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Summary:

Lung metastases represent a major clinical challenge in advanced cancer, with poor survival rates and no effective therapies to prevent their development. Researchers at the National Cancer Institute (NCI) have developed C24:2, a first-in-class synthetic 3-O-sulfo-galactosylceramide analog. After lysosomal processing by dendritic cells, C24:2 switches immune specificity to activate type I NKT cells, triggering a potent IFN-γ–mediated Th1 response.

Mutations in the cone rod homeobox (CRX) transcription factor lead to distinct retinopathy phenotypes, including early-onset vision impairment in dominant Leber congenital amaurosis (LCA). Adeno-Associated virus (AAV) vector-mediated delivery of a CRX cDNA under the control of a CRX promoter region partially restored photoreceptor phenotype and expression of phototransduction genes in an in vitro model of CRX-LCA.

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.

Glaucoma is one of the world’s leading causes of irreversible blindness. There is no cure and vision lost from glaucoma cannot be restored. Glaucoma is associated with fluid build-up in the eye resulting in an increased intraocular pressure (IOP). The pressure may cause damage to the optic nerve and lead to progressive degeneration of retinal ganglion cells (RGC) and vision loss. Currently, available treatments for glaucoma delay progression by reducing IOP, but no therapies exist to directly protect RGC from degradation and loss. 

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.

Degeneration of retinal tissues occurs in many ocular disorders resulting in the loss of vision. Dysfunction and/or loss of Retinal Pigment Epithelium Cells (RPE) and disruption of the associated blood retinal barrier (BRB) tissue structures are linked with many ocular diseases and conditions including: age-related macular degeneration (AMD), Best disease, and retinitis pigmentosa. Engineered tissue structures that are able to replicate the function of lost BRB structures may restore lost vision and provide insight into new treatments and mechanisms of the underlying conditions. 

Problem: Cryopreservation is a process where living biological materials like cells, tissues, and cell therapies (which are susceptible to damage caused by unregulated chemical kinetics) are preserved by cooling to very low temperatures in the presence of specific cryopreservation media that protects the biological material from damage. In order to be used, the biological material ideally should be thawed in a controlled manner that minimizes damage and desirably brings the material back to a viable state.

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.

Many biological and clinical procedures require functional validation of a desired cell type. Current techniques to validate rely on various assays and methods, such as staining with dyes, antibodies, and nucleic acid probes, to assess stem cell health, death, proliferation, and functionality. These techniques potentially destroy stem cells and risk contaminating cells and cultures by exposing them to the environment; they are low-throughput and difficult to scale-up.

The retinal pigment epithelium (RPE) is a cell monolayer with specialized functions crucial to maintaining the metabolic environment and chemistry of the sub-retinal and choroidal layers in the eye. Damage or disease causing RPE cell loss leads to progressive photoreceptor damage and impaired vision. Loss of RPE is observed in many of the most prevalent cases of vision loss, including age related macular degeneration (AMD) and Best disease.