Abstract: This application describes the discovery that, in a pregnant woman, certain genes (such as RASSF1A, APC, CASP8, RARB, SCGB3A1, DAB2IP, PTPN6, THY1, TMEFF2, and PYCARD) originated from a fetus are highly methylated, whereas the same genes of maternal origin are unmethylated. This discovery allows the easy detection of one or more of these methylated fetal genes in a biological sample from a pregnant woman, serving as a universal indicator of the presence of fetal DNA in the sample. These fetal methylation markers are particularly useful as positive controls for a non-invasive analytical process during which the quality and quantity of fetal DNA are monitored. These newly identified fetal markers can also be measured directly for diagnosis of certain pregnancy-related conditions.
Type:
Grant
Filed:
September 14, 2012
Date of Patent:
January 6, 2015
Assignee:
The Chinese University of Hong Kong
Inventors:
Yuk-Ming Dennis Lo, Rossa Wai Kwun Chiu, Stephen Siu Chung Chim, Chunming Ding, Kwan Chee Chan, Hing Nam Ivy Wong, Ka Chun Ryan Yuen
Abstract: The present invention concerns the use of methods for evaluating bucindolol treatment for a patient, particularly one with heart failure. It concerns methods for determining whether to administer or prescribe bucindolol to a patient based on whether the patient is homozygous for the Arg 389 polymorphism in the ?1-adrenergic receptor (AR).
Type:
Grant
Filed:
December 1, 2011
Date of Patent:
December 23, 2014
Assignee:
The Regents of the University of Colorado, A Body Corporate
Abstract: The present invention relates to the diagnosis and treatment of cancer, and in particular breast cancer. Specifically, in some embodiments the invention relates to methods of diagnosing cancer, and in particular breast cancer, using an antibody specific for a gene product that localizes selectively to the endoplasmic reticulum of the cancer cell(s). In some embodiments, the invention relates to methods of treating cancer, and in particular breast cancer, by administering a composition comprising an RNA interference sequence (e.g., shRNA, RNAi and/or siRNA molecule) characterized by an ability to inhibit an mRNA molecule, which mRNA molecule is encoded by the C43 gene (SEQ ID NO: 1). The invention additionally relates to methods for detecting cancer cells by detecting reduced methylation of the C43 promoter, and methods for reducing cancer metastasis by using demethylation inhibitors that result in increased methylation of the C43 promoter.
Type:
Grant
Filed:
July 20, 2009
Date of Patent:
December 2, 2014
Assignee:
The Research Foundation for the State University of New York
Abstract: Disclosed are methods of identifying a genetic variant in a person determined to have or be predisposed having a fatty liver by determining whether the person has PNPLA3-I148M. Also disclosed are methods of identifying a genetic variant in a person by determining whether the person has PNPLA3-I148M; and prescribing to the person a treatment to reduce liver fat or associated inflammation.
Type:
Grant
Filed:
November 26, 2012
Date of Patent:
July 22, 2014
Assignee:
Board of Regents, The University of Texas System
Abstract: There is provided a method for detecting M. genitalium nucleic acid in a sample, comprising: (i) amplifying a nucleic acid sequence comprising a fragment of SEQ ID NO: 1 (Mg219 gene); and (ii) detecting said amplified nucleic acid sequence.
Abstract: Methods and compositions for providing a prognosis or diagnosis for a human patient having renal cell cancer are provided. The method relates to the discovery of SNPs which are associated with a favorable prognosis and response to therapy in RCC.
Type:
Grant
Filed:
October 8, 2009
Date of Patent:
July 15, 2014
Assignee:
The Regents of the University of California
Abstract: The invention provides a method of diagnosing a disease or a predisposition to contract a disease by assaying for mutations of uromodulin (UMOD) within a test subject or patient. The presence of a mutation in the UMOD supports a diagnosis of a disease or a predisposition to contract a disease within the patient.
Type:
Grant
Filed:
July 26, 2010
Date of Patent:
June 24, 2014
Assignees:
University of Pittsburgh—Of the Commonwealth System of Higher Education, Wake Forest University
Inventors:
Thomas C. Hart, Patricia Suzanne Hart, Michael Gorry, Anthony J. Bleyer
Abstract: The present invention identifies and quantifies changes in gene expression associated with non-small cell lung cancer NSCLC by examining gene expression in tissue from normal lung and diseased lung. The present invention also identifies and quantifies expression profiles which serve as useful diagnostic markers as well as markers that are useful to monitor disease states, disease progression, drug toxicity, drug efficacy and drug metabolism.
Type:
Grant
Filed:
March 27, 2003
Date of Patent:
May 13, 2014
Assignee:
University of Toledo
Inventors:
Jeffrey P. Demuth, Erin L. Crawford, James C. Willey, David A. Weaver, Kristy A. Warner, Timothy G. Graves
Abstract: Newly discovered alternative transcripts of the KLK8 gene encoding kallikrein 8, NT5 and NT6. The sequence of NT5 is set forth in SEQ ID NO:7, and the sequence of NT6 is set forth in SEQ ID NO:8.
Abstract: The present invention is directed to in situ methods for providing a definitive haplotype of a subject. The haplotype information generated by the methods described herein is more accurate than that provided by prior art methods that only give an inferred haplotype. Accordingly, in one aspect the present invention provides an in situ method for obtaining genetic information for a polyploid subject, the method including the steps of obtaining a biological sample from the subject, the sample containing: (i) at least one paternally-derived DNA molecule, and/or (ii) at least one maternally-derived DNA molecule, analyzing any one or more of the paternally- or maternally-derived DNA molecules for nucleotide sequence information, wherein the step of analyzing determines whether any two DNA markers are present in cis on one chromosome, or in trans across two sister chromosomes.
Abstract: The invention pertains to certain genetic variants on Chr5p12 and Chr10q26 as susceptibility variants of breast cancer. Methods of disease management, including diagnosing increased and/or decreased susceptibility to breast cancer, methods of predicting response to therapy and methods of predicting prognosis using such variants are described. The invention further relates to kits useful in the methods of the invention.
Type:
Grant
Filed:
May 21, 2008
Date of Patent:
November 12, 2013
Assignee:
deCODE Genetics ehf.
Inventors:
Simon Stacey, Patrick Sulem, Andrei Manolescu
Abstract: Methods and materials for detection of aneuploidy and other chromosomal abnormalities using fetal tissue are disclosed. Results can be obtained rapidly, without cell culture. The method uses digital PCR for amplification and detection of single target sequences, allowing an accurate count of a specific chromosome or chromosomal region. Specific polynucleic acid primers and probes are disclosed for chromosomes 1, 13, 18, 21, X and Y. These polynucleic acid sequences are chosen to be essentially invariant between individuals, so the test is not dependent on sequence differences between fetus and mother.
Type:
Grant
Filed:
December 22, 2009
Date of Patent:
November 5, 2013
Assignee:
The Board of Trustees of the Leland Stanford Junior University
Inventors:
Hei-Mun Christina Fan, Stephen R. Quake
Abstract: This document relates to methods and materials for using nucleic acid and amino acid sequence variants of ribonucleic acid binding motif protein 20 (RBM20). For example, methods and materials for using nucleic acid sequence variants and/or their corresponding amino acid variants of RBM20 that are associated with dilated cardiomyopathy to identify mammals (e.g., humans) at risk of having dilated cardiomyopathy that is likely to progress to heart failure are provided.
Type:
Grant
Filed:
May 11, 2011
Date of Patent:
October 22, 2013
Assignee:
Mayo Foundation for Medical Education and Research
Abstract: The present invention provides methods for assessing a genetic susceptibility to cancer in a subject which includes measuring allele specific expression or presence of at-risk haplotypes of TGFBR1, where a difference in expression or the presence of at-risk haplotypes is indicative of a cancer or susceptibility to a cancer. Methods to screen for agents that modify expression of TGRBR1 are also provided.
Abstract: A method for the in vitro diagnosis of bronchopulmonary carcinoma, in particular of non-small cell bronchial carcinoma, that includes a stage of detecting, in a biological sample derived from a patient suspected to be suffering from bronchopulmonary carcinoma, at least one of the major alternative transcripts of the KLK8 gene encoding kallikrein 8. This method is particularly useful for the survival prognostication of patients suffering from bronchopulmonary carcinoma.
Abstract: The present invention is related to the novel discovery of a number of genes that were identified as systemic markers of pulmonary inflammation. This discovery allows for development of a novel tool for reliable, rapid and efficient assessment of therapeutic responses and enables design of novel therapies targeted against diseases associated with pulmonary inflammation. In one embodiment, the present invention allows quantification of therapeutic response in patients who have a disease associated with pulmonary inflammation. In preferred embodiments, the genes are CD64, ADAM9, CD36, IL32, HPSE, PLXND1, HCA 112, CSPG2, TLR2, and CD163.