Search Results - na2xxx

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Generation of Artificial Mutation Controls for Diagnostic Testing

This technology relates to a method of generating artificial compositions that can be used as positive controls in a genetic testing assay, such as a diagnostic assay for a particular genetic disease. Such controls can be used to confirm the presence or absence of a particular genetic mutation. The lack of easily accessible, validated mutant controls...

Published: 7/25/2024 | Inventor(s): Laurina Williams

Keywords(s): AA1XXX, AA5XXX, AA6XXX, AAXXXX, ARTIFICIAL, AXXXXX, CA1AXX, CA1CXX, CA1XXX, CAXXXX, controls, CXXXXX, diagnostic, GAXXXX, GCXXXX, GXXXXX, IA1BXX, IA2XXX, IA3XXX, IA5XXX, IAXXXX, IXXXXX, MUTATION, NA2XXX, OA2XXX, TESTING, VPXXXX, WBXXXX, WHXXXX, WIXXXX, WMXXXX, XBXXXX, XCXXXX, XEXXXX, YAXXXX, YBXXXX

Category(s): Collaboration Sought > Licensing, Application > Software / Apps, Application > Diagnostics, TherapeuticArea > Dermatology, TherapeuticArea > Immunology, TherapeuticArea > Pulmonology, Application > Research Materials, TherapeuticArea > Ophthalmology, TherapeuticArea > Dental, Application > Therapeutics, TherapeuticArea > Endocrinology, Application > Consumer Products, TherapeuticArea > Oncology, TherapeuticArea > Neurology, ResearchProducts > Computational models/software, TherapeuticArea > Cardiology, TherapeuticArea > Infectious Disease

Genes For Niemann-Pick Type C Disease

Niemann-Pick disease is a class of inherited lipid storage diseases. Niemann-Pick Type C disease is an autosomal recessive neurovisceral lipid storage disorder which leads to systemic and neurological abnormalities including ataxia, seizures, and loss of speech. Patients with the disease typically die as children. The biochemical hallmark of Niemann-Pick...

Published: 4/8/2024 | Inventor(s): Danilo Tagle, Melissa Ashlock, Peter Pentchev, Jill Morris, Stacie Loftus, Jessie Gu, Eugene Carstea

Keywords(s): C, Disease, Duke DNA Project, GAXXXX, GENES, GXXXXX, IA6XXX, IAXXXX, IXXXXX, NA2BXX, NA2XXX, NAXXXX, NIEMANN-PICK, Niemann-Pick disease, NXXXXX, Pick disease of the brain, Pick's disease, TYPE, UA1XXX

Category(s): Collaboration Sought > Collaboration, Collaboration Sought > Licensing, Application > Therapeutics, TherapeuticArea > Neurology, Application > Research Materials, Application > Diagnostics, TherapeuticArea > Rare / Neglected Diseases