112 results about "Genome human" patented technology

Some aspects of this disclosure provide strategies, systems, reagents, methods, and kits that are useful for the targeted editing of nucleic acids, including editing a nucleic acid encoding a mutant α-antitrypsin protein to correct a point mutation associated with a disease or disorder, e.g., with chronic obstructive pulmonary disease (COPD) disease. The methods provided are useful for correcting an α-antitrypsin point mutation within the genome of a cell or subject, e.g., within the human genome. In some embodiments, fusion proteins of Cas9 and nucleic acid editing enzymes or enzyme domains, e.g., deaminase domains, are provided. In some embodiments, reagents and kits for the generation of targeted nucleic acid editing proteins, e.g., fusion proteins of Cas9 and nucleic acid editing enzymes or domains, are provided.

Alterations in the genetic content of a cell underlie many human diseases, including cancers. A method called Digital Karyotyping provides quantitative analysis of DNA copy number at high resolution. This approach involves the isolation and enumeration of short sequence tags from specific genomic loci. Analysis of human cancer cells using this method identified gross chromosomal changes as well as amplifications and deletions, including regions not previously known to be altered. Foreign DNA sequences not present in the normal human genome could also be readily identified. Digital Karyotyping provides a broadly applicable means for systematic detection of DNA copy number changes on a genomic scale.

Methods and devices are described for the regulation of Transforming Growth actor (TGF)-β1, β2, and / or β3 protein gene expression in bone cells and other tissues via the capacitive coupling or inductive coupling of specific and selective electric fields to the bone cells or other tissues, where the specific and selective electric fields are generated by application of specific and selective electric and electromagnetic signals to electrodes or one or more coils or other field generating device disposed with respect to the bone cells or other tissues so as to facilitate the treatment of diseased or injured bone and other tissues. By gene expression is meant the up-regulation or down-regulation of the process whereby specific portions (genes) of the human genome (DNA) are transcribed into mRNA and subsequently translated into protein. Methods and devices are provided for the targeted treatment of injured or diseased bone and other tissue that include generating specific and selective electric and electromagnetic signals that generate fields in the target tissue optimized for increase of TGF-β1, β2, and / or β3 protein gene expression and exposing bone and other tissue to the fields generated by specific and selective signals so as to regulate TGF-β1, β2, and / or β3 protein gene expression in such tissue. The resulting methods and devices are useful for the targeted treatment of bone fractures, fractures at risk, delayed unions, nonunion of fractures, bone defects, spine fusions, osteonecrosis or avascular necrosis, as an adjunct to other therapies in the treatment of one or all of the above, in the treatment of osteoporosis, and in other conditions in which TGF-β1, β2, and / or β3 protein may be implicated.

Rationally-designed LAGLIDADG meganucleases and methods of making such meganucleases are provided. In addition, methods are provided for using the meganucleases to generate recombinant cells and organisms having a desired DNA sequence inserted into a limited number of loci within the genome, as well as methods of gene therapy, for treatment of pathogenic infections, and for in vitro applications in diagnostics and research.

The invention relates to a gene panel used for detecting breast cancer gene mutation, and a detection method and application of the gene panel. The panel disclosed by the invention comprises 54419 pieces of targeted DNA (deoxyribonucleic acid) probes. The targeted DNA comprises the exon regions of 445 pieces of genes on the human genomes, 2573 pieces of MSI (microsatellite instability) sites and 566 position intervals used for detecting gene fusion. The detection method in the invention can be used for detecting SNV (single nucleotide variation), Indel (Insertion and Deletion), CNV (Copy Number Variation), Fusion, MSI, TMB (Tumor Mutational Burden), HLA (human leucocyte antigen) parting and the like of a tumor somatic cell multi-site DNA mutation. An optimal individual treatment medicine and scheme can be conveniently selected according to the genome features of patients in a breast cancer immunotherapy process.

Methods and devices for the regulation of aggrecan gene expression in cartilage cells via the application of fields generated by specific and selective electric and electromagnetic signals in the treatment of diseased or injured articular cartilage. By gene expression is meant the up regulation or down regulation of the process whereby specific portions (genes) of the human genome (DNA) are transcribed into mRNA and subsequently translated into protein. Methods and devices are provided for the targeted treatment of injured or diseased cartilage tissue that include generating specific and selective electric and electromagnetic signals that generate fields optimized for aggrecan gene expression and exposing cartilage tissue to the fields generated by specific and selective signals so as to regulate aggrecan gene expression in such cartilage tissue. The resulting methods and devices are useful for the targeted treatment of osteoarthritis, rheumatoid arthritis, cartilage injury, and cartilage defects.

This invention relates to methodologies that detect global changes in the methylation of human genomic DNA as well as changes in methylation in specific regions of the human genome. The methodologies have utility in the diagnosis, prognosis and monitoring of therapeutic treatment for any human disease. Further, the invention relates to methodologies that can detect global changes in the methylation of human genomic DNA that is a consequence of diet and / or dietary supplements. The invention also relates to identifying novel DNA methylation biomarkers that are associated with human disease.

The invention discloses a thalassemia gene detection method based on a high-throughput sequencing technology. The thalassemia gene detection method mainly comprises the following steps that alpha & beta-thalassemia related gene fragments are specifically amplified based on PCR amplification primers of a span breakpoint and a mutation site designed by adopting a Gap-PCR method, library establishment is conducted on PCR products, library products are subjected to high-throughput sequencing, sequencing data uses a human genome hg19 as a reference sequence, sequencing depth values of gene loci in a target area chr16: 215000-236000 are analyzed according to a sequence alignment score Q10, and alpha-thalassemia deletion types are determined according to the distribution of the sequencing depth values of different loci; meanwhile sequence alignment is performed through the target area chr16: 215000-236000 and a target area chr16: 5246400-5248600, and alpha & beta-thalassemia mutation types are determined according to the basic types of specific sites. By the adoption of the thalassemia gene detection method, simultaneous detection of 6 mutation genetypes of alpha-thalassemia and 26 mutation genetypes of beta-thalassemia can be achieved.

A system and method for reducing the likelihood of colorectal cancer in a human being includes the modification of an individual's gut microbes by employing a Clustered Regularly Interspaced Short Palindromic Repeats-CRISPR-associated system (CRISPR-Cas) or Clustered Regularly Interspaced Short Palindromic Repeats from Prevotella and Francisella 1 (CRISPR / Cpf1) system to modify only bacterial genes of bacteria that reside in the human gut that are non-homologous to those encompassed in the human genome, and in particular, to administer a therapeutically effective amount of a bacterial formulation comprising F. prausnitzii that has been modified to produce one of alliin or butyrate.

The invention discloses a liver echinococcus gene segment screening method, an amplification primer and a kit.The screening method comprises the following steps: eliminating an influence of a human genome and a close genetic relationship tapeworm group genome from whole genomes of echinococcus granulosus and echinococcus multilocularis; and screening to obtain a third echinococcus granulosus gene segment, a third echinococcus multilocularis gene segment and a common gene segment, and designing three types of amplification primers by using three types of the gene segments respectively. A primer pair group for detecting echinococcosis of human tissues is obtained by further screening and a kit and a use method of the kit are provided based on the primer pair group. False positive results caused by human genes or close genetic relationship tapeworm genes existing in to-be-detected tissue DNA is avoided from the source, the to-be-detected DNA aiming at the primer during design is a human tissue sample, the false negative results in clinical detection are remarkably reduced, specific primers have higher accuracy and higher specificity, and clinical use effects of the primer pair and the kit are obviously enhanced.

Methods and devices are described for the regulation of Fibroblastic Growth Factor-2 mRNA and / or FGF-2 protein in bone cells and other tissues via capacitive coupling or inductive coupling of specific and selective electric and / or electromagnetic fields to the bone cells or other tissues, where the specific and selective fields are generated by application of specific and selective signals to electrodes or one or more coils or other field generating device disposed with respect to the bone cells or other tissues so as to facilitate the treatment of diseased or injured bone and other tissues. By gene expression is meant the up-regulation or down-regulation of the process whereby specific portions (genes) of the human genome (DNA) are transcribed into mRNA and subsequently translated into protein. Methods and devices are provided for the targeted treatment of injured or diseased bone and other tissue that include generating specific and selective signals that generate electric and / or electromagnetic fields in the target tissue optimized for increase of FGF-2 protein gene expression and exposing bone and other tissue to the fields generated by specific and selective signals so as to regulate FGF-2 protein gene expression in such tissue. The resulting methods and devices are useful for the targeted treatment of osteoporosis, osteopenia, osteonecrosis, fresh bone fractures, fractures at risk, nonunion, bone defects, spine fusion, and / or other conditions in which FGF-2 protein has been implicated.

After the sequencing of the human genome, great interest has developed in trying to discern the complementary proteome of humans and other species. The present disclosure provides devices, systems, and methods for proteomic fractionation that may increase the number of protein spots visualized by 2DE analysis, and may allow enrichment of proteins normally not detectable by standard 2DE analysis. According to some embodiments of the disclosure, devices, systems, and methods of the disclosure relate to fractionating a proteome on the basis of surface charge, hydrophobicity, isoelectric point and / or size.

High throughput sequencing has facilitated a precipitous drop in the cost of whole genome human DNA sequencing, prompting predictions of a revolution in medicine via personalization of diagnostic and therapeutic strategies to individual genetics. Disclosed is a comprehensive series of methods for identification of genetic variants and medical genotypes, phasing genetic data and using Mendelian inheritance for quality control, and providing predictive genetic information about risk for rare disease phenotypes and response to pharmacological therapy in single individuals and father-mother-child trios.