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.

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.

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.

TMC1, a Deafness-Related Gene

Hearing loss is a common communication disorder affecting nearly 1 in 1,000 children in the United States alone, and nearly 50% of adults by the age of eighty. Hearing loss can be caused by environmental and disease-related factors; however, hearing loss due to genetic factors accounts for approximately 50% of cases.

Peptide Mimotope Candidates for Otitis Media Vaccine

This technology describes peptide mimotopes of lipooligosaccharides (LOS) from nontypeable Haemophilus influenzae (NTHi) and Moraxella catarrhalis that are suitable for developing novel vaccines against the respective pathogens, for which there are currently no licensed vaccines. The mimotopes not only immunologically mimic LOSs from NTHi and M. catarrhalis but will also bind to antibodies specific for the respective LOS. NTHi and M. catarrhalis are common pathogens that cause otitis media in children and lower respiratory tract infections in adults.

Phenylthiocarbamide (PTC) Taste Receptor

Bitter taste has evolved in mammals as a central warning signal against ingestion of poisonous or toxic compounds. However, many beneficial compounds are also bitter and taste masking of bitter tasting pharmaceutical compounds is a billion dollar industry. The diversity of compounds that elicit bitter-taste sensations is vast and more than two dozen members of the TAS2R bitter taste receptor gene family have been identified.

Haplotypes of Human Bitter Taste Receptor Genes

Bitter taste has evolved in mammals as a crucial, important warning signal against ingestion of poisonous or toxic compounds. However, many beneficial compounds are also bitter, and taste masking of bitter tasting pharmaceutical compounds is a billion dollar industry. The diversity of compounds that elicit bitter-taste sensations is very large and more than two dozen members of the T2R bitter taste receptor family have been identified. Individuals are now known to be genetically predisposed to respond or not to respond to the bitter taste of a number of substances.