Main Menu

This technology includes a strategy to generate antibodies of rabbit origin, both polyclonal and monoclonal, which have strong affinity to the TAT sequence and which enable specific immunocapture or immunodetection of TAT containing frataxin and analogs for quantitative or qualitative assays. In addition, antibodies that react with the FXN region have also been generated with this strategy. The HIV virus encoded a translational activator protein containing a 12 amino acid domain which permits transmembrane delivery of any therapeutic protein containing the sequence.

This technology includes a series of novel benzene-1,4-disulfonamides that activate TRPML1 receptor. The TRPML1 receptor is a lysosomal Ca2+ channel that has been shown to be involved in controlling lysosome functions, among then the maintenance of the integrity of the plasma membrane and the modulation of autophagosome-lysosome fusion. The improved ability of the receptor to deliver Ca2+ ions to the cytosol had been correlated with its capacity to modulate autophagy and lysosome exocytosis.

This technology includes compounds that improve endoplasmic reticulum-lysosomal trafficking and normalizes the Niemann-Pick type C (NPC) phenotype in assays using NPC1 patient cells, which can be used for the treatment of NPC, other lysosomal storage disorders, and potentially other neurodegenerative disorders. NPC is a rare neurodegenerative lipidosis caused by mutations in NPC1 or NPC2 genes, and characterized by the accumulation of cholesterol and glycolipids in the late endosomes and lysosomes. Currently there is no FDA-approved treatment for this devastating neurodegenerative disease.

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.

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.

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.

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.

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.

This technology includes the administration of the antiglucocorticoid mifepristone for the treatment of diabetes. Administration of mifepristone (50 mg orally every 6 hours) for one week improves hepatic and adipose insulin resistance in men and women with pre-diabetes or mild type 2 diabetes mellitus.

This technology includes a Drosophila mutant strain that can be used as an in vivo model for diseases of the oral cavity and digestive tract (Sjogren's syndrome, colitis, colon cancer, inflammatory bowel disease), where the mucous membrane is disrupted or non-functional. This mutant lacks a mucous membrane and displays epithelial cell damage, uncontrolled cell proliferation and the up-regulation of conserved signaling pathways (JAK/STAT).