Main Menu

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

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.

The retinal pigment epithelial cells (RPE) make up a polarized monolayer in the vertebrate eye that separates the neural retina from the choroid, and performs a crucial role in retinal physiology by forming a blood-retinal barrier and closely interacting with photoreceptors to maintain visual function.  Many ophthalmic diseases, such as age-related macular degeneration, are associated with a degeneration or deterioration of the RPE. 

Interleukin (IL)-34 is a homodimer that is produced mainly by keratinocytes, neuronal cells and regulatory T cells (Tregs). It is believed to play important roles in chronic inflammation and the homeostasis of microglia. Currently, there is no effective treatment for many types of retinal degeneration. An improved treatment of autoimmune uveitis is also needed, as current uveitis treatment primarily uses steroidal anti-inflammation medication, which may produce significant unwanted side effects in long-term use.

Regulatory B-cells (Breg) play an important role in reducing autoimmunity and reduced levels of these cells are implicated in etiology of several auto-inflammatory diseases. Despite their impact in many diseases, their physiological inducers are unknown.  Given that Bregs are a very rare B-cell, identifying factors that promote their development would allow in vivo modulation of Breg levels and ex-vivo production of large amounts of antigen-specific Bregs to use in immunotherapy for auto-inflammatory diseases.
 

Proinflammatory T-helper 17 cells (Th17) play important roles in host immune defense against infection, but uncontrolled activation of these cells, known as the Th17 response, may cause autoimmune and autoinflammatory diseases (uveitis, multiple sclerosis, rheumatoid arthritis, and Crohn’s disease) through the effects of Th17 lineage cytokines (such as, IL-17F, IL-22 and GM-CSF). Importantly, IL-17A (a proinflammatory cytokine) represses other Th17 lineage cytokines by upregulating the regulatory cytokine IL-24.

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.