With grim prognosis hanging overhead, doctors and scientists at universities and institutions across the U.S. worked tirelessly to develop the world’s first custom gene-editing therapy to save the life of a newborn.
Recent advances in electronics and optics have opened new possibilities for terahertz (THz) waves—an invisible type of light that falls between infrared light and microwaves on the spectrum. The use of THz scattering for medical diagnosis is a promising frontier in this field, as THz waves can probe tissue structures in ways that traditional imaging methods cannot. Emerging THz measurement methods have the potential to detect subtle changes in tissue architecture that occur in diseases like cancer and burn injuries, serving as a powerful diagnostic tool.
However, existing THz imaging techniques face significant limitations for medical applications. Most existing approaches rely primarily on water content differences between healthy and diseased tissue as their main source of diagnostic contrast—an approach that proves overly simplistic for complex disease conditions.
Moreover, while polarization measurements of reflected THz waves seem to be valuable for tissue diagnosis, the underlying mechanisms that create different polarization responses in tissues remain poorly understood. This gap in understanding underscores a need for computational models capable of explaining and predicting the phenomena that researchers have observed experimentally.
This study investigated neurodegeneration in MOGAD, independent of relapses, by comparing clinical, cognitive, and advanced MRI markers in MOGAD, relapsing-remitting MS, and healthy control.
Progression independent of relapse activity (PIRA) is a novel clinical concept in multiple sclerosis (MS) that describes an insidious, persistent disability accrual not related to attacks,1 occurring not only in progressive MS phenotypes but also in the early disease and relapsing-remitting phases (RRMS).1,2 PIRA seems to reflect the presence of chronic smoldering inflammation and subsequent neurodegenerative pathobiological processes in MS.2,3 Cognitive decline independent of relapse activity (cognitive PIRA) can be a sensitive measure of neurodegeneration in MS, even independent of clinical worsening,4,5 and in other neurodegenerative conditions.6,7 Longitudinal structural MRI (sMRI) brain volume loss, measured using MRI scans at different intervals, is a marker of progressive neuroaxonal loss and atrophy and has been used to assess treatment efficacy in MS.8–11 White matter atrophy involves myelin and axonal loss, often caused by Wallerian degeneration. Gray matter atrophy is widespread, affecting areas such as the neocortex, thalamus, hippocampus, and cerebellum, and is mainly due to neuroaxonal loss and neuronal shrinkage rather than demyelination.12–14
Diffusion-weighted imaging (dMRI) is an advanced MRI approach allowing the evaluation of the microstructural brain tissue damage. Neurite orientation dispersion and density imaging (NODDI) is a water-diffusion model, which can interpret changes within one of the three compartments: intra-axonal (neurite density index—NDI), extraneurite (ODI), and free water (isotropic volume fraction—ISOVF).15 The histopathologic validation studies on the NODDI model have shown significant correlations between the ODI and circular variance, a marker of neurite orientation variability, as well as between ODI and myelin staining fraction in MS samples.16 Negative correlations were observed between the NDI and circular variance in healthy controls (HCs) and positive correlations between NDI and markers of myelin, axon, and microglia content.
The MRI shows a brain tumor in an inauspicious location, and a brain biopsy will entail high risks for a patient who had consulted doctors due to double vision. Situations such as this case prompted researchers at Charité—Universitätsmedizin Berlin to look for new diagnostic procedures. The result is an AI model.
The model makes use of specific characteristics in the genetic material of tumors—their epigenetic fingerprint, obtained for example from cerebrospinal fluid, among other things. As the team shows in the journal Nature Cancer, the new model classifies tumors quickly and very reliably.
Today, far more types of tumors are known than the organs from which they arise. Each tumor has its own characteristics: certain tissue features, growth rates and metabolic peculiarities. Nevertheless, tumor types with similar molecular characteristics can be grouped together. The treatment of the individual disease depends decisively on the type of tumor.