Clinically known as Neuronal Ceroid-Lipofuscinoses (NCL), Batten disease, is a rare neuron killing disease and one of the lysosomal storage disorders (LSDs). It is associated with a mutation or lack of palmitoyl-protein thioesterase-1 (PPT1) gene. It manifests very early in a child's life causing absence of brain activity as early as 4 years of age.
Traumatic brain injury (TBI) is a major health problem. Between 3.2 and 5.3 million people live with long-term disabilities resulting from TBI, and thus, contribute to the need to develop therapies that treat TBI-induced cellular damage. Researchers at the National Institute of Child Health and Human Development (NICHD) have developed a device that simulates the pressure waves resulting from explosions.
Microduplications of the GPR101 gene (located on chromosome Xq26.3 and encodes a G-protein coupled receptor) can result in an excess of growth hormone causing gigantism, that has an onset in early childhood. It is also associated with the growth of sporadic growth hormone producing adenomas in some patients with acromegaly.
The National Institute of Child Health and Human Development (NICHD), Division of Intramural Research, is seeking statements of capability or interest from parties interested in collaborative research to further develop, evaluate, or commercialize clinical samples with genetic mutations associated with endocrine tumors.
Despite several partially effective prophylactic vaccines for SARS-CoV-2 exist, patients worldwide still succumb to COVID-19. New therapeutics to treat this disease are still needed. Upon host invasion, a critical step in the pathogenesis of COVID-19 is intracellular replication of SARS-CoV-2 before viral particles invade nearby healthy cells. This triggers an extreme inflammatory response that may lead to acute respiratory distress syndrome (ARDS) or transmission to another host.
Cancer cells can upregulate autophagy – cell destruction – as a response to chemotherapy. Investigators in Dr. Melvin DePamphilis’ laboratory at the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) have shown that compounds identified by screening a library of compounds blocks autophagy in some cancer cells (e.g., melanoma) but are not toxic to normal cells. Cancer cells with mutations in the BRAF oncogene are especially dependent on autophagy. Treatment of cancer cells with the BRAF mutation can increase the efficacy of chemotherapy.
Gel materials, particularly hydrogels, typically lose their mechanical strength and stiffness as they swell. This property limits their use in both biological (e.g., cartilage and ECM repair) and non-biological (e.g., sealant) applications. Innovative materials in both medical and non-medical application areas are sorely needed.
Neurites of the central nervous system can be conceptualized as cylindrical pores with finite lengths and radii. In response to physical trauma, axons may assume a “beaded” morphology which alters their ability to conduct electrical impulses, impairing brain function. These microstructural changes are thought to underlie some of the cognitive defects observed in patients with traumatic brain injury (TBI). Current methods for characterizing traumatic brain injury (TBI) cannot provide microstructural detail on the 3-dimensional shape of axonal segments.
The National Cancer Institute's Urologic Oncology Branch is seeking statements of capability or interest from parties interested in collaborative research to further develop, evaluate, or commercialize the use of Tempol to target HIF-2a in cancer.
Biological homeostasis is a state of steady internal, physical, and chemical conditions maintained by a living organism observed at the cellular level. Biological homeostasis can vary in order to alter the cellular physical and chemical conditions.