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Rhabdomyosarcoma (RMS) is the most common type of soft tissue sarcoma in children and makes up 3% of all childhood cancers. Aveloar Rhabdomyosarcoma is the most aggressive subtype and is primarily established through a chromosomal translocation resulting in the fusion protein PAX3-FOXO1. Despite aggressive therapy, the 5-year survival rate for patients with high risk or recurrent Fusion Positive RMS (FP-RMS) is low (~30% and ~17%, respectively). Therefore, new therapies targeting the PAX3-FOXO1 oncogenic driver are urgently needed.  

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.

Scientists at the Eunice Kennedy Shriver National Institute for Child Health and Human Development (NICHD) have developed a method implemented as pulse sequences and software to be used with magnetic resonance imaging (MRI) scanners and systems. This technology is available for licensing and commercial development. The method allows for measuring and mapping features of the bulk or average apparent diffusion coefficient (ADC) of water in tissue – aiding in stroke diagnosis and cancer therapy assessment.

Drug delivery technologies have long claimed the ability to selectively deliver therapeutic cargo to target cells. Despite advances in nanomedicine and drug delivery systems, there are no targeted nanoscale drug delivery technologies on the market. Thus, there is still tremendous potential in improved therapeutic efficacy when targeted drug delivery is achieved. 

Substance use disorder is a chronic medical condition, taking its toll on our public health care and judicial systems in an economically unsustainable way.  More than 20 million Americans suffer from substance use disorders.

Researchers at the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) developed an MRI-method that is based on the acquisition of multiple pulsed field gradient (m-PFG) rather than single-pulsed field gradient (s-PFG) MRI sequences. In particular, double PFG (dPFG) MRI sequences offer higher sensitivity and greater robustness, as they are more sensitive to the effects of “restriction;” i.e., to water trapped within the axon’s intracellular space, and thus to the diameter of the axons.

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.

Dopamine is a major neurotransmitter in the central nervous system and among other functions is directly related to the rewarding effects of drugs of abuse.  Dopamine signaling is mediated by D1, D2, D3, D4 and D5 receptors.  The dopamine D3 receptor is a known target to treat a variety of neuropsychiatric disorders, including substance use disorders (e.g. cocaine and opioid), schizophrenia and depression.

The only currently available treatment for Menkes disease, subcutaneous copper histidinate injections, is successful only in patients with ATP7A gene mutations that do not completely corrupt ATP7A copper transport function (estimated 20-25% of affected patients) and when started at a very early age (first month of life). The combination of viral gene therapy with copper injections provides working copies of the ATP7A copper transporter into the brain, together with a source of the substrate (copper)  needed for proper brain growth and clinical neurodevelopment.