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This technology includes the identification and use of heterocyclic alcohol compounds, including RITA and N-BIC, for the treatment of SULT1A1-expression cancers. A high-throughput screen (qHTS) was performed using >1,000 caner cell lines identified a compound called YC-1 (also called Lificiguat) that is effective across cancer cell types that express the phase 2 detoxifying enzyme SULT1A1.

This technology includes a precise measurement assay of cellular FMRP levels in patients, which can assist in the diagnosis and assess the severity of Fragile X syndrome (FXS). FXS is an X-linked disorder that produces intellectual disability, cognitive impairment, epilepsy, depression and anxiety. FXS is caused by mutations in the Fragile X Mental Retardation-1 (FMR1) gene that result in the absence or a loss of function of its protein product, FMRP.

Isolated Methylmalonic Acidemia (MMA) comprises a relatively common and heterogeneous group of inborn errors of metabolism. Most affected individuals display severe multisystemic disease characterized by metabolic instability, chronic renal disease, and neurological complications. Patients with the cobalamin A (cblA) subtype of MMA can have variable presentations, spanning the full spectrum of MMA associated symptoms and pathology, yet always harbor an element of clinical and biochemical responsiveness to injectable vitamin B12.

Isolated Methylmalonic Acidemia (MMA) comprises a relatively common and heterogeneous group of inborn errors of metabolism. The most common cause of isolated MMA is genetic deficiency of the enzyme methylmalonyl-coA mutase (MUT), which, unfortunately for the affected patients, is also the most clinically severe. NHGRI scientist have invented a series of assays to assess hepatic MUT activity using a stable isotopic tracing assays to measure MUT function to assess corrective therapy on hepatic mitochondrial function.

Isolated Methylmalonic Acidemia (MMA) comprises a relatively common and heterogeneous group of inborn errors of metabolism. The most common cause of isolated MMA is genetic deficiency of the enzyme methylmalonyl-coA mutase (MUT), which, unfortunately for the affected patients, is also the most clinically severe. NHGRI scientist have discovered biomarkers previously described cytokines that has never been associated with MMA or propionic acidemia (PA) such as FGF-21 (fibroblast like-growth factor - 21).

This technology includes cell lines from patients with gangliosidosis diseases for the screening of potential therapeutics. Gangliosidosis contains different types of lipid storage disorders caused by the accumulation of lipids known as gangliosides. GM1 gangliosidosis is an ultra-rare lysosomal storage disorder caused by mutations in galactosidase beta 1 (GLB1) that result in a deficiency of beta-galactosidase. GM2 gangliosidoses are a group of autosomal recessive lysosomal storage disorders caused by accumulation of GM2 ganglioside due to the absence or near absence of B-hexosamindase.

This technology includes a group of radioligands that label inflammatory cells specifically, accurately, and across different genotypes and can be detected using Positron Emission Tomography (PET). The radioligands target the Translocator protein 18 kDa (TSPO) receptor which is present on the outer mitochondrial membrane and is involved in the production of steroids. Current TSPO radioligands either lack specificity or have highly variable inter-subject sensitivities due to TSPO genotypic differences.

This invention relates to a diagnostic kit for assessing exposure to or infection by a koala retrovirus. The kit consists of specific primers and probes for the detection of three distinct subtypes of infectious koala retrovirus and may be useful in various species, including humans, primates, and koalas.

This technology includes a group of radioligands that label inflammatory cells specifically, accurately, and across different genotypes and can be detected using Positron Emission Tomography (PET). The radioligands target the Translocator protein 18 kDa (TSPO) receptor which is present on the outer mitochondrial membrane and is involved in the production of steroids. Current TSPO radioligands either lack specificity or have highly variable inter-subject sensitivities due to TSPO genotypic differences.

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.