Sensor for Real-time Detection of Plasma Metabolites Levels for the Diagnosis and Care of Metabolic Disorders

This technology includes the development of devices capable of real-time evaluation of metabolite levels for the treatment of numerous metabolic disorders, including hyperammonemia and aminoacidopathies. Currently, the monitoring of metabolite levels is done in a hospital setting with specialized mass spectrometry instrumentation. As a consequence, susceptible patients who are undergoing a crisis need to visit the hospital for testing to determine if there is a metabolite disturbance.

Treatment of primary hyperoxalurias with small molecule lactate dehydrogenase inhibitors such as WO2018005807A1

This technology includes the use of novel lactate dehydrogenase (LDH) inhibitors, including WO2018005807A1, for the treatment of primary hyperoxalurias (PHs). PHs are rare autosomal recessive disorders caused by overproduction of oxalate, leading to recurrent calcium oxalate kidney stone disease, and in some cases end-stage renal disease. One potential strategy to treat PHs is to reduce the production of oxalate by diminishing the activity of LDH, the proposed key enzyme responsible for converting glyoxylate to oxalate.

Novel ACRV1/ALK2 Inhibitors and Methods for Inhibiting BMP Signaling for the Treatment of Fibrodysplasia Ossificans Progressiva (FOP)

This technology includes the identification and use of novel ACRV1/ALK2 inhibitors for the treatment of fibrodysplasia ossificans progressiva (FOP), an autosomal-dominant rare disease that affects one person in every 1-2 million. FOP is characterized by malformation of the great (big) toes during embryonic development and by progressive heterotopic endochondral ossification (HEO) postnatally, which leads to the formation of a second skeleton of heterotopic bone.

Novel Codon-Optimized MUT Gene Therapeutic for Methylmalonic Acidemia (MMA)

Methylmalonic Acidemia (MMA) is a metabolic disorder characterized by increased acidity in the blood and tissues due to toxic accumulation of protein and fat by-products resulting in seizures, strokes, and chronic kidney failure. A significant portion of MMA cases stem from a deficiency in a key mitochondrial enzyme, methylmalonyl-CoA mutase (MUT), required to break down amino acids and lipids. Currently, there are no treatments for MMA and the disease is managed primarily with dietary restriction of amino acid precursors and liver-kidney transplantation in severe cases.

Fibroblast Cell Lines (with L444P/RecNci1 Genotype) for the Screening of Small Molecules for Gaucher Disease Treatment

This technology includes two human fibroblast cell lines to be used to study the defects in GBA1 gene and protein and to screen small molecules for involvement in Gaucher disease. Glucocerebrosidase (GBA1 or GCase or beta-glucosidase) is a lysosomal enzyme, responsible for breakdown of a fatty material called glucocerebroside (or glucosyl ceramide). Deficiency or malfunction of GBA1 leads to the accumulation of insoluble glucocerebrosides in tissues, which is a major symptom of Gaucher disease.

Identification and Use of a Novel Functionally Selective GHSR1a Ghrelin Receptor Inhibitor, including NCGC00538279, for the Treatment of Food and Chemical Addiction

This technology includes a chemical series, including the NCGC00538279 compound, that selectively activates the GHSR1a G-protein pathway for calcium mobilization while only partially activating the beta-arrestin-2 translocation pathway. The resulting chemical series may be therapeutically valuable for addictive disorders. Activation of the GHSR1a G-protein pathway promotes production and secretion of multiple hormones, including insulin, growth hormone, and IGF1. Activation of the beta-arrestin-2 pathway stimulates dopamine production and may mediate addictive behaviors.

Systemic CRISPR Therapy for the Treatment of Inherited Diseases

This technology includes novel systemic adeno-associated virus (AAV)-mediated CRISPR gene therapy technology. While some diseases (e.g., retinal diseases) can be treated through local gene transfer, many diseases such as Duchenne Muscular Dystrophy (DMD) require systemic therapy. The CRISPR technology has two components, the Cas9 endonuclease, and the gRNA. To explore systemic CRISPR therapy, we co-delivered the AAV.Cas9 and AAV.gRNA vector to mdx mice, a mouse DMD model. Direct delivery to muscle yielded efficient gene correction.

Vascularized Thyroid-on-a-Chip for Personalized Drug Screening and Disease Modeling

This technology includes a micro-engineered “thyroid-on-a-chip” that combines human thyroid organoids with integrated micro-vasculature to replicate the gland’s native blood flow and 3-D architecture, enabling rapid, patient-specific drug screening. By permitting real-time perfusion of nutrients, hormones, and immune cells, the platform yields more physiologically relevant data than conventional static cultures or animal surrogates.

Rabbit Antisera to Various Matrix, Matricellular, and Other Secreted Proteins

The extracellular matrix (ECM) is composed of a group of proteins that regulate many cellular functions, such as cell shape, adhesion, migration, proliferation, and differentiation. Deregulation of ECM protein production or function contributes to many pathological conditions, including asthma, chronic obstructive pulmonary disease, arthrosclerosis, and cancer. Scientists at the NIH have developed antisera against various ECM components such as proteoglycan, sialoprotein, collagen, etc.. These antisera can be used as research tools to study the biology of extracellular matrix molecules.

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