Fibroblast Cell Lines Homozygous for Glucocerebrosidase (GBA1) Mutation N370S for the Screening of Small Molecules for Gaucher Disease Treatment

This technology includes two human fibroblast cell lines be used to study the defects in GBA1 gene and protein and to screen small molecules for involvement in Gaucher disease. Glucocerebrosidase (GBA1 or GCase or beta-glucosidase) is a lysosomal enzyme, responsible for breakdown of a fatty material called glucocerebroside (or glucosyl ceramide). Deficiency or malfunction of GBA1 leads to the accumulation of insoluble glucocerebrosides in tissues, which is a major symptom of Gaucher disease. Gaucher disease is a rare and heterogeneous disorder, caused by inherited genetic mutations in GBA1.

NIMH DAO Toolbox: Data acquisition software that enables real-time sample analysis

This technology relates to a software package called NIMH DAO Toolbox that uses multithreading and a unique buffer structure to shorten gaps in sample readouts. Data acquisition devices running in continuous sampling mode collect data samples at a given sampling rate. The samples are typically stored in a memory buffer and read out at a regular interval. If the sampling rate is short enough, there can be a gap between the time the first sample is acquired and the time that sample is available to the user. This gap is typically on the order of tens of milliseconds.

A Neuronal Induced Pluripotent Stem Cell (iPSC) Line with CRIPSR Inhibition Gene Knockdown

This technology includes the combination of an induced pluripotent stem cell (iPSC) line that can inducibly be differentiated into neurons (using an inducible Neurogenin 2, Ngn2, cassette) and enable CRISPR inhibition gene knockdown (via stable expression of dCas9-BFP-KRAB). The combination of these elements in a cell line enables multiple lines of research, including small molecule screens for drug development in neuronal disease models, as well as studying stem cell biology in an iPSC neuronal cell model.

DeePlexing – Extending Imaging Multiplexity Using Machine Learning

Spatial proteomics and transcriptomics are fast-emerging fields with the potential to revolutionize various branches of biology. In the last five years, various multiplex immunofluorescence and immunohistochemistry imaging methods have been developed to stain 5-60 different protein markers in a given tissue. Nonetheless, most of these techniques are iterative and can image a maximum of 3-8 markers in a single cycle, resulting in processing time of several hours to days.

Free Breathing Motion Corrected Pixel-wise MRI Myocardial T1 Parameter Mapping for Clinical Cardiac Imaging

This technology includes a method for performing cardiac imaging without the need for the patient to hold their breath. Free breathing pixel-wise myocardial T1 parameter mapping includes performing a free-breathing scan of a cardiac region at a plurality of varying saturation recovery times to acquire a k-space dataset; generating an image dataset based on the k-space dataset; and performing a respiratory motion correction process on the image dataset.

Device for Closure of Transvascular or Transcameral Access Ports

This technology includes part of transcatheter aortic valve replacement and to enable non-surgical thoracic aortic aneurysm endograft repair. The invention enables a completely new way to access the arterial circulation to allow introduction of large devices, such as transcatheter aortic valve replacement, percutaneous left ventricular assist devices, and thoracic aortic endografts. It also can be used in most labeled and off-label applications of Amplatzer (AGA Medical, St Jude) nitinol occluder devices to occlude intracardiac holes and to allow non-surgical direct access to the heart.

Isotopes of Alpha Ketoglutarate and Related Compounds for Hyperpolarized MRI Imaging

This technology includes 1-13C-ketoglutarate which can be used for imaging the conversion to hydroxyglutarate (HG) or Gln in cancer cells with an IDH1 mutations by hyperpolarized MRI. The ability to detect the status of IDH1 mutations is clinically prognostic for multiple cancers. These exciting observations are limited by two factors, the major one being that the natural abundance of 13C at position C5 overlaps with 1-13C-2-hydroxyglutarate peak, which limits the sensitivity of analysis and prevents simultaneous observations of HG and Gln formation.

Systems and Methods for Applying Pressure to the Heart for the Treatment of Tricuspid Valve Regurgitation

This technology includes structures and methods for cinching a band around the heart for treating conditions including tricuspid valve regurgitation (TR). When positioned appropriately along the atrioventricular groove, the band is tightened around the heart which narrows the tricuspid annulus and relieves TR.

Helical Guidewires and Related Systems for Transcatheter Heart Valve Procedures

This technology includes a guidewire purpose-built for delivery of bulky transcatheter heart valves (THV). Conventional THV guidewires are rigid and have a distal tip shaped like a pigtail to prevent apical ventricular perforation. This invention is a 3-dimensional helical or antihelical curve that can protect against apical perforation, possibly better, and that allows subtle 3-mensional deflection to aid the operator in achieving coaxiality or overcoming delivery obstacles such as calcific spicules.

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