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.

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.

Super-Resolution Fluorescence Enhanced Imaging using Bleaching/Blinking Assisted Localization Microscopy (BALM)

The invention relates to systems and methods for localization microscopy for superresolution imaging of fluorescent molecules. The method utilizes intrinsic bleaching/blinking properties of fluorophores in which superresolution is achieved by capturing successive images and subtracting from each either the subsequent image. The location of a single fluorescent molecule can be identified when the molecules either photobleach, blink off, or blink between successive images using a higher magnification lens to achieve a smaller pixel size.

Immortalized Organ of Corti Cell Line OC-k3

Available for nonexclusive licensing as a research material is a conditionally immortalized Organ of Corti cell line called OC-k3. Sensory cells from the auditory organ, the Organ of Corti, are terminally differentiated and cannot be cultured. Moreover, few of them can be isolated per cochlea and survive only few hours after isolation making impossible to use on them many biochemical and molecular biology techniques. OC-k3, expresses many markers of sensory cells and it has already been used as an in vitro model for a variety of studies.