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.

The Eunice Kennedy Schriver National Institute of Child Health and Human Development is seeking statements of capability or interest from parties interested in collaborative research to further develop, evaluate, or commercialize a new method for stabilizing molecular complexes in polyacrylamide gels.

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. Therefore, therapeutics that can successfully curb the replication of SARS-CoV-2 are imperative. 

Immunotherapy is a cutting-edge new category of treatment that aims to harness and, in some cases, modify the patient’s own immune cells to improve their ability to cure diseases. It can be an effective approach for a variety of conditions, ranging from cancer to inflammatory diseases.  However, a number of obstacles to the overall success of immunotherapy still exist.  For example, reactivity against a target antigen can be attenuated or the lifespan of the “modified” immune cells can be too short.

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.

Measuring and mapping nervous tissue microstructure noninvasively is a long sought-after goal in neuroscience. Clinically, several neuropathologies such as cancer and stroke, are associated with changes in tissue microstructure. Diffusion tensor imaging (DTI), which models diffusion anisotropy, is an ideal imaging modality to elucidate these changes. However, DTI provides a mean diffusion tensor averaged over the entire MRI voxel. This has limitations when applied to heterogeneous neural tissue.

Immune checkpoint inhibitors (ICIs) vastly improved the outcome of various advanced cancers; however, many are less likely to respond to single-agent ICI. Tumors with low T-cell infiltration are "immunologically cold" and less likely to respond to single-agent ICI therapy. This diminished response is presumably due to the lack of neoantigens necessary to activate an adaptive immune response. On the other hand, an "immunologically hot" tumor with high T-cell infiltration has an active anti-tumor immune response following ICI treatment.