— Technology Description
Researchers at Washington University have developed and validated a set of bile acid biomarkers to screen, diagnose, and monitor the progression of Niemann-Pick disease type C (NPC), a genetic lysosomal storage disorder resulting from a defect in lipid transport. Previous ef…
— Technology Description
A team of researchers has developed a high throughput, FDA-compliant assay to predict coronary heart disease and mortality in the general population 6-10 years before the onset of disease. This fully validated two-dimensional liquid chromatography-tandem mass spectrometry (L…
— Mouse model for Niemann-Pick C1 (NPC1) disease
This mouse model was generated by CRISPR KI of the P1007A mutation into the NPC1 protein. Mice heterozygous or homozygous for this mutation do not have an apparent phenotype. However, when the heterozgous P1007A mouse is crossed with the NPC1 I1061T m…
— Gadd7 haploinsufficient mutant CHO cell line
Inventors generated a mutant Chinese Hamster Ovary (CHO) cell line with disruption of one allele encoding Gadd7, a non-coding RNA. CHO cells were transduced with retrovirus at a low multiplicity of infection and mutants were isolated. Number of retrovira…
— Notes: Mouse model with the mutation for NPC knocked in.
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.
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.
Rapid diagnostic for screening infants
US 8,497,122 Issued
US 9,012,216 Issued
Porter et al., 2010 – Cholesterol oxidation products are sensitive and specific blood-based biomarkers for NPC1 disease.