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This technology includes human cell lines from patients who have genetic defects in MOGS, the gene encoding mannosyl-oligosaccharide glucosidase, causing the rare congenital disorder of glycosylation type IIb, also known as MOGS-CDG. This defects appears to impair the ability of viruses to infect a second round of cells, which can be used to study and prevent infections. This is likely related to impaired viral replication and cellular entry. This finding has implications for Ebola and Zika, as well as other viral infections.

This technology includes a transgenic mouse model of Niemann-Pick Disease Type C (NPC), which is a rare neurodegenerative disorder, characterized by intracellular accumulation of cholesterol and gangliosides. The mouse strain, Tg(Npcl), expresses wild-type NPC1 gene under the control of the prion promoter. When combined with the NPC deficient mouse model, BALB/c npcnih/nih, also known as Npcl-/-, the transgene insertion allele rescues life expectancy of Npc1-/- mice. Npc1-/- mouse have reduced life expectancy and die around 8 weeks, making it a difficult model to be utilized.

This technology includes transgenic mice to be used in the study of melanocyte stem cells (MSCs) for utilization in regenerative medicine. Using the melanocyte system as a model, we investigated establishment of MSCs in the hair bulge - the stem cell compartment of the hair. During embryogenesis, all melanoblasts express SOX10, but this expression is downregulated during hair follicle morphogenesis and MSC differentiation. To further study the role of SOX10, we generated transgenic mice overexpressing SOX10 in melanoblasts.

This invention relates to a diagnostic kit for assessing exposure to or infection by a koala retrovirus. The kit consists of specific primers and probes for the detection of three distinct subtypes of infectious koala retrovirus and may be useful in various species, including humans, primates, and koalas.

This invention relates to a novel gammaretroviral vector packaging cell line and a method of producing gammaretroviral vectors suitable for gene therapy. The described vectors may contain the gibbon ape leukemia virus (GALV) envelope with a CD11D8 epitope tag enabling their purification on a monoclonal antibody conjugated column. These vectors have several advantages over existing systems, including a broader host range, higher infectivity, and lower potential for replication.

The invention relates to rabbit antisera raised against purified human chymotrypsin and amylase. Both chymotrypsin and amylase are produced by the pancreas and play important roles in digestion. Abnormal levels of chymotrypsin and amylase have been known to occur with multiple pancreas-related disorders, including pancreatitis. Measuring levels of these two enzymes using these polyclonal antibodies can help determine if a pancreas is functioning correctly.

This technology relates to a software package called NIMH DAO Toolbox that uses multithreading and a unique buffer structure to shorten gaps in sample readouts. Data acquisition devices running in continuous sampling mode collect data samples at a given sampling rate. The samples are typically stored in a memory buffer and read out at a regular interval. If the sampling rate is short enough, there can be a gap between the time the first sample is acquired and the time that sample is available to the user. This gap is typically on the order of tens of milliseconds.

The technology relates to therapeutic approaches that inhibit and block the replication of the endogenous HERV-K retrovirus. Previous work has shown that patients with Amyotrophic Lateral Sclerosis (ALS) can have HERV-K activation. In animal models, activation of HERV-K can lead to neurodegenerative symptoms similar to those exhibited by ALS patients. Work in these animal models has allowed the identification of the responsible transcription factor (TDP-43) as well as the corresponding positions of the HERV-K promoter binding sites.

This invention relates to the synthesis and methods of using a drug, deuterated L-DOPS, to treat deficiencies in the neurotransmitter norepinephrine. This classic neurotransmitter has roles in both the brain and the periphery. In the brain, norepinephrine is thought to play important roles in attention, memory, sleep, pain, movement, distress, and mood. Outside the brain, norepinephrine mediates regulation of the circulation by the sympathetic nervous system by increasing blood pressure.

This invention includes the identification of a new mutation in the collagen type VI (COL6A1) gene, including a method for diagnosing and treating patients with this mutation. Collagen type VI-related dystrophies (COL6-RD) are devastating neuromuscular disorders that manifest with progressive generalized muscle weakness, contractures, and respiratory failure. Currently, no cure exists for COL6-RD.