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    BIOMARKERS OF DE NOVO LIPOGENESIS AND METHODS USING THE SAME
    64.
    发明授权
    BIOMARKERS OF DE NOVO LIPOGENESIS AND METHODS USING THE SAME 有权

    公开(公告)号：EP3082833B1

    公开(公告)日：2018-12-05

    申请号：EP14870759.9

    申请日：2014-12-18

    申请人： Metabolon, Inc.

    发明人： WATKINS, Steven M.

    IPC分类号： G01N33/92

    CPC分类号： G01N33/92 ,  G01N2405/00 ,  G01N2800/7085

    摘要： Biomarkers relating to de novo lipogenesis are provided, as well as methods for using such biomarkers in an Index to assess DNL. In addition, methods for diagnosing, determining predisposition to, and monitoring progression/regression of diseases related to DNL are provided. Also provided are methods of monitoring the efficacy of treatments for diseases related to DNL as well as other methods based on biomarkers of DNL.

    SYSTEM, METHOD AND APPARATUS FOR DETERMINING THE EFFECT OF GENETIC VARIANTS
    67.
    发明公开
    SYSTEM, METHOD AND APPARATUS FOR DETERMINING THE EFFECT OF GENETIC VARIANTS 审中-公开

    公开(公告)号：EP3215633A4

    公开(公告)日：2018-04-11

    申请号：EP15856657

    申请日：2015-11-04

    申请人： METABOLON INC

    发明人： LONERGAN SHAUN ,  RYALS JOHN A ,  MILBURN MICHAEL V ,  KENNEDY ADAM ,  GUO LINING ,  LAWTON KAY A

    IPC分类号： C12Q1/06 ,  G01N31/00 ,  G01N33/48

    CPC分类号： G01N33/50 ,  G01N2570/00 ,  G06F19/18

    摘要： Methods using a combination of metabolomics and computer technology to determine sequence variants with potential negative or detrimental effects and enable the classification of a variant with an unknown or uncertain clinical significance from VUS status to benign, pathogenic or advantageous are described. For example, methods of using metabolomics to expedite personalized medicine based on genomic sequence analysis are described. Using metabolic profiles to determine (or aid in determining) the significance of genetic variants and enable the identification of diagnostic variants (those variants having a detrimental health affect) for use in personalized medicine is described. Further, using metabolic profiles to determine the presence of advantageous variants that may have a positive effect on patient health is also described.

    SMALL MOLECULE BIOCHEMICAL PROFILING OF INDIVIDUAL SUBJECTS FOR DISEASE DIAGNOSIS AND HEALTH ASSESSMENT
    69.
    发明公开
    SMALL MOLECULE BIOCHEMICAL PROFILING OF INDIVIDUAL SUBJECTS FOR DISEASE DIAGNOSIS AND HEALTH ASSESSMENT 审中-公开
    用于疾病诊断和健康评价人的小分子生化PROFILING

    公开(公告)号：EP3129909A1

    公开(公告)日：2017-02-15

    申请号：EP15721065.9

    申请日：2015-04-08

    申请人： Metabolon, Inc.

    发明人： MILBURN, Michael V. ,  RYALS, John A. ,  GUO, Lining ,  ECKHART, Andrea ,  WULFF, Jacob ,  KENNEDY, Adam D. ,  JÖNSSON, Thomas J. ,  MICHALEK, Ryan Douglas ,  WITTMANN, Bryan ,  MITCHELL, Matthew

    IPC分类号： G06F19/28 ,  G01N33/50

    摘要： Methods and systems are described herein for small molecule biochemical profiling of an individual subject for diagnosis of a disease or disorder, facilitating diagnosis of a disease or disorder, and/or identifying an increased risk of developing a disease or disorder in the individual subject. Aberrant levels of small molecules present in a sample from an individual subject are identified and diagnostic information relevant to the individual subject is obtained based on the identified aberrant levels. The obtained diagnostic information includes one or more of an identification of at least one biochemical pathway associated with the identified subset of the small molecules having aberrant levels, an identification at least one disease or disorder associated with the identified subset of the small molecules having aberrant levels, and an identification of at least one recommended follow up test associated with the identified subset of the small molecules having aberrant levels.

    摘要翻译： 方法描述在用于疾病或病症的诊断的个体对象的小分子生物化学分析，促进疾病或病症的诊断和/或确定在显影个体受试者的疾病或病症的风险增加。 从在个体对象存在于样品中的小分子的异常水平被识别和相关的个体对象的诊断信息是基于所识别的异常水平得到。 所获得的诊断信息包括一个或多个与具有异常水平的小分子的识别的子集相关联的至少一个生化途径的标识，来识别与具有异常水平的小分子的识别的子集相关联的至少一种疾病或病症 ，并在与具有异常水平的小分子的所识别的子集相关联的至少一个推荐的后续测试的标识。

    BIOMARKERS OF DE NOVO LIPOGENESIS AND METHODS USING THE SAME
    70.
    发明公开
    BIOMARKERS OF DE NOVO LIPOGENESIS AND METHODS USING THE SAME 有权
    生物标记脂肪酸从头合成和程序

    公开(公告)号：EP3082833A1

    公开(公告)日：2016-10-26

    申请号：EP14870759.9

    申请日：2014-12-18

    申请人： Metabolon, Inc.

    发明人： WATKINS, Steven M.

    IPC分类号： A61K35/60 ,  A61P35/04 ,  G01N33/50

    CPC分类号： G01N33/92 ,  G01N2405/00 ,  G01N2800/7085

    摘要： Biomarkers relating to de novo lipogenesis are provided, as well as methods for using such biomarkers in an Index to assess DNL. In addition, methods for diagnosing, determining predisposition to, and monitoring progression/regression of diseases related to DNL are provided. Also provided are methods of monitoring the efficacy of treatments for diseases related to DNL as well as other methods based on biomarkers of DNL.