The invention describes a method of diagnosing an individual as having an increased likelihood of having an autism spectrum disorder and in some instances, selecting a therapy. The invention is related to a system or a kit for performing such a method.

Novel gene deletions and translocations involving chromosome 2 resulting in fusion proteins combining part of Anaplastic Lymphoma Kinase (ALK) kinase with part of a secondary protein have been identified herein in human solid tumors, e.g. non-small cell lung carcinoma (NSCLC). Secondary proteins include Echinoderm Microtubule-Associated Protein-Like 4 (EML-4) and TRK-Fusion Gene (TFG). The EML4-ALK fusion protein, which retains ALK tyrosine kinase activity, was confirmed to drive the proliferation and survival of NSCLC characterized by this mutation. The invention therefore provides, in part, isolated polynucleotides and vectors encoding the disclosed mutant ALK kinase polypeptides, probes for detecting it, isolated mutant polypeptides, recombinant polypeptides, and reagents for detecting the fusion and truncated polypeptides. The disclosed identification of this new fusion protein enables methods for screening for compounds that inhibit the proteins, and methods for inhibiting the progression of a cancer characterized by the mutant polynucleotides or polypeptides.

The present invention discloses a method for diagnosing cancer comprising a step of detecting active protein kinase Cα in urine.

The invention relates to inhibitors of CDK12 (cyclin-dependent kinase 12), and there use in the treatment or prevention of a disorder in a subject caused by the generation of repeat expansion transcripts.

In one embodiment, an object of the present invention is to provide a biomarker for predicting the prognosis of a cancer patient such as a breast cancer patient. In one embodiment, the present invention relates to use of a CK2α protein or a fragment thereof in a nucleolus as a marker for predicting the prognosis of a cancer patient, a method for predicting the prognosis of a cancer patient using the marker, or a kit comprising a reagent for measuring the marker.

In one aspect, the invention is directed to a method of detecting Cowden syndrome (CS) or CS-like syndrome in an individual comprising detecting the presence of a mutated succinate dehydrogenase B (SDHB), mutated succinate dehydrogenase D (SDHD) or combination thereof in the individual, wherein detection of a mutated SDHB, SDHD or a combination thereof indicates that the individual is positive for CS or CS-like syndrome. In another aspect, the invention is directed to a method of determining whether an individual is at risk for developing Cowden syndrome (CS) or CS-like syndrome comprising detecting the presence of a mutated succinate dehydrogenase B (SDHB), mutated succinate dehydrogenase D (SDHD) or combination thereof in the individual, wherein detection of a mutated SDHB, SDHD or a combination thereof indicates that the individual is at risk for developing for CS or CS-like syndrome. In yet another aspect, the invention is directed to an article of manufacture for detecting Cowden syndrome (CS) or Cowden-like syndrome in an individual, comprising one or more agents that detects mutated succinate dehydrogenase B (SDHB), mutated succinate dehydrogenase D (SDHD) or combination thereof in the individual, and instructions for use.

The present disclosure relates to antibody molecules that bind specifically to C-MET and related nucleic acid molecules, vectors and host cells. Also provided are medical uses of such antibody molecules. The claimed anti C-Met antibodies of the present application have been selected by in silico engineering. Some of the antibodies have been generated and further characterized after expression in mammalian expression system.

The present invention relates to a method for aiding in the prediction of stroke and/or dementia in a subject, said method comprising a) determining the amount of the biomarker RET (Rearranged during transfection) in a sample from the subject, b) comparing the amount determined in step a) to a reference, and c) aiding in the prediction of stroke and/or dementia. The present invention further relates to a method for aiding in the assessment of the extent of white matter lesions in a subject, a method for aiding in the assessment whether a subject has experienced one or more silent strokes and to a method for aiding in the diagnosis of atrial fibrillation in a subject. Further encompassed by the present invention are the corresponding uses.

The present invention provides a highly sensitive in vitro method for diagnosing injury to the central nervous system (CNS), such as a traumatic brain injury (TBI) or stroke. The method involves contacting a sample of blood from a subject suspected of suffering a CNS injury event with at least one antibody capable of detecting a proteolytic fragment of the biomarker Protein Kinase C, gamma isoform (PKCg or PKCγ), which fragment corresponds to a proteolytic fragment of PKCg formed in the excitotoxic environment resulting from neuronal damage. Also disclosed are novel anti-PKCg antibodies useful in the diagnostic methods of the invention to provide diagnosis of CNS injury with essentially 100% accuracy.

A system for the electrochemical detection of triglyceride levels includes a test strip including an electrode and a counter electrode, the electrode and counter electrode located proximate to a sample reception area; and a coating on one of the electrode and counter electrode, the coating including a reagent coating for triglycerides.