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