Summary:
The National Eye Institute seeks research co-development partners and/or licensees for novel methods of cryopreserving cells, tissues, and organs via FOXO1 activation and other mechanisms.
The limited choice in cell types available for in vitro studies has become an obstacle in hibernation research.
Researchers at the National Eye Institute for the first time have successfully established iPSC line(s) from a mammalian hibernator, which can be potentially used to generate various cell types and tissue models for in-depth mechanistic studies of hibernation and coldness tolerance in vitro.
X-linked retinoschisis (XLRS) is an inherited, monogenetic ocular disease caused by mutations in the retinoschisin (RS1) gene, resulting in the development of cystic cavities throughout the retina and leading to juvenile macular degeneration. Approximately 1:15,000 males in the US are affected, classifying the condition as an orphan indication.
Researchers at the National Eye Institute (NEI) have discovered an invention describing a composition and method(s) of using such composition for preserving viability of cells, tissues, or organs at a low temperature (around 4ºC). Current cold storage solutions or methods for cells, tissues, and organs are suboptimal due to irreversible damage to cold-sensitive tissue or organ transplants that need a longer term of storage for facilitating clinical practices.
The culture of mouse embryos ex utero and continuous monitoring and imaging of embryos as they develop have applications in drug testing, genetic studies, and basic research on embryonic development. However, the embryo culture systems currently available for post-implantation embryos include rolling bottle culture systems, which do not permit imaging of the developing embryos and do not support the long-term survival and development of embryos ex utero.
Approximately one-third of non-syndromic retinal dystrophies involve a defect in a ciliary protein. Non-syndromic retinal ciliopathies include retinitis pigmentosa, cone dystrophy, cone-rod dystrophy, macular dystrophy, and Leber-congenital amaurosis (LCA). Many CEP290-LCA patients also exhibit auditory and olfactory defects. Induced pluripotent stem cells (iPS) cells were derived from patients with LCA and unaffected relatives.
The National Eye Institute (NEI) seeks research collaborations and/or licensees for the use of these iPS cells.
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.