Gene Therapy for Niemann-Pick Disease Type C

Investigators at the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH) are seeking collaborators to further develop gene therapy to treat Niemann-Pick Disease Type C (NPC). NPC is a rare, autosomal recessive, neurodegenerative disease. Approximately 95% of patients with NPC have mutations in NPC1, a gene implicated in intracellular cholesterol trafficking. Mutations of NPC1 cause intracellular accumulation of unesterified cholesterol in late endosomal/lysosomal structures and marked accumulation of glycosphingolipids, especially in neuronal tissue.

A Human Progenitor Mast Cell Line for Allergic and Fibrotic Research and Therapeutic Screening

Hermansky-Pudlak Syndrome type-1 (HPS-1) is a rare genetic disorder that affects around 1 in 500,000 people worldwide and 1 in 1,800 Puerto Ricans. Patients with HPS-1 display oculocutaneous albinism, bleeding due to platelet abnormality, and pulmonary fibrosis. Those that develop pulmonary fibrosis often succumb and live no more than a decade after early onset of breathing problems.

Single-Chain Antibodies Directed to Norovirus GI.1 and GII.4 and Their Use

Vaccines and therapies to prevent and treat Norovirus infections are not available, despite the worldwide prevalence of Norovirus infections. Outbreaks of human gastroenteritis attributable to Norovirus commonly occur in group settings, such as hospitals, nursing homes, schools, dormitories, cruise ships and military barracks. This application claims isolated VHH monoclonal antibodies that specifically bind to a Norovirus polypeptide.

Synergistic Internal Ribosomal Entry Site (IRES)—MicroRNA-Based Approach for Attenuation of Flaviviruses and Live Vaccine Development

Many members of the Flaviviridae family are emerging and reemerging human pathogens that have caused outbreaks of devastating and often fatal diseases and represent a serious public health problem on a global scale. There is no single attenuation strategy that exists which is sufficient to prepare a safe, efficacious and immunogenic live attenuated virus vaccine that will work universally for Flaviviridae.

N6, A Novel, Broad, Highly Potent HIV-specific Antibody

This is a new antibody coming out of NIAID’s intramural program. N6 has evolved a unique mode of binding that depends less on a variable area of the HIV envelope known as the V5 region and focuses more on conserved regions, which change relatively little among HIV strains. This allows N6 to tolerate changes in the HIV envelope, including the attachment of sugars in the V5 region, a major mechanism by which HIV develops resistance to other VRC01-class antibodies. N6 was shown in pre-clinical studies to neutralize 98 percent of HIV isolates tested.

A Full-Length Infectious cDNA Clone of Zika Virus from the 2015 Epidemic in Brazil as a Genetic Platform for Studies of Virus-Host Interactions and Vaccine Development

An arthropod-borne virus, Zika virus (ZIKV), has recently emerged as a major human pathogen. Associated with complications during perinatal development and Guillain-Barré syndrome in adults, ZIKV raises new challenges for understanding the molecular determinants of flavivirus pathogenesis. This underscores the necessity for the development of a reverse genetic system based on an epidemic ZIKV strain. This technology relates to the generation and characterization in cell cultures of an infectious cDNA clone of ZIKV isolated from the 2015 epidemic in Brazil.

Ultra-sensitive Diagnostic Detects fg/mL-pg/mL Pathogen/Disease Protein by Visual Color Change

This technology is an ultra-sensitive colorimetric assay, based on an enzyme-catalyzed gold nanoparticle growth process, for detection of disease-associated proteins (biomarkers) and disease diagnosis. Current detection methods, such as ELISA immunoassays, measure concentrations above 0.1 ng/mL in a sample. PCR, although more sensitive than ELISA, requires expensive and specialized equipment and reagents, skilled labor, and complex analysis techniques. This assay detects fg/mL to pg/mL concentrations, allowing detection and diagnosis in the earliest stage of disease or infection.

Octopod (8-Pointed Star) Iron Oxide Nanoparticles Enhance MRI T2 Contrast

The octopod-shaped iron oxide nanoparticles of this technology significantly enhance contrast in MRI imaging compared to spherical superparamagnetic iron oxide nanoparticle T2 contrast agents. These octopod iron oxide nanoparticles show a transverse relaxivity that is over five times greater than comparable spherical agents. Because the unique octopod shape creates a greater effective radius than spherical agents, but maintains similar magnetization properties, the relaxation rate is improved. The improved relaxation rate greatly enhances the contrast of images.

Compositions and Methods for Detecting Loa loa

Loa loa is a filarial nematode estimated to infect 3-13 million people in Central and Western Africa. In parts of Africa, mass administration of ivermectin is common for onchocerciasis and lymphatic filariasis control. However, some individuals infected with Loa loa microfilariae in high densities are known to experience post-ivermectin severe adverse events, such as encephalopathy, coma, or even death. Therefore, diagnostic tools that can accurately identify and differentiate Loa loa microfilariae from other filarial infections are needed.