This document provides methods and materials related to genetic variations of developmental disorders.

For example, this document provides methods for using such genetic variations to assess susceptibility of developing Autism Spectrum Disorder.

Provided is a method for diagnosing a subject having or at risk of having mild cognitive impairment (MCI), including stimulating T cells in a biological sample obtained from the subject with an amyloid β peptide or a fragment thereof and evaluating a magnitude of a T cell response toward the amyloid β peptide or the fragment thereof. Also provided is a kit for diagnosing MCI by using the method.

The invention provides methods of detecting alpha-synuclein using a capture antibody and a reporter antibody. The capture antibody binds preferentially to full-length alpha-synuclein phosphorylated at residue 129 (PS129 alpha-synuclein) over unphosphorylated full-length alpha-synuclein. The 11A5 antibody is an example of a suitable capture antibody. The reporter antibody binds to an epitope within residues 40-55 of alpha-synuclein. The 23E8 antibody is an example of such an antibody. Because only a small proportion of alpha-synuclein is phosphorylated high sensitivity of detection below picomolar is advantageous.

Subject matter of the present invention is a method for diagnosing dementia, or determining the risk of getting dementia in a subject that does not have dementia, or monitoring therapy or monitoring or guiding intervention in a subject that has dementia, or monitoring therapy or monitoring or guiding preventive intervention in a subject that is at risk of getting dementia.

This disclosure relates to methods of determining the amount of post translational modification (PTM) associated with one or more tau peptide fragments of a tau protein in a sample, and methods of evaluating a subject for having a tauopathy, the methods comprising, in part, determining the amount of post translational modification (PTM) associated with one or more tau peptide fragments of a tau protein in a sample, and comparing the amount of the tau PTMs associated with one or more tau peptide fragments with one or more reference levels for the tau peptide fragments, thereby determining whether a subject has a tauopathy.

The present invention relates to methods of detecting a neural injury biomarker in a biological sample. The method includes subjecting a biological sample to an assay according to the present invention that produces a measurable signal and detecting the measurable signal. The presence or absence of the measurable signal indicates the presence or absence of the biomarker in the sample. The present invention also relates to methods of determining the state of a subject's neural injury. The present invention also relates to systems and devices useful in carrying out the methods of the present invention.

The present invention relates to compositions and methods for promoting the degradation of misfolded proteins and protein aggregates. The compositions and methods may be used to treat a disorder associated with misfolded proteins or protein aggregates. In certain instances, the compositions and methods relate to modulators of one or more TRIM proteins or one or more STUbLs.

This invention provides a method for detecting cognitive disfunction diseases including mild cognitive impairment and Alzheimer's disease using a protein and a peptide of the protein different in the presence level in subjects having a normal cognitive function and patients suffering from cognitive disfunction diseases and a biomarker for detecting cognitive disfunction diseases including mild cognitive impairment and Alzheimer's disease containing the protein and the peptide. This invention is a biomarker for diagnosing cognitive disfunction diseases containing a prothrombin precursor protein of SEQ ID NO: 1 or a peptide THRB containing the amino acid sequence represented by SEQ ID NO: 2 which is a peptide of the protein, a diagnosis method for cognitive disfunction diseases using the biomarker, an antigen peptide represented by SEQ ID NO: 3 for creating a THRB peptide specific antibody to be used in the diagnosis method, and a cognitive disfunction disease diagnosis kit containing the THRB peptide specific antibody.

Methods and systems directed to monitoring for the presence or progression of amyloid diseases via detection of amyloid fibrils in a sample from an individual are disclosed. An individual, or sample from an individual, is treated with a reagent including a fluorescent protein. The fluorescent protein in the reagent binds to amyloid fibrils present in the sample. Detecting a signal from fluorescent protein bound to the treated sample indicates the presence of amyloid fibrils in the sample and possible diagnosis of an amyloid disease. The presence and progression of an amyloid disease is monitored by quantifying signal intensity from samples taken over time. Treatment with a reagent including a fluorescent protein inhibits amyloid fibril formation by providing the reagent to an environment including amyloid monomers. The fluorescent protein binds to amyloid oligomers during the lag phase and/or elongation phase of amyloid fibril formation, preventing formation of mature amyloid fibrils.

The invention utilizes virtual screening strategy to seek for current market drugs as anti-schizophrenia therapy drug repurposing. Drug repurposing strategy finds new uses other than the original medical indications of existing drugs. Finding new indications for such drugs will benefit patients who are in needs for a potential new therapy sooner since known drugs are usually with acceptable safety and pharmacokinetic profiles. In this study, repurposing marketed drugs for DAAO inhibitor as new schizophrenia therapy was performed with virtual screening on marketed drugs and its metabolites. The identified and available drugs and compounds were further confirmed with in vitro DAAO enzymatic inhibitory assay.