This technology includes a new reagent, termed bivalent Tn5 complex, and applied it to mapping genome-wide enhancer-promoter interactions to be utilized for disease diagnostics. Chromatin structure is critical for regulating transcription in normal development and disease states. In particular, the interaction between enhancers and promotes are essential for the temporospatial control of gene expression.

This technology includes a device to close a hole in the wall of a large blood vessel or cardiac chamber from the inside out, delivered over a guidewire and through a catheter or sheath. First, the proximal portion deploys within the vessel or chamber and is advanced over a guidewire to oppose the wall and seal the hole. Second, the distal portion self-assembles outside the vessel or chamber upon withdrawal of the guidewire. Deployment of the distal portion anchors the device securely in place.

This technology includes a catheter design to be used for cardiovascular procedures. This catheter has intrinsic freedom from MRI heating by segmenting and insulating the braiding material, yet that retains most of the mechanical properties of a braided catheter aligning the segment interruptions out-of-phase with each other.

This technology includes a catheter-delivered endograft designed to treat congenital heart disease without surgery. The specific surgical procedure averted is cavopulmonary bypass graft. The key innovations are features to effect distal end-to-side anastomosis and proximal end-to-end anastomosis without surgery. The system operates under X-ray and MRI guidance.

This technology includes the creation of DLX3-floxed mice, specifically designed for conditional deletion of the DLX3 gene via Cre-mediated recombination. This innovative approach aims to develop mouse models for studying ectodermal dysplasia disorders. Ectodermal dysplasias are a diverse group of genetic conditions affecting the development of ectodermal structures, including hair, teeth, and bones. The DLX3f/f mice are particularly valuable for modeling specific disorders such as Tricho-dento-osseous syndrome (TDO), Amelogenesis Imperfecta (AI), and Dentinogenesis Imperfecta (DI).

This technology includes K14creDLX3 conditional knockout (cKO) mice which will be used to study ectodermal dysplasia disorders such as Amelogenesis Imperfecta, and to study molecular mechanisms of DLX3 regulation in skin and ectodermal appendages. DLX3 is expressed in the epidermis, hair matrix cells in the hair follicle and in the mesenchymal and epithelial compartment of the tooth during embryonic development. To determine the transcriptional network dependent on DLX3-function, we will generate and analyze an epithelial-specific conditional knockout of DLX3.

This technology includes a mouse model of Pompe disease, created by targeted inactivation of the acid alpha-glucosidase gene, to test novel therapies. Pompe disease is a severe muscle disorder that affects people at any age. It is a rare genetic disease caused by a deficiency of a lysosomal enzyme acid alpha-glucosidase. The enzyme degrades glycogen to glucose in the lysosomes. The deficiency leads to accumulation of glycogen in multiple organs, but cardiac and skeletal muscles are most severely affected.

This technology includes a mouse monoclonal antibody that recognizes the phosphorylated form of the FceRiy which could be used as a diagnostic tool during allergic reactions. The FcERI is central to the activation of mast cells and basophils and activation of this receptor induces these cells to secrete mediators that cause allergic symptoms. This antibody specifically recognizes the phosphorylated tyrosine 47 (Y 47) of the FceRiy. Phosphorylation of this site Indicates that this receptor is in an active state and thus the cells can secrete allergic mediators.

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.

This technology includes the development of a mouse line capable of producing single-chain antibodies (nanobodies). Nanobodies, identified initially from Camelidae (including llamas and camels) but also found in cartilaginous fish, consist of a single variable heavy chain domain (VHH) that binds to specific epitopes. Nanobodies have equivalent binding specificity to antigens as antibodies but are more heat- and detergent-stable.