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Albinism (also called achromia, achromasia, or achromatosis) is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or defect in any one of a number of proteins involved in the production of melanin.  Certain forms of albinism are known to be due to mutations in tyrosine metabolism.  In oculocutaneous albinism (OCA), pigment is lacking in the eyes, skin and hair.  In ocular albinism, only the eyes lack pigment.  Patients with albinism experience varying degrees of vision loss associated with foveal h

DNA or RNA-based diagnostic tests for infectious diseases are critical in modern medicine. The current gold standard for COVID-19 detection is testing SARS-CoV-2 viral RNA by quantitative reverse transcription Polymerase Chain Reaction (RT-qPCR). This method involves patient sample collection with a nasopharyngeal swab, storage of the swab in a universal transport medium during transport to testing site, RNA extraction, and analysis of the extracted RNA sample.

X-linked forms of retinitis pigmentosa (XLRP) are relatively severe blinding disorders, resulting from progressive photoreceptor dysfunction primarily caused by mutations in RPGR or RP2 gene.

Retinal degeneration is a deteriorative condition of the human retina caused by the progressive and eventual death of photoreceptor cells. To date, no effective treatment for genetically inherited or age-associated retinal degeneration, which includes a large patient population worldwide, is available.

This technology includes antibodies for TMC1 protein as a treatment for hearing loss. TMC1 is one of the common genes causing hereditary hearing loss. Our laboratory used synthetic peptides corresponding to the TMC1 protein to immunize rabbits. The resulting antisera were shown to bind to TMC1 protein expressed in heterologous expression systems. TMC1 protein is required for the transduction of sound into electrical impulses in inner ear sensory cells.

Topoisomerase 3B (TOP3B) is the only topoisomerase that can act on RNA as well as DNA, and thus has been a target of interest for the development of cancer therapies and RNA viral infection therapies. In the context of cancer, TOP3B is not an essential gene, but a subset of cancer cells with pre-existing genome instability are particularly vulnerable to the inactivation of TOP3B. While inhibitors for other topoisomerases are among the most potent and widely used anticancer agents, there are no known inhibitors of TOP3B.

This technology includes a vaccine for lowering plasma triglycerides by inducing the formation of autoantibodies against either ANGPTL3 or ANGPTL4, which are inhibitors of Lipoprotein Lipase. This was done by conjugating synthetic peptides based on ANGPTL3 or ANGPTL4 to virus- like particles (VLPS). Injection of the vaccine in animal models was shown to induce the autoantibody against the target and to lower plasma triglycerides.

This technology includes a fully automatic 3D image processing system to segment the heart as well as other organs from contrast-enhanced cardiac computed tomography (CCT) images. Our method detects four cardiac chambers including left ventricle, right ventricle, left atrium, right atrium, as well as the ascending aorta and left ventricular myocardium. It also classifies noncardiac tissue structures in the CCT images such as lung, chest wall, spine, descending aorta, and liver.

This technology includes a small molecule drug (VDAC inhibitor, also known as VBIT4) that may be useful for inhibiting lupus disease. To test lupus animal model, VBIT4 was continuously administered for 5 weeks to mice and there was no mortality or clinical symptoms in these animals. Additionally, VBIT4 treatment blocked the development of skin lesions and alopecia of the ears and face, and suppressed the thickening of the epidermis that accompanies leukocyte infiltration.

This technology includes a microscopy method that reduces the speed penalty at least 1000-fold, while retaining resolution improvement. A Digital mirror device (DMD) or sweptfield confocal unit is used to create hundreds to thousands of excitation foci that are imaged to a sample mounted in a conventional microscope and record the resulting emissions on an array detector. Detection of each confocal spot is done in our proprietary software, as is the processing and deconvolution that is used for a 2x resolution enhancement.