Generation of Gene Specific Targeting Donor Plasmid (p5KI-GP-CHN and p3KI-GP-CHN)

This technology includes the use of engineered human induced pluripotent stem cells (iPSCs) for various applications such as studying cell differentiation, drug screening, and gene transfer therapy. It employs gene targeting donors flanked by DNA sequences compatible with endogenous loci to integrate transgenes through homologous recombination. A key aspect is the flexible gene targeting donor design, used in conjunction with safe harbor transcription activator-like effector nucleases (TALENs).

Generation of Safe-harbor Gene Targeting Donor Plasmids

This technology includes two safe harbor gene targeting donors, specifically designed for applications in the study of induced pluripotent stem cells (iPSC). These include the pAAVS1D-CMV.RFP-EF1a.copGFPpuro and pAAVS1-iCLHN donors. A key feature of these donors is their ability to integrate various transgenes into specific loci through homologous recombination, facilitated by sequences homologous to safe harbor loci. When paired with TALENs targeting these loci, these plasmids enable precise and efficient genome engineering in human cells.

Generation of AAVS1 and C13 “Safe Harbor” Transcription Activator-life Effector Nucleases (TALENs) for Drug Screening or Gene Therapy Development

This technology includes AAVS1 and C13 “safe harbor” transcription activator-life effector nucleases (TALENs) for drug screening or gene therapy applications. TALENs are engineered sequence-specific DNA endonucleases that can significantly enhance genome-editing efficiency by >100-1000 folds. “Safe harbor” such as AAVS1 safe harbor and C13 safe harbor is genome locus that allows robust and persistent transgene expression with no or minimal interference of endogenous gene expression and cell properties.

Mouse Models of Cryopyrin-Associated Periodic Syndrome (CAPS) for Drug Discovery

This technology includes mouse models that express versions of mouse cryopyrin protein containing mutations associated with human CAPS disease. We engineered mutations associated with three specific CAPS phenotypes (familial cold autoinflammatory syndrome (FCAS); Muckle-Wells syndrome (MWS); and neonatal onset multisystem inflammatory disease (NOMID)) into the mouse cryopyrin gene (called Nlrp3) to examine the roles of IL-1 β and related cytokines, and better characterize inflammasome functions.

Treatment for Ichthyosiform Skin Diseases

A synthetic composition that contains the transglutaminase 1 (TGase I) enzyme and a lipid vesicle, which can be used to provide ameliorative therapy for inherited autosomal recessive ichthyoses (ARI). Icthyoses are rare inherited skin disorders that result in extensive scaling of the skin. Because this abnormality can affect heat and fluid transfer through the skin, individuals with this disease may have an increased risk for dehydration and skin infections. Each year, more than 16,000 babies are born with some form of ichthyosis. Ichthyosis affects people of all ages, races and gender.

Quantitative Measurement of Syndesmophytes in Ankylosing Spondylitis Using Computed Tomography (CT)

Syndesmophyte (abnormal bone) growth in the spine is a hallmark of Ankylosing Spondylitis, a type of inflammatory arthritis. Syndesmophyte growth is currently monitored using semi-quantitative scoring of radiographs, but radiographs consider only a small part of the vertebra, and the method is subject to reader error. Because syndesmophytes grow slowly, radiographs also lack sensitivity. The invention provides a method to measure syndesmophytes using data from computed tomography scans of the lumbar spine.

TL1A Transgenic Mice for the Study of Inflammatory Bowel Disease (IBD) and Allergic-Type Immune Responses

TL1A is a TNF family cytokine that co-stimulates T-cell proliferation and cytokine production through its interactions with the TNF family receptor DR3. TL1A-DR3 interactions have been shown to be important for the development of autoimmune inflammatory diseases, including inflammatory bowel disease (IBD).

Image Analysis Software for Quantitative Evaluation of Striation Patterns and their Defects in Skeletal Muscles

Available for licensing is software written in MatLab for evaluating striation patters in images of skeletal muscle fibers for better sensitivity in the quantitation of skeletal muscle disorders. Skeletal muscles have a regular, periodic organization (the periodicity of the sarcomeres), which is not only structural but also functional. Muscle pathologies create disorder in the normally periodic myofibrils. Objective grading of muscle morphology is necessary to assess muscle health, compare biopsies, and evaluate treatments and the evolution of disease.

Compositions for Modification of Genomic DNA and Exogenous Gene Expression

A novel method of targeted insertion of transgenes at CLYBL locus directly in human cells is disclosed. Also, methods and compositions for increasing targeted insertion of a transgene into a specific location within the cell or increasing the frequency of gene modification in a targeted locus are disclosed. Genome modification by precise gene targeting at specific sequence/locus has great advantages over conventional transient expression or random integration methodologies and, therefore, has tremendous therapeutic potential.
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