— Technology Description
Dr. Fumihiko Urano at Washington University in St. Louis (WUSTL) and colleagues have developed therapeutic strategies to treat Wolfram syndrome. Wolfram syndrome is a rare, life-threating, genetic disorder characterized by insulin-dependent diabetes mellitus, diabetes insipi…
— Background: In the US alone, 154,000 new cases of colorectal cancer (CRC) are diagnosed each year. Unfortunately, a third of those patients will die due to diagnosis at late stages – the 5-year survival rate is 11%, compared to 91% for those who are diagnosed with only localized CRC. A colonos…
— Background
Niemann-Pick type C is a rare, progressive neurodegenerative disease characterized by accumulation of cholesterol and other lipids in the viscera and central nervous system. For cases caused by mutations in the NPC1 or NPC2 gene, egress of lipids from endosomes or lysosomes are impaired, resulting in clinical symptoms such as abnormal eye movements, hearing loss, cerebellar ataxia, difficulty swallowing, and cognitive impairment. However, patients with Neimann-Pick disease have highly variable clinical presentation and symptom progression, making diagnosis challenging.
Technology Summary
A panel of oxygenated forms of cholesterol (oxysterols) in plasma that can be used as a diagnostic test for Neimann-Pick type C1 disease. The mass spectrometry-based panel is able to discriminate between subjects with NPC1 and normal control subjects. The oxysterol biomarkers have clinical utility in newborn screening for early diagnosis of NP1C disease, as markers for disease severity, and as biomarkers to aid in evaluation of new therapies for NPC1.
Key Advantages
High sensitivity
Rapid diagnostic for screening infants
Patents
US 8,497,122 Issued
US 9,012,216 Issued
Publications
Porter et al., 2010 – Cholesterol oxidation products are sensitive and specific blood-based biomarkers for NPC1 disease.
— Compounds with high affinity for aggregated alpha-synuclein, after radiolabeling with C-11 or F-18, 1- 125, 1-123 and Br-76, could be used as PET tracers to measure the level and distribution of aggregated alpha-synuclein in patients with Parkinson’s disease and related diseases such as DLB…
— Technology Description
Researchers in Prof. Audrey Odom John’s laboratory have discovered a malaria “breathprint” that could be used for blood-free, rapid, field-stable, point-of-care testing and monitoring. In addition, certain molecules identified by the inventors could attract…
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