Abstract: Nucleic acids are described that encode for triggering receptor expressed on myeloid cells 2 (TREM2) and that can be used in expression constructs, vectors and gene therapies. Also described are methods of using the same for the treatment of TREM2-associated diseases and disorders, especially neurological diseases such as Alzheimer's Disease (AD), Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) or Nasu-Hakola Disease (NHD).

Abstract: The disclosure relates, in some aspects, to compositions and methods for treatment of neurodegenerative disease, for example Alzheimer's disease. In some embodiments, the disclosure provides expression constructs comprising a transgene encoding an APOE Christchurch (e.g., APOE3ch and/or APOE2ch) protein isoform or a portion thereof, an inhibitory nucleic acid targeting an APOE gene or a portion thereof, or any combination of the foregoing. In some embodiments, the disclosure provides methods of treating Alzheimer's disease by administering an expression construct to a subject in need thereof.

Abstract: In a clinical decision support method, outputs of computer-implemented analytical modules are computed for a patient. Information is displayed for the patient pertaining to a clinical question comprising outputs computed for the patient of analytical modules associated with the clinical question. The analytical modules may include modules configured to perform in silico genetic/genomic tests using genetic/genome sequencing (whole genome, whole exome, whole transcriptome, targeted gene panels, etc) or microarray data. A clinical question-module matrix (CQ-M matrix) may be generated for the patient associating clinical questions with analytical modules, and the method may further include populating the clinical questions with outputs computed for the patient of the analytical modules associated with the clinical questions by the CQ-M matrix.

Abstract: Methods and systems for monitoring and determining antimicrobial resistance and antimicrobial treatment using genomic subtype information. Various embodiments utilize molecular epidemiology and next-generation sequencing technologies (NGS) to monitor multi-drug resistant pathogens and provide early insight into emergent microbial threats.

Abstract: When generating visual representations of gene activity pathways for clinical decision support, a validated pathway database that stores a plurality of validated pathways is accessed, wherein each pathway describes at least one interaction between a plurality of genes. A processor (18) is configured to execute computer-executable instructions stored in a memory (16), the instructions comprising visually representing gene activity level (28) for at least one gene across a plurality of populations, retrieving a pathway (32) from the validated pathway database, wherein the pathway includes the at least one gene, and visually representing gene activity levels for all genes in the pathway.

Abstract: When generating visual representations of gene activity pathways for clinical decision support, a validated pathway database that stores a plurality of validated pathways is accessed, wherein each pathway describes at least one interaction between a plurality of genes. A processor (18) is configured to execute computer-executable instructions stored in a memory (16), the instructions comprising visually representing gene activity level (28) for at least one gene across a plurality of populations, retrieving a pathway (32) from the validated pathway database, wherein the pathway includes the at least one gene, and visually representing gene activity levels for all genes in the pathway.

Abstract: Methods and apparatus to identify and quantify the microorganisms present in a sample. Sequence reads are classified using existing methods, but the classification results are corrected to account for the number of reads expected to be falsely classified as determined through simulation. With statistics on the expected number of reads misclassified, a linear least squares method (non-negative or otherwise) or other related technique can be used to adjust the number of reads that are classified to various taxonomic units (e.g., species) and to determine more accurate values for the quantities of those taxonomic units actually present in the sample, eliminating microorganisms in taxonomic units falsely determined to be present in the sample.

Abstract: The present invention provides for a method to identify a hospital acquired infection. The method includes computing the number of changes over time between an infection sample and at least a subset of the plurality of infection samples and determining if the number of changes over time is within an interval of an expected number of changes. If so, marking the infection sample as a hospital acquired infection.

Abstract: The present invention relates to effective diagnosis of patients and assisting clinicians in treatment planning. In particular, invention provides a medical analysis system that enables refinement of molecular classification. The system provides a molecular profiling solution that will allow improved diagnosis, prognosis, response prediction to provide the right chemotherapy, and follow-up to monitor for cancer recurrence.

Abstract: Methods and systems for monitoring and determining antimicrobial resistance and antimicrobial treatment using genomic subtype information. Various embodiments utilize molecular epidemiology and next-generation sequencing technologies (NGS) to monitor multi-drug resistant pathogens and provide early insight into emergent microbial threats.

Abstract: A catalog (34) of molecular marker tests specifies molecular marker tests annotated with clinical applicability annotations. An electronic patient medical record (22) stores genetic sequencing data (20) of a patient. A clinical decision support (CDS) system (30) is configured to track the clinical context of the patient wherein the clinical context includes at least a disease diagnosis and a current patient care stage. A catalog search module (32) is configured to search the catalog of molecular marker tests to identify a molecular marker test having clinical applicability to the patient in the clinical context tracked by the CDS system. The search is automatically triggered by occurrence of a trigger event defined by a set of triggering rules. A testing module (44) is configured to perform a molecular marker test identified by the identification module in silico using the genetic sequencing data of the patient stored in the electronic patient medical record.

Abstract: In a predictive outcome assessment test for predicting whether a patient undergoing a breast cancer treatment regimen will achieve pathological complete response (pCR), differential gene expression level information are generated for an input set of genes belonging to the TGF-? signaling pathway. The differential gene expression level information compares baseline gene expression level information from a baseline sample (70) of a breast tumor of a patient acquired before initiating (71) a breast cancer therapy regimen to the patient and response gene expression level information from a response sample (72) of the breast tumor acquired after initiating the breast cancer therapy regimen by administering a first dose of bevacizumab to the patient. A pCR prediction for the patient is computed based on the differential gene expression level information for the input set of genes belonging to the TGF-? signaling pathway. Related predictive outcome assessment test development methods are also disclosed.

Abstract: A force feedback gripping device employs a mechanical gripper (23), an electromagnetic actuator (22) and a force feedback controller (21). The mechanical gripper (23) is operable to be actuated to one of a plurality of gripping poses for gripping an object. The electromagnetic actuator (22) includes a magnetorheological elastomer (“MRE”), wherein the MRE is operable to be transitioned between a plurality of shapes dependent upon a variable strength of a magnetic field applied to the MRE, and wherein each shape of the MRE actuates the mechanical gripper (23) to one of the gripping poses. The force feedback controller (21) is operable to control the variable strength of the magnetic field applied to the MRE based on an estimation of a gripping force of the mechanical gripper (23) and on a sensing of a load force of the object responsive to the gripping force of the mechanical gripper (23).

Abstract: A medical device and methods for locating the device include a structure having a length dimension and a surface (102). A volume (106) is associated with the surface and extends along a portion of the length dimension. Nanomaterials (108) are incorporated in the volume and configured to be responsive to an excitation signal such that the excitation signal generates a response from the nanomaterials to enable location of the structure within a subject.

Abstract: The present invention relates to a method for identifying multi-modal associations between biomedical markers which allows for the determination of network nodes and/or high ranking network members or combinations thereof, indicative of having a diagnostic, prognostic or predictive value for a medical condition, in particular ovarian cancer. The present invention further relates to a biomedical marker or group of biomedical markers associated with a high likelihood of responsiveness of a subject to a cancer therapy, preferably a platinum based cancer therapy, wherein said biomedical marker or group of biomedical markers comprises at least 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 8, 19, 20 or all markers selected from PKMYT1, SKIL, RAB8A, HIRIP3, CTNNB1, NGFR, ZCCHC11, LSP1, CD200, PAX8, CYBRD1, HOXC11, TCEAL1, FZD10, FZD1, BBS4, IRS2, TLX3, TSPAN2, TXN, and CFLAR.

Abstract: The present invention provides for a method to identify a hospital acquired infection. The method includes computing the number of changes over time between an infection sample and at least a subset of the plurality of infection samples and determining if the number of changes over time is within an interval of an expected number of changes. If so, marking the infection sample as a hospital acquired infection.

Abstract: Methods and systems for monitoring and determining antimicrobial resistance and antimicrobial treatment using genomic subtype information. Various embodiments utilize molecular epidemiology and next-generation sequencing technologies (NGS) to monitor multi-drug resistant pathogens and provide early insight into emergent microbial threats.

Abstract: Methods and apparatus to identify and quantify the microorganisms present in a sample. Sequence reads are classified using existing methods, but the classification results are corrected to account for the number of reads expected to be falsely classified as determined through simulation. With statistics on the expected number of reads misclassified, a linear least squares method (non-negative or otherwise) or other related technique can be used to adjust the number of reads that are classified to various taxonomic units (e.g., species) and to determine more accurate values for the quantities of those taxonomic units actually present in the sample, eliminating microorganisms in taxonomic units falsely determined to be present in the sample.

Abstract: The present invention relates to effective diagnosis of patients and assisting clinicians in treatment planning. In particular, invention provides a medical analysis system that enables refinement of molecular classification. The system provides a molecular profiling solution that will allow improved diagnosis, prognosis, response prediction to provide the right chemotherapy, and follow-up to monitor for cancer recurrence.

Abstract: Methods and systems for monitoring and determining antimicrobial resistance and antimicrobial treatment using genomic subtype information. Various embodiments utilize molecular epidemiology and next-generation sequencing technologies (NGS) to monitor multi-drug resistant pathogens and provide early insight into emergent microbial threats.