Abstract: The invention provides devices and methods for non-invasive monitoring and measuring of intraocular pressure (IOP) of a subject. Embodiments include a lens that is adapted to fit on the subject's eye, a microstructure disposed in or on the lens, the microstructure having at least one feature that exhibits a change in shape and/or geometry and/or position on the lens in response to a change in curvature of the lens. When the curvature of the lens changes in response to a change in IOP, a corresponding change in shape and/or geometry and/or position of the feature may be used to determine the change in IOP. The change in the feature is detectable in digital images of the lens taken with a mobile electronic device such as a smartphone.

Abstract: Disclosed are novel gene therapy constructs containing both HEXA and HEXB genes to treat GM2 gangliosidoses, including Sandhoff disease and Tay-Sach's disease. Also described are co-treatments using chaperone and anti-inflammatory agents to enhance the effects of gene therapy.

Abstract: A method for detecting long QT syndrome in a subject comprises obtaining data corresponding to an electrocardiogram (ECG) signal of the subject, identifying a set of features in the data based on selected inflection points of the ECG signal, using the set of features to categorize segments of the ECG signal, and using the categorized segments of the ECG signal and the inflection points to classify the ECG signal as normal or as long QT syndrome. Long QT syndrome is detected when the subject's ECG signal is classified as long QT syndrome. The method may include determining whether the long QT syndrome is Type 1 or Type 2.

Abstract: Study of intracardiac electrograms (IEGMs) during atrial fibrillation (AF) provides clinically significant information that can be used in ablation therapy. Methods include determining a regional feature, e.g., dominant frequency (RDF), which encompasses the relationship between simultaneously recorded electrodes and identifies the feature components of a region, rather than the feature of a single electrode. Methods employing the regional feature may be used to identify and characterize variation and disorganization in wavefront propagation or wave breaks (WBs) at each recording site, and may be used to direct catheter ablation therapy.

Abstract: Disclosed are novel gene therapy constructs containing both HEXA and HEXB genes to treat GM2 gangliosidoses, including Sandhoff disease and Tay-Sach's disease. Also described are co-treatments using chaperone and anti-inflammatory agents to enhance the effects of gene therapy.

Abstract: An apparatus and method for surgical tracking comprises an imaging device that generates an image of a tissue volume; an electromagnetic (EM) sensor that creates a reference frame for EM tracking in three dimensions; at least one EM sensor adapted to be attached to the tissue to track local deformation and movement of the tissue volume; a processor that registers the image with the EM-tracked tissue volume and surgical tool in real time, and produces an output; and a feedback device that provides feedback about the location of the surgical tool relative to the tissue volume, based on the processor output. Embodiments are particularly useful in soft tissue, such as breast, where deformation before and during a procedure such as tumor resection complicate tracking of the tissue volume and a surgical tool.

Abstract: Methods, probe sets, kits, and compositions for gene deletion assays are disclosed. In some embodiments, the methods relate to preparing probes for a deletion assay, performing a deletion assay, or optimizing a deletion assay. In some embodiments, the methods and probe sets can provide reduced artifactual deletion frequency, for example, when analyzing samples subject to truncation artifacts. In some embodiments, the methods and probe sets can distinguish between small and large deletions.

Abstract: The invention provides devices and methods for non-invasive monitoring and measuring of intraocular pressure (IOP) of a subject. Embodiments include a lens that is adapted to fit on the subject's eye, a microstructure disposed in or on the lens, the microstructure having at least one feature that exhibits a change in shape and/or geometry and/or position on the lens in response to a change in curvature of the lens. When the curvature of the lens changes in response to a change in IOP, a corresponding change in shape and/or geometry and/or position of the feature may be used to determine the change in IOP. The change in the feature is detectable in digital images of the lens taken with a mobile electronic device such as a smartphone.