Single cell profiling of chromatin Occupancy and RNAs Sequencing (scPCOR-seq)

Cell-to-cell heterogeneity in gene expression is a widespread phenomenon, and may play important roles in cellular differentiation, function and disease development. Human Cell Atlas aims to profile gene expression in every single human cells. Recent studies have implicated a potential role of chromatin in the heterogeneity in gene expression. Understanding the mechanisms of cellular heterogeneity requires simultaneous measurement of RNA and occupancy of histone modifications and transcription factors on chromatin due to their critical roles in transcriptional regulation.

A Novel Therapy/Companion Diagnostic (BAM15 And mtDNA) for Sepsis and Sepsis-induced Acute Kidney Injury

This technology includes a therapy and companion diagnostic which can be used for the early diagnosis and treatment of sepsis and sepsis-induced acute kidney injury (AKI). Mitochondrial damage plays a key role in sepsis-induced acute kidney injury BAM15 [2-ftuorophenyl){6-[(2- fluorophenyl)am ino]{1 ,2,5-oxadiazolo[3,4-e]pyrazin-5-yl)}amine] is a mitochondrial uncoupler that protects mitochondria with more specificity and less cytotoxicity than other uncouplers. Mitochondrial DNA (mtDNA) is a damage associated molecular pattern that is increased in human sepsis.

Modulating Autophagy as a Treatment for Lysosomal Storage Diseases

Researchers at NIAMS have developed a technology for treatment of lysosomal storage diseases by inhibition of autophagy. Pompe disease is an example of a genetic lysosomal storage disease caused by a reduction or absence of acid alpha-glucosidase (GAA). Patients with Pompe disease have a lysosomal buildup of glycogen in cardiac and skeletal muscle cells and severe cardiomyopathy and skeletal muscle myopathy. Treatment of Pompe disease by GAA enzyme replacement therapy is quite ineffective for the skeletal muscle myopathy.

Identification of a Novel Parvovirus for Vaccine Development and Use as a Diagnostic Tool

This technology includes a procedure for novel virus identification in a variety of human specimens by solexa high-throughput sequencing, which allows for the screening a large number of clinical specimens for novel virus discovery in a highly efficient and relatively economical method. By using this technique, we have successfully identified a novel parvovirus from samples of seronegative hepatitis patients.

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.

Novel Methods for Reducing Inflammation and Treating Diseases such as Parkinson's and Alzheimer's Disease

Microglia activation leads to inflammation mediated dopaminergic degeneration in the brain of patients with Parkinson and Alzheimer's Disease. Thus Identification of drugs that reduce microglia activation could prevent or reverse neuronal degeneration in these diseases and other degenerative CNS disorders.

ApoA-1 Mimetic Peptides Promoting Lipid Efflux from Cells for Treatment of Vascular Disorders

This invention involves ApoA-1 mimetic peptides with multiple amphipathic alpha-helical domains that promote lipid efflux from cells and are useful in the treatment and prevention of dyslipidemic, inflammatory and vascular disorders. IND-enabling studies for one of the peptides, named Fx-5A, are completed in preparation for an IND filing at the FDA, to be followed by a Phase I clinical trial planned for 2017.

Selections of Genes

The invention provides selections of genes expressed in a cancer cell that function to characterize such cancer, and methods of using the same for diagnosis and for targeting the therapy of selected cancers. In particular, methods are provided to classify cancers belonging to distinct diagnostic categories, which often present diagnostic dilemmas in clinical practice, such as the small round blue cell tumors (SRBCTs) of childhood, including neuroblastoma (NB), rhabdomyosarcoma RMS), Burkitt’s lymphoma (BL), and the Ewing family of tumors (EWS).

Tyrosyl-DNA Phosphodiesterases (TDP) and Related Polypeptides, Nucleic Acids, Vectors, TDP-Producing Host Cell, Antibodies and Methods of Use

Topisomerases are cellular enzymes that are vital for replication of the genome. However, if topisomerase and DNA form covalent complexes that prevent the resealing of DNA, this may lead to cell death. Essentially, this invention consists of a new isolated and cloned enzyme, tyrosyl-DNA phospodiesterase (TDP1) that is capable of hydrolyzing the covalent complexes between topisomerase and DNA, allowing the DNA to reseal.
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