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The invention is a panel of five tests of patient sera for immune responses that may attack the brain and lead to the characteristic symptoms of pediatric acute neurologic syndrome (PANS). PANS is a condition defined by a sudden onset of obsessive-compulsive symptoms, eating restrictions, and other cognitive and/or behavioral symptoms. Currently, the diagnosis of PANS is made when other possible symptoms are ruled out, a diagnosis of exclusion.

The invention relates to rabbit antisera raised against purified human chymotrypsin and amylase. Both chymotrypsin and amylase are produced by the pancreas and play important roles in digestion. Abnormal levels of chymotrypsin and amylase have been known to occur with multiple pancreas-related disorders, including pancreatitis. Measuring levels of these two enzymes using these polyclonal antibodies can help determine if a pancreas is functioning correctly.

The technology relates to the first radioligands that can be used to image and quantify the enzyme phosphodiesterase subtype D (PDE4D). The PDE4D proteins have a role in carrying out signal transduction pathways in several cell types and is thought to be the key target of various antidepressants. Current work with imaging the radioligands in monkey brains using positron emission tomography (PET) has been successful, and further work with humans is needed.

This invention relates to methods and algorithms that incorporate information from multiple imaging modalities to identify, estimate the size, and track the time course of brain lesions. Subjects develop brain lesions over the natural course of a disease. Currently, lesions are measured and tracked by a trained neuroradiologist using slice-by-slice inspection, a slow process that is prone to human error and hard to generalize to large observational studies.

This technology includes a cell line that stably expresses YFP-Parkin and mt-mKeima that can be used to study mitochondrial degradation, mitophagy, using flow cytometry (FACS). Compromised mitophagy is implicated in Parkinson disease. The effects of any compounds or genetic alteration on Parkin-mediated mitophagy can be monitored.

This technology is an improvement on the ability to visualize cortical lesions in neurological diseases that cause focal tissue damage to the cortex, including multiple sclerosis (MS). Two approaches are used. The first approach includes optimization of routinely available diffusion-weighted sequences to maximize resolution and contrast, both of which are required to differentiate small cortical lesions from normal-appearing cortex.

The invention relates to a plasmid that enables gene knowndown (via CRISPRi) in human induced pluripotent stem cells (iPSCs), including derived cell types such as neurons. The plasmid contains homology arms to direct insertion of a cassette into the CLYBL safe-harbor locus in the human genome. The cassette expresses CRISPRi machinery using a CAG promoter. The CRISPRi machinery consists of double degron-tagged dCas9-BFP-KRAB. Addition of the small molecule trimethoprim to cell culture media stabilizes the degron and thereby increases dCas9-BFPKRAB levels, enabling CRISPRi activity.

The technology relates to the identification and validation of eight biomarkers for active central nervous system (CNS) intrathecal inflammation. The management of neuroimmunological diseases is severely hindered by an inability to reliably measure intrathecal inflammation. Current laboratory tests, that were developed over 40 years ago, do not capture low to moderate levels of CNS inflammation and provide limited information about its phenotype.

This technology includes the creation and use of a polyclonal antibody for Neuroligin-4, NLGN4, that was created by injecting a peptide surrounding the pT707 phosphorylation site into rabbits and affinity purifying the resulting serum. Neuroligin-4 is a member of the neuroligin family of cell adhesion proteins. This family has been shown to play a role in the maturation and function of the neuronal synapse and has been implicated in patients with autism and intellectual disability.

This invention includes the identification of a new mutation in the collagen type VI (COL6A1) gene, including a method for diagnosing and treating patients with this mutation. Collagen type VI-related dystrophies (COL6-RD) are devastating neuromuscular disorders that manifest with progressive generalized muscle weakness, contractures, and respiratory failure. Currently, no cure exists for COL6-RD.