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Multiplexing Homocysteine in Primary Newborn Screening Assays Using Maleimides as Select Derivatization Agents
Homocystinuria (HCU), a group of inherited disorders, causes symptoms ranging from failure to thrive and developmental delays in infants or young children to abnormal blood clots with onset in adults.1 Approximately 1 in 200,000 to 335,000 people have HCU globally.2 Various clinical settings use the dried blood spot (DBS) for sample collection methods...
Published: 7/25/2024   |   Inventor(s): Charles Pickens, Konstantinos Petritis
Keywords(s): 4AXXXX, Agents, ASSAYS, Derivatization, Hcy, HOMOCYSTEINE, Maleimides, Multiplexing, Newborn, Primary, screening, SELECTIVE, VDXXXX, VPXXXX, WFXXXX, WHXXXX, WIXXXX, XCXXXX, XHXXXX, YAXXXX, YDXXXX, YFXXXX
Category(s): TherapeuticArea > Cardiology, TherapeuticArea > Infectious Disease, TherapeuticArea > Oncology, TherapeuticArea > Endocrinology, TherapeuticArea > Ophthalmology, Application > Consumer Products, TherapeuticArea > Dental, Application > Research Materials, ResearchProducts > Research Equipment, Application > Occupational Safety and Health, Application > Diagnostics
Radioligand for imaging brain PDE4 subtype D receptors with positron emission tomography
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...
Published: 7/25/2024   |   Inventor(s): Sanjay Telu, Robert Innis, Robert Nugent, Mark Gurney, Xuesheng Mo, Victor Pike
Keywords(s): brain, D, Emission, IMAGING, PDE4, Positron, Radioligand, RECEPTORS, Subtype, tomography, VEXXXX, VNXXXX, WBXXXX, WIXXXX, XCXXXX, XFXXXX
Category(s): Application > Diagnostics, Application > Research Materials, Application > Non-Medical Devices, TherapeuticArea > Neurology, TherapeuticArea > Psychiatry/Mental Health, Application > Medical Devices, Application > Software / Apps
Diagnosis and Treatment of Pediatric Acute Neurologic Syndrome with Antineuronal Antibodies
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...
Published: 7/25/2024   |   Inventor(s): Susan Swedo, Christine Kirvan, Madelein Cunningham
Keywords(s): ACUTE, antibodies, Antineuronal, Diagnosis, Listed LPM Greene as of 4/15/2015, Neurologic, pediatric, Post LPM Assignment Set 20150420, Pre LPM working set 20150418, Syndrome, treatment, VEXXXX, VNXXXX, WBXXXX, WIXXXX, XAXXXX, XCXXXX
Category(s): TherapeuticArea > Psychiatry/Mental Health, TherapeuticArea > Neurology, TherapeuticArea > Immunology, Application > Research Materials, Application > Diagnostics, ResearchProducts > Antibodies
Imaging Inflammation using PET Radioligands that Target Translocator Protein 18?kDa with High Affinity Regardless of Genotype
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...
Published: 7/25/2024   |   Inventor(s): Chad Brouwer, Victor Pike
Keywords(s): 18kDa, Emission, Genotype, Human, Listed LPM Fenn as of 4/15/2015, Positron, Post LPM Assignment Set 20150420, Pre LPM working set 20150418, Quantifying/imaging, Radioligands, Regardless, tomography, TSPO, VEXXXX, VNXXXX, WBXXXX, WIXXXX, XCXXXX, XFXXXX
Category(s): Application > Research Materials, Application > Diagnostics, TherapeuticArea > Neurology, Application > Medical Devices, Application > Non-Medical Devices, Application > Software / Apps, TherapeuticArea > Psychiatry/Mental Health
A Diagnostic Kit for Assessing Exposure or Infection by the Koala Family of Retroviruses
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. A family of infectious koala retroviruses are...
Published: 7/25/2024   |   Inventor(s): Wenqin Xu, William Switzer, HaoQiang Zheng, Maribeth Eiden
Keywords(s): ASSESSING, CA1AXX, DA4BXX, diagnostic, Exposure, FAMILY, Gammaretroviruses, Infection, KIT, Koala, Listed LPM Maddox as of 4/15/2015, Ofgammaretroviruses, Post LPM Assignment Set 20150420, Pre LPM working set 20150418, VCXXXX, VLXXXX, VOXXXX, WBXXXX, XCXXXX
Category(s): Application > Consumer Products, TherapeuticArea > Oncology, TherapeuticArea > Infectious Disease, Application > Diagnostics, Application > Research Materials
Imaging Inflammation using PET Radioligands that Target Translocator Protein 18?kDa with High Affinity Regardless of Genotype
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...
Published: 7/25/2024   |   Inventor(s): Robert Innis, Federico Da Settimo, Giorgio Stefancich, Sabrina Taliani, Sabrina Castellano, Claudia Martini, Yi Zhang, Victor Pike
Keywords(s): 18kDa, Emission, Genotype, Human, Listed LPM Fenn as of 4/15/2015, NA1XXX, Positron, Post LPM Assignment Set 20150420, Pre LPM working set 20150418, Quantifying/imaging, Radioligands, Regardless, tomography, TSPO, VEXXXX, VNXXXX, WBXXXX, WIXXXX, XCXXXX, XFXXXX
Category(s): TherapeuticArea > Psychiatry/Mental Health, Application > Non-Medical Devices, TherapeuticArea > Neurology, Application > Software / Apps, Application > Diagnostics, Application > Medical Devices, Application > Research Materials
Staphylococcus Epidermidis Isolates from Human Skin Samples for Use as Clinical Molecular Markers
This technology includes a catalog of commensal and pathogenic staphylococci from human skin for utilization as clinical molecular markers of skin conditions and infections. The study of microbial diversity of human skin in both healthy and disease states is important to develop tools to track infections, outbreaks, and multi-drug resistant organisms,...
Published: 7/30/2024   |   Inventor(s): Lilia Mijares, Heidi Kong, Julia ("Julie") Segre
Keywords(s): Epidermidis, Human, ISOLATES, SAMPLES, SKIN, Staphylococcus, VJXXXX, WBXXXX, WIXXXX, XCXXXX
Category(s): TherapeuticArea > Infectious Disease, Application > Diagnostics, Application > Research Materials
Human Fibroblast Cell Lines from Patients with Gangliosidosis Diseases for the Screening of Disease Therapeutics
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...
Published: 7/25/2024   |   Inventor(s): Elena-Raluca Nicoli, Cynthia Tifft
Keywords(s): Cell, DISEASES, Fibroblast, Gangllosldosls, Human, Lines, Patients, VEXXXX, VPXXXX, WBXXXX, WFXXXX, XCXXXX
Category(s): TherapeuticArea > Oncology, TherapeuticArea > Dental, Application > Consumer Products, TherapeuticArea > Infectious Disease, TherapeuticArea > Neurology, TherapeuticArea > Ophthalmology, Application > Diagnostics, TherapeuticArea > Endocrinology, TherapeuticArea > Cardiology, Application > Research Materials, Application > Occupational Safety and Health
Serum Protein Biomarkers that Predict the Response to Liver Directed Therapy in Methymalonic Acidemia (MMA) and Propionic Acidemia (PA)
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...
Published: 7/25/2024   |   Inventor(s): Eirini (Irini) Manoli, Charles Venditti
Keywords(s): Acidemia, Biomarkers, Directed, liver, Methymalonic, MMA, PREDICT, Protein, RESPONSE, SERUM, That, THERAPY, VPXXXX, WBXXXX, WIXXXX, XCXXXX, XEXXXX
Category(s): Application > Diagnostics, TherapeuticArea > Ophthalmology, Application > Research Materials, TherapeuticArea > Cardiology, TherapeuticArea > Oncology, TherapeuticArea > Dental, TherapeuticArea > Endocrinology, Application > Therapeutics, TherapeuticArea > Infectious Disease
Non-invasive Isotopic Biomarkers that Predict the Response to Liver Directed Therapy in Methymalonic Acidemia (MMA) and Propionic Acidemia (PA)
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...
Published: 7/25/2024   |   Inventor(s): Eirini (Irini) Manoli, Charles Venditti
Keywords(s): Acidemia, Biomarkers, Directed, ISOTOPIC, liver, Methymalonic, MMA, NON-INVASIVE, PREDICT, RESPONSE, That, THERAPY, VPXXXX, WFXXXX, WIXXXX, XCXXXX
Category(s): Application > Occupational Safety and Health, Application > Research Materials, Application > Diagnostics, TherapeuticArea > Dental, TherapeuticArea > Cardiology, TherapeuticArea > Infectious Disease, TherapeuticArea > Endocrinology, Application > Consumer Products, TherapeuticArea > Ophthalmology, TherapeuticArea > Oncology
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