Patent application number | Description | Published |
20090286687 | Method and Compositions for Detection and Enumeration of Genetic Variations - Many areas of biomedical research depend on the analysis of uncommon variations in individual genes or transcripts. Here we describe a method that can quantify such variation at a scale and ease heretofore unattainable. Each DNA molecule in a collection of such molecules is converted into a single particle to which thousands of copies of DNA identical in sequence to the original are bound. This population of beads then corresponds to a one-to-one representation of the starting DNA molecules. Variation within the original population of DNA molecules can then be simply assessed by counting fluorescently-labeled particles via flow cytometry. Millions of individual DNA molecules can be assessed in this fashion with standard laboratory equipment. Moreover, specific variants can be isolated by flow sorting and employed for further experimentation. This approach can be used for the identification and quantification of rare mutations as well as to study variations in gene sequences or transcripts in specific populations or tissues. | 11-19-2009 |
20110229479 | GENETIC ALTERATIONS IN ISOCITRATE DEHYDROGENASE AND OTHER GENES IN MALIGNANT GLIOMA - We found mutations of the R132 residue of isocitrate dehydrogenase 1 (IDH1) in the majority of grade II and III astrocytomas and oligodendrogliomas as well as in glioblastomas that develop from these lower grade lesions. Those tumors without mutations in IDH1 often had mutations at the analogous R172 residue of the closely related IDH2 gene. These findings have important implications for the pathogenesis and diagnosis of malignant gliomas. | 09-22-2011 |
20120183967 | Method and Compositions for Detection and Enumeration of Genetic Variations - Many areas of biomedical research depend on the analysis of uncommon variations in individual genes or transcripts. Here we describe a method that can quantify such variation at a scale and ease heretofore unattainable. Each DNA molecule in a collection of such molecules is converted into a single particle to which thousands of copies of DNA identical in sequence to the original are bound. This population of beads then corresponds to a one-to-one representation of the starting DNA molecules. Variation within the original population of DNA molecules can then be simply assessed by counting fluorescently-labeled particles via flow cytometry. Millions of individual DNA molecules can be assessed in this fashion with standard laboratory equipment. Moreover, specific variants can be isolated by flow sorting and employed for further experimentation. This approach can be used for the identification and quantification of rare mutations as well as to study variations in gene sequences or transcripts in specific populations or tissues. | 07-19-2012 |
20120202207 | GENETIC ALTERATIONS IN ISOCITRATE DEHYDROGENASE AND OTHER GENES IN MALIGNANT GLIOMA - We found mutations of the R132 residue of isocitrate dehydrogenase 1 (IDH1) in the majority of grade II and III astrocytomas and oligodendrogliomas as well as in glioblastomas that develop from these lower grade lesions. Those tumors without mutations in IDH1 often had mutations at the analogous R172 residue of the closely related IDH2 gene. These findings have important implications for the pathogenesis and diagnosis of malignant gliomas. | 08-09-2012 |
20130252330 | HOMOZYGOUS AND HETEROZYGOUS IDH1 GENE-DEFECTIVE HUMAN ASTROCYTOMA CELL LINES - We provide IDH1 gene-defective cell lines (e.g., IDH1R132H heterozygous and IDH1R132H homozygous) derived from dissociated human astrocytoma samples. The cells can be used alone or in combination with each other or other cell types as a tool for determining the impact of IDH1R132H on cellular biology, tumorigenesis, and metabolic profiles. The cell lines may be used to test and identify therapeutic targets and to screen for molecular therapeutic agents. | 09-26-2013 |
20130266998 | NOVEL OXIDOREDUCTASES FOR ENANTIOSELECTIVE REACTIONS - Described herein are compositions and methods for generating oxidoreductases for enantioselective reactions. Described herein are compositions and methods for generating neomorphic (R)-2-hydroxyacid dehydrogenases capable of enzymatically converting a 1-carboxy-2-ketoacid to a 1-carboxy-(R)-2-hydroxyacid, or the reverse reaction. Illustrative examples include (a) (R)-2-hydroxyadipate dehydrogenase and uses thereof for converting 2-oxoadipate to (R)-2-hydroxyadipate, or the reverse reaction; and (b) (R)-2-hydroxyglutarate dehydrogenase and uses thereof for converting 2-oxoglutarate to (R)-2-hydroxyglutarate, or the reverse reaction. Also described herein are compositions and methods for generating non-natural microbial organisms to enzymatically convert 2-oxoadipate to (E)-2-hexenedioate or adipate, or to enzymatically convert 2-oxoglutarate to (E)-2-pentenedioate or glutarate, or the respective reverse reactions. | 10-10-2013 |
20140147919 | HOMOZYGOUS AND HETEROZYGOUS IDH1 GENE-DEFECTIVE CELL LINES DERIVED FROM HUMAN COLORECTAL CELLS - IDH1 gene-defective cell lines (e.g., IDH1R132H heterozygous) have been made from a robust cell line, HCT116. The IDH1 gene-defective cell lines can be used to determine the effect of IDH1R132H on cell biology, tumorigenesis, and cellular metabolic profiles. These cell lines can be used to test potential therapeutic targets and to screen potential therapeutic agents. Kits and xenografts are also contemplated. | 05-29-2014 |
20140187764 | GENETIC ALTERATIONS IN ISOCITRATE DEHYDROGENASE AND OTHER GENES IN MALIGNANT GLIOMA - We found mutations of the R132 residue of isocitrate dehydrogenase 1 (IDH1) in the majority of grade II and III astrocytomas and oligodendrogliomas as well as in glioblastomas that develop from these lower grade lesions. Those tumors without mutations in IDH1 often had mutations at the analogous R172 residue of the closely related IDH2 gene. These findings have important implications for the pathogenesis and diagnosis of malignant gliomas. | 07-03-2014 |
20140221219 | OLIGODENDROGLIOMA DRIVE GENES - Oligodendrogliomas are the second most common malignant brain tumor in adults. These tumors often contain a chromosomal abnormality involving a pericentromeric fusion of chromosomes 1 and 19, resulting in losses of the entire short arm of the former and the long arm of the latter. To identify the molecular genetic basis for this alteration, we performed exomic sequencing of seven anaplastic oligodendrogliomas with chromosome 1p and 19q losses. Among other changes, we found that that CIC (homolog of the | 08-07-2014 |
20140356291 | IDH1-Mutated Human Glioblastoma Cell Lines and Xenografts - IDH1-mutant cell lines and xenografts (e.g., IDH1R132H heterozygous and IDH1R132H homozygous) are derived from human glioblastoma multiforme (GBM) samples. Methods use said cells and xenografts as tools for determining the impact of IDH1R132H on cancer properties including cellular morphology, tumorigenesis, DNA, apoptosis, and metabolic profiles. Methods also use these cell lines for the screening and identification of candidate therapeutic targets. | 12-04-2014 |