Methods and Compositions for Treating Genetically Linked Diseases of the Eye

X-linked retinoschisis (XLRS) is an inherited, monogenetic ocular disease caused by mutations in the retinoschisin (RS1) gene, resulting in the development of cystic cavities throughout the retina and leading to juvenile macular degeneration. Approximately 1:15,000 males in the US are affected, classifying the condition as an orphan indication. 

Method for HLA LOH Detection in Liquid Biopsies

Human leukocyte antigen (HLA) LOH (LOH) is a known resistance mechanism by which cancers evade T cell receptor-(TCR-)based immunotherapies. This class of therapies includes immune checkpoint inhibition (ICI, e.g., Pembrolizumab), engineered TCR (T cell receptor)-T cell adoptive transfer, tumor infiltrating lymphocytes (TIL), T-cell engagers, and other modalities. Dozens of therapies in this category were developed with many in clinical trials. The resistance mechanism noted here, HLA LOH, causes these therapies to fail.

Modified Bacterial Strain for Otitis Media Vaccine

This invention relates to a strain of Moraxella catarrhalis containing a gene mutation that prevents endotoxic lipooligosaccharide (LOS) synthesis and potential use of the mutant for developing novel vaccines against the pathogen, for which there is currently no licensed vaccine. M. catarrhalis is one of the causative agents of otitis media (middle ear infection), sinusitis, and lung infections. The mutant is defective in the lpxA gene, whose enzyme product is relevant in lipid A biosynthesis (lipid A is part of the LOS).

Conjugate Vaccine for Neisseria Meningitidis

The invention discloses a vaccine which comprises lipooligosaccharide (LOS) isolated from N. meningitidis and conjugated to a carrier protein. The invention also discloses a method of making the acellular vaccine. The method consists of two main steps. In the first step the lipooligosaccharide (LOS), chosen so it does not contain the lacto-N-neotetraose human antigen (LNnT), is detoxified by a novel procedure which uses hydrazine to remove the O-linked fatty acids. In the second step, the detoxified LOS (dLOS) is covalently conjugated to a carrier protein such as Tetanus Toxoid (TT).

Human Sweet and Umami Taste Receptor Variants

The complexity of taste discrimination (salty, sour, sweet, umami and bitter) varies between human individuals and populations. Sweet and umami (the taste of glutamate) tastes play a major role in the perception of calorically-rich and essential nutrients and there are well-documented differences in individual perception of sweet and umami flavorings, many of which appear to be genetic in origin.

AFMAnalyze: Software Automation and Analysis of Atomic Force Microscopy (AFM) Data

AFMAnalyze is a software package that is designed to significantly enhance the analysis and application of Atomic Force Microscopy (AFM) data. This software automates AFM data collection and analysis, and is equipped with a Graphical User Interface (GUI)-intensive computational tool that is capable of replacing the manual or algorithmic methods for reconstructing, analyzing and interpreting large AFM data sets. AFMAnalyze provides a more robust, objective, and automated method for collecting and interpreting AFM results.

Genetic Mutations Associated with Stuttering

NIH investigators, for the first time, identified specific mutations associated with stuttering. These mutations are located within the genes encoding three enzymes, Glc-NAc phosphotransferase catalytic subunit [GNPTAB], Glc-NAc phosphotransferase recognition subunit [GNPTG], and N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase [NAGPA]. Together these constitute the pathway that targets lysosomal enzymes to their proper location.

Moraxella Catarrhalis Lipooligosaccharide Based Conjugate Vaccines for the Prevention of Otitis Media and Respiratory Infections

Moraxella catarrhalis is one of the three leading causative agents of otitis media in children. This is due in part to the current immunizations of children with Streptococcus pneumoniae polysaccharide and conjugate vaccines to prevent otitis media. The proportion of otitis media caused by pneumococcal strains covered by the vaccines have decreased while those caused by Moraxella catarrhalis and nontypeable Haemophilus influenzae have significantly increased.

Myosin-Based Protein-Protein Interaction Assay

Investigators at the National Institute on Deafness and Other Communication Disorders (NIDCD) have developed an assay for the detection of protein-protein interactions in living cells. This assay uses readily-available reagents and straightforward techniques that avoid the difficulty of purifying proteins or generating antibodies required for other binding studies. Proof-of-concept for this assay has been demonstrated, and a manuscript is in preparation for publication.

Automated Core Biopsy Instrument

The invention is an automated core biopsy instrument that may be operated with one hand. The instrument has a single activation element that causes a stylet to advance into the tissue of interest as a cutting cannula disposed around the stylet is fired to shear off the tissue into specimen notches disposed in the stylet. The invention is constructed so that the stylet and cutting cannula may be separately driven and biased. The cocking mechanism of the automated core biopsy instrument is used to cock both the stylet assembly and cutting cannula assemblies against separate biasing springs.
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