Summaries by Inventor Ory, Daniel

Niemann-Pick C1 P1007A mouse model
Ory, Daniel
T-018918

— 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…

Plasma oxysterols as biomarkers for Niemann-Pick C disease
Ory, Daniel
T-007594

— 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.

Sensitive and Accurate Mass Spec-based assay for simultaneous quantification of glycosylsphingosine and galactosylsphingosine
Jiang, Xuntian ; Ory, Daniel
T-016077

— Background Gaucher and Krabbe disease are two types of lipid (fat) storage diseases that can result in progressive damage to the nervous system and other organ systems. Together, these diseases affect about 450,000 people worldwide. In both of these diseases, there is an undesirable accumulation of…

Niemann Pick Type C (NPC) Mouse Model
Ory, Daniel
T-012764

— Notes: Mouse model with the mutation for NPC knocked in.

Novel Bile Acids as Biomarkers for Early Detection of Niemann-Pick Type C Disease
Jiang, Xuntian ; Ory, Daniel
T-014292

— Technology Description Researchers at Washington University in St. Louis have developed a set of novel bile acid biomarkers to screen, diagnose, and monitor the progression of Niemann-Pick type C (NPC) disease. Current testing for this disease takes an average of three months, is invasive (a skin…

Ceramide profiling for blood-based predictive screening for cardiovascular disease, heart failure and death
Ory, Daniel ; Peterson, Linda ; Schaffer, Jean
T-014627

— 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…

Gadd7 haploinsufficient mutant CHO cell line
Listenberger, Laura ; Ory, Daniel ; Schaffer, Jean
T-019113

— 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…