease states or maladies include but are not limited to Alzheimer's disease, familial Alzheimer's disease, Down's Syndrome and homozygotes for the apolipoprotein E4 allele.

Computer modeling of interactions between and among cortico and subcortical areas of the human brain, for example in a normal and a pathological state resembling schizophrenia which pathological state has inputs representing the effects of a drug(s), for the purpose of using the outputs to predict the effect of drugs in psychiatric and cognitive diseases on one or more clinical scales. Diseases that can be modeled include psychiatric disorders, such as schizophrenia, bipolar disorder, major depression, ADHD, autism, obsessive-compulsive disorder, substance abuse and cognitive deficits therein and neurological disorders such as Alzheimer's disease, Mild Cognitive impairment, Parkinson's disease, stroke, vascular dementia, Huntington's disease, epilepsy and Down syndrome. The computer model preferably uses the biological state of interactions between and among cortico and subcortical areas of the human brain, to define the biological processes related to the biological state of the generic synapse model, the striatum, Locus Coeruleus, Dorsal raphe, hippocampus, amygdala and cortex, as well as certain mathematical relationships related to interactions among biological variables associated with the biological processes.

The present invention relates to novel inhibitors of prolyl endopeptidase of formula 1 W—KCONH—X—CON—Y—CO—Z   (1) wherein K, W, X, Y and Z are specified in the description. The compounds are useful for the treatment of diseases such as mild cognitive impairment (MCI), Alzheimer's disease, Down Syndrome, Parkinson disease and Chorea Huntington.

This technology relates generally to compounds and methods for stimulating neurogenesis (e.g., post-natal neurogenesis, including post-natal hippocampal and hypothalamic neurogenesis) and / or protecting neuronal cell from cell death. Various compounds are disclosed herein. In vivo activity tests suggest that these compounds may have therapeutic benefits in neuropsychiatric and / or neurodegenerative diseases such as schizophrenia, major depression, bipolar disorder, normal aging, epilepsy, traumatic brain injury, post-traumatic stress disorder, Parkinson's disease, Alzheimer's disease, Down syndrome, spinocerebellar ataxia, amyotrophic lateral sclerosis, Huntington's disease, stroke, radiation therapy, chronic stress, abuse of a neuro-active drug, retinal degeneration, spinal cord injury, peripheral nerve injury, physiological weight loss associated with various conditions, as well as cognitive decline associated with normal aging, chemotherapy, and the like.

The present invention is a method for effecting rapid improvement in cognition in subjects suffering from conditions or diseases related to the Aβ peptide, including Alzheimer's disease, Down's syndrome, cerebral amyloid angiopathy, mild cognitive impairment, and the like. The method comprises administering anti-Aβ antibodies to the subject, especially antibodies having a high affinity for soluble forms of Aβ. X-15240

The present invention relates to novel inhibitors of glutaminyl cyclase and combinations thereof for the treatment of neuronal disorders, especially Alzheimer's disease, Down Syndrome, Parkinson disease, Chorea Huntington, pathogenic psychotic conditions, schizophrenia, impaired food intake, sleep-wakefulness, impaired homeostatic regulation of energy metabolism, impaired autonomic function, impaired hormonal balance, impaired regulation, body fluids, hypertension, fever, sleep dysregulation, anorexia, anxiety related disorders including depression, seizures including epilepsy, drug withdrawal and alcoholism, neurodegenerative disorders including cognitive dysfunction and dementia.

This invention relates to novel thioflavin derivatives, methods of using the derivatives in, for example, in vivo imaging of patients having neuritic plaques, pharmaceutical compositions comprising the thioflavin derivatives and method of synthesizing the compounds. The compounds find particular use in the diagnosis and treatment of patients having diseases where accumulation of neuritic plaques are prevalent. The disease states or maladies include but are not limited to Alzheimer's Disease, familial Alzheimer's Disease, Down's Syndrome and homozygotes for the apolipoprotein E4 allele.

Computer modeling of interactions between and among cortico and subcortical areas of the human brain, for example in a normal and a pathological state resembling schizophrenia which pathological state has inputs representing the effects of a drug(s), for the purpose of using the outputs to predict the effect of drugs in psychiatric and cognitive diseases. A method is provided for developing a computer model of interactions between and among cortico and subcortical areas of the human brain which comprises the steps of identifying data relating to a biological state of a generic synapse model, the striatum, Locus Coeruleus, Dorsal raphe, hippocampus, amygdala and cortex; identifying biological processes related to the data, these identified biological processes defining at least one portion of the biological state of the generic synapse model, the striatum, Locus Coeruleus, Dorsal raphe, hippocampus, amygdala, and cortex; and combining the biological processes to form a simulation of the biological state of interactions between and among cortico and subcortical areas of the human brain. Diseases that can be modeled include psychiatric disorders, such as schizophrenia, bipolar disorder, major depression, ADHD, autism, obsessive-compulsive disorder, substance abuse and cognitive deficits therein and neurological disorders such as Alzheimer's disease, Mild Cognitive impairment, Parkinson's disease, stroke, vascular dementia, Huntington's disease, epilepsy and Down syndrome. A resulting computer model is of the biological state of interactions between and among cortico and subcortical areas of the human brain, comprising code to define the biological processes related to the biological state of the generic synapse model, the striatum, Locus Coeruleus, Dorsal raphe, hippocampus, amygdala and cortex, and code to define the mathematical relationships related to interactions among biological variables associated with the biological processes. At least two of the biological processes are associated with the mathematical relationships. A combination of the code to define the biological processes and the code to define the mathematical relationships define a simulation of the biological state of the interactions between and among cortico and subcortical areas of the human brain. Computer executable software code is provided comprised of code to define biological processes related to a biological state of interactions between and among cortico and subcortical areas of the human brain including code to define mathematical relations associated with the biological processes. A computer model of interactions between and among cortico and subcortical areas of the human brain is provided, comprising a computer-readable memory storing codes and a processor coupled to the computer-readable memory, the processor configured to execute the codes. The memory comprises code to define biological processes related to the biological state of interactions between and among cortico and subcortical areas of the human brain, and code to define mathematical relationships related to interactions among biological variables associated with the biological processes.

The present invention relates to a process for ameliorating or preventing diseases that are caused, in part, by an increased level of, and / or an abnormal responsivity to, interferon. Alzheimer's disease, HIV infection, Down syndrome, transplant rejection, autoimmune disease, and infant encephalitis are examples of such diseases. Specifically, the invention provides a method for treating subjects suffering from, or at risk for, such diseases by the administration of a pharmacological preparation of interferon binding proteins of mammalian and / or viral origin that antagonize interferon's action. This invention comprises compositions of interferon binding proteins that can inhibit the activity of interferon gamma plus interferon alpha such compositions along with their method of production and modification being described herein.

The present invention relates to novel compounds of formula (I) and their pharmaceutical compositions. In addition, the present invention relates to therapeutic methods for the treatment and / or prevention of Aβ-related pathologies such as Downs syndrome, β-amyloid angiopathy such as but not limited to cerebral amyloid angiopathy or hereditary cerebral hemorrhage, disorders associated with cognitive impairment such as but not limited to MCI (“mild cognitive impairment”), Alzheimer Disease, memory loss, attention deficit symptoms associated with Alzheimer disease, neurodegeneration associated with diseases such as Alzheimer disease or dementia including dementia of mixed vascular and degenerative origin, pre-senile dementia, senile dementia and dementia associated with Parkinson's disease, progressive supranuclear palsy or cortical basal degeneration.

This invention provides specifically substituted 1,2,4-thiadiazole derivatives for use in the treatment of an α-synucleopathy such as Parkinson's disease, diffuse Lewy body disease, traumatic brain injury, amyotrophic lateral sclerosis, Niemann-Pick disease, Hallervorden-Spatz syndrome, Down syndrome, neuroaxonal dystrophy, multiple system atrophy and Alzheimer's disease. This invention also provides various methods for producing such substituted 1,2,4-thiadiazole derivatives.

The present invention provides a VDAC regulator comprising a compound represented by the formula (I): wherein R1 is a halogen atom, an optionally substituted heterocyclic group, an optionally substituted hydroxy group, an optionally substituted thiol group or an optionally substituted amino group; A is an optionally substituted acyl group, an optionally substituted heterocyclic group, an optionally substituted hydroxy group or an optionally esterified or amidated carboxyl group; B is an optionally substituted aromatic group; X is an oxygen atom, a sulfur atom or an optionally substituted nitrogen atom; and Y is a divalent hydrocarbon group or heterocyclic group, a salt thereof or a prodrug thereof, which is useful as an agent for the prophylaxis or treatment of Down's syndrome and the like, and the like.

Abstract: The invention is based in part on the discovery that chromosomal disorders such as Down Syndrome can be diagnosed by assessing maternal mitochondrial status. Thus the invention relates to diagnostic and therapeutic methods and related products for chromosomal disorders such as Downs Syndrome, for example, for identifying a risk of fetal Downs syndrome and methods of mitigating that risk. The methods also re useful for other therapies where it is desirable to manipulate mitochondria such as tissue generation.

The invention provides a Down syndrome critical region 1-like 1 protein, its encoding cDNAs, and antibodies that specifically bind the protein. The invention also provides for the use of these compositions in the diagnosis, prognosis, treatment and evaluation of progression and treatment of neurodegenerative disorders.

Compounds of Formula (I), wherein R1, R2, R3, R4, R5, R6, T, W, X, Y and Z are as defined herein are provided, together with pharmaceutically acceptable salt, hydrates and / or prodrugs thereof. Methods of using these compounds for inhibiting beta amyloid production and for treatment of Alzheimer's Disease and Down's syndrome are described

Disclosed are compounds of the formula:wherein X, Q, W andare as defined herein. These compounds are agonists, antagonists or inverse agonists for GABAA brain receptors or prodrugs of agonists, antagonists or inverse agonists for GABAA brain receptors and are therefore useful in the diagnosis and treatment of anxiety, depression, Down Syndrome, sleep and seizure disorders, overdose with benzodiazepine drugs and for enhancement of memory. Pharmaceutical compositions, including packaged pharmaceutical compositions, are further provided. Compounds of the invention are also useful as probes for the localization of GABAA receptors in tissue samples.

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.

Eyeglass frames for people with Down syndrome, for others having facial characteristics similar to those with Down syndrome, and those with a depressed nasal bridge or a low nasal bridge, the eyeglass frames having a bridge lower than the normal higher placed bridge and in general alignment with the optical center of lenses mounted in the lens frames, extensions to widen the temple distance to accommodate the broader temples of people having Down syndrome or facial characteristics similar to those with Down syndrome, lower temples to maintain the general alignment of the location of the optical center with the pupils of the person wearing the eyeglass frames; and shorter temples than temples for normal caucasians to accommodate the ears as located on persons with normal facial features.

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.

A compound of Formula (I), or pharmaceutically acceptable salts and / or hydrates or prodrugs thereof, wherein Formula (I) has the structure:is provided, wherein R1-R7 are defined herein. These compounds are useful in medicaments for treating a disease selected from the group consisting of Alzheimer's Disease, amyloid angiopathy, cerebral amyloid angiopathy, systemic amyloidosis, hereditary cerebral hemorrhage with amyloidosis of the Dutch type, inclusion body myositis, mild cognitive impairment (MCI) and Down's syndrome, in a subject.

The invention discloses a separation and purification method for fetal nucleated red blood cells and a Down syndrome screening kit and belongs to the detection field of molecular cell biology. The separation and purification method comprises the following steps: firstly, fully mixing maternal peripheral blood and a CD45 antibody labeling magnetic bead to adsorb white blood cells; discarding on a magnetic separator, transferring upper-layer cells to a test tube containing a CD71 antibody labeling magnetic bead, and fully and uniformly mixing; separating on the magnetic separator to obtain nucleated red blood cells; extracting a genome DNA (Deoxyribonucleic Acid) of the nucleated red blood cells; adding SRY (Sexdetermining Region Y), DSCR (Down Syndrome Critical Region) and USC2 specific probes, DSCR and USC2 competitive primers, an SRY specific primer and a DNA to be detected into the same competitive fluorescent quantitation PCR (Polymerase Chain Reaction) reaction system for multiple competitive real-time fluorescence quantification PCR reactions to obtain Cts of DSCR and USC2; and calculating a difference value between the Cts to judge whether a sample to be detected is highly risk to DS (Down Syndrome).

The invention relates to a prenatal gene screening method for Down's syndrome by using nucleated erythrocyte and a kit thereof. The method is that a kit which comprises a nucleated erythrocyte purification reagent, primers and a bichrome Taqman fluorescent probe which are synthesized by the specific sequence DSCR section sequence of chromosome 21 and the GAPDH gene sequence on chromosome 16, and an amplification buffering action reagent of PCR action. The invention realizes that through the following steps: (a) the purification of fetus NRBC and the extraction of DNA; (b) the synthesis of the primers and the bichrome Taqman fluorescent probe respectively by using the specific sequence DSCR section sequence of chromosome 21 and the GAPDH gene sequence on chromosome 16; (c) the co-amplification of two pairs of the primers to obtain the curve of fluorescence quantitative PCR by the bichrome fluorescence quantitative PCR reaction in the amplification buffering reaction system. The invention has simple and convenient operation and high testing throughput, and belongs to a non-invasive prenatal diagnostic method.

The disclosure provides methods of treating cognitive disorders by administering a HMG CoA reductase inhibitor. Cognitive deficits treatable with the inhibitor compound include those associated with Angelman Syndrome, Neurofibromatosis-1, certain forms of X-linked mental retardation, tuberous sclerosis, Down Syndrome, autism, and attention deficit / hyperactivity disorder.

This invention relates to novel thioflavin derivatives, methods of using the derivatives in, for example, in vivo imaging of patients having neuritic plaques, pharmaceutical compositions comprising the thioflavin derivatives and method of synthesizing the compounds. The compounds find particular use in the diagnosis and treatment of patients having diseases where accumulation of neuritic plaques are prevalent. The disease states or maladies include but are not limited to Alzheimer's Disease, familial Alzheimer's Disease, Down's Syndrome and homozygotes for the apolipoprotein E4 allele.