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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.

This technology includes a therapeutic approach to prevent secondary edema after cerebrovascular hemorrhage. Using an animal model, we found that edema is triggered by massive extravasation of myelomonocytic cells from the blood into the brain in response to hemorrhaging vessels. Administration of anti-LFA1 and anti-VLA4 antibodies resulted in an inhibition of extravasation of the myelomonocytic cells. This single dose treatment prevented secondary edema and markedly improved functional outcomes if administered within the first six hours following cerebrovascular hemorrhage.

This technology includes an automated and non-invasive assessment system called Automated Identification of subjects at risks of Multiple Sclerosis (AIMS) to assist clinicians in their diagnostic evaluation. A focus of AIMS is the ‘central vein sign’ (and other radiological findings).

The invention is a novel longer-lived mouse model for Gaucher disease. Gaucher disease is a genetic disorder that results from deficiencies in the enzyme glucocerebrosidase (GBA). The use of animal models to study how the disease progresses has been invaluable in research of this disorder. However, existing mouse models have been limited due to early mortality because the GBA enzyme plays an important role in lysosomal storage.

This technology includes the identification and use of antisense oligonuclecotides (ASOs) complimentary to the 5’UTR of SMN2 (Survival of motor neuron 2) for the treatment of spinal muscular atrophy (SMA). SMA is an autosomal-recessive motor neuron disease caused by the loss of both copies of the SMN1 gene. Copies of the similar gene SMN2 decrease the severity of this disease in a dose-dependent manner. Thus, increasing expression levels of the SMN2 transcript can be used to treat SMA.

This technology includes microRNAs for use in cell lines for protein production and potentially future treatments of cancer or diseases related to metabolism. Mmu-miR-466h was identified as a major apoptotic regulator in suspension adapted Chinese Hamster Ovary cells. Mmu-miR-466h was found to have the pro-apoptotic activity by targeting some anti-apoptotic genes for degradation during the exposure of CHO-S cells to the nutrients depleted media.

This technology includes a compound for use as a selective agonist of the A1 adenosine receptor (AR) for therapeutic hypothermia and other conditions. We have examined various synthesized nucleosides in a model of mouse hypothermia, in conjunction with AR knockout mice, to characterize the biological profiles. In trying to identify novel highly selective A1AR agonists that have superior in vivo activities, we have adapted a means of rigidifying the ribose moiety of adenosine in the form of a bicyclic (N)-methanocarba ring.

This technology includes a method using ionophores to reduce sickling in patients with sickle cell disease. Sickle cell disease is caused by polymerization of a hemoglobin mutant, and the only approved treatment acts by replacing sickle hemoglobin with fetal hemoglobin, thereby increasing the delay time prior to polymerization. This drug is only partially successful because it does not induce fetal hemoglobin synthesis in all cells.

This technology includes compounds that are selective agonists of the A3 receptor for the treatment of various disorders such as cancer and autoinflammatory diseases. Structurally, these compounds extend the class of (N)-methanocarba derivatives that are selective agonists of the A3 receptor.