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    NOVEL BIOMARKER AND USES THEREOF IN DIAGNOSIS, TREATMENT OF AUTISM
    5.
    发明申请
    NOVEL BIOMARKER AND USES THEREOF IN DIAGNOSIS, TREATMENT OF AUTISM 有权
    新生物标记及其在诊断中的应用，治疗方法

    公开(公告)号：US20130267441A1

    公开(公告)日：2013-10-10

    申请号：US13994671

    申请日：2011-12-13

    申请人： Naghi Momeni ,  Bent L. Persson

    发明人： Naghi Momeni ,  Bent L. Persson

    IPC分类号： G01N33/68

    CPC分类号： G01N33/6896 ,  A61K31/17 ,  A61K31/245 ,  A61K38/55 ,  A61K38/57 ,  C07K14/472 ,  C40B20/00 ,  G01N2800/28

    摘要： A new biomarker, a peptide having sequence SSKITHRIHWESASLLR*, wherein the side chain of the C-terminal arginine denoted with the asterisk is lacking the NH2-C═NH moiety normally present in the side chain. Usefulness of the biomarker in the diagnosis of neurological and/or neuropsychiatric disorders (in particular autism) is disclosed, as well as are methods for determining the concentration of the new biomarker and antibodies directed to the new biomarker. Treatment of autism, comprising administering a complement factor I inhibitor to the subject.

    摘要翻译： 一种新的生物标志物，具有序列SSKITHRIHWESASLLR *的肽，其中用星号表示的C-末端精氨酸的侧链缺少通常存在于侧链中的NH 2 -C = NH部分。 公开了生物标志物在诊断神经和/或神经精神障碍（特别是自闭症）中的用途，以及用于确定新生物标志物的浓度和针对新的生物标志物的抗体的方法。 治疗自闭症，包括对受试者施用补体因子I抑制剂。

    METHODS TO DETECT AND QUANTIFY RNA
    6.
    发明申请
    METHODS TO DETECT AND QUANTIFY RNA 有权
    检测和定量RNA的方法

    公开(公告)号：US20120283106A1

    公开(公告)日：2012-11-08

    申请号：US13397572

    申请日：2012-02-15

    申请人： Kai WANG ,  Shile ZHANG ,  David GALAS

    发明人： Kai WANG ,  Shile ZHANG ,  David GALAS

    IPC分类号： C12Q1/68 ,  C40B20/00

    CPC分类号： C12Q1/6851 ,  C12Q1/6883 ,  C12Q2600/178 ,  C40B20/00 ,  C12Q2525/173 ,  C12Q2525/191 ,  C12Q2525/207

    摘要： Improved methods to quantitate RNA in biological or other analytical samples employ extended RNAs containing adaptors at the 5′ end and polyA sequences coupled to a tag at the 3′ end. The invention method is particularly useful in quantitating microRNAs as primers can be used that need not complement the non-conserved 3′ ends of these molecules.

    摘要翻译： 在生物或其他分析样品中定量RNA的改进方法使用在5'端含有衔接子的延伸RNA和在3'末端与标签偶联的polyA序列。 本发明方法特别可用于定量微小RNA，因为可以使用不需要补充这些分子的非保守3'末端的引物。

    Method for genetic testing of human embryos for chromosome abnormalities, segregating genetic disorders with or without a known mutation and mitochondrial disorders following in vitro fertilization (IVF), embryo culture and embryo biopsy
    7.
    发明申请
    Method for genetic testing of human embryos for chromosome abnormalities, segregating genetic disorders with or without a known mutation and mitochondrial disorders following in vitro fertilization (IVF), embryo culture and embryo biopsy 审中-公开
    用于染色体异常的人类胚胎的遗传测试方法，在体外受精（IVF），胚胎培养和胚胎活检之后分离具有或不具有已知突变和线粒体障碍的遗传疾病

    公开(公告)号：US20080085836A1

    公开(公告)日：2008-04-10

    申请号：US11903587

    申请日：2007-09-24

    申请人： William Kearns ,  Richard Leach

    发明人： William Kearns ,  Richard Leach

    IPC分类号： C40B20/00 ,  C12P19/34 ,  C40B40/06

    CPC分类号： C40B40/08 ,  C40B20/00 ,  C40B30/04

    摘要： We describe a method for interrogating the content and primary structure of DNA by microarray analyses and to provide comprehensive genetic screening and diagnostics prior to embryo transfer within an IVF setting. We will accomplish this by the following claims: 1) an optimized embryo grading system, 2) a less invasive embryo biopsy with reduced cellular contamination, 3) an optimized DNA amplification protocol for single cells, 4) identify aneuploidy and structural chromosome abnormalities using microarrays, 5) identifying sub-telomeric chromosome rearrangements, 6) a modified DNA fingerprinting protocol, 7) determine imprinting and epigenetic changes in developing embryos, 8) performing genome-wide scans to clarify/diagnose multi-factorial genetic disease and to determine genotype/haplotype patterns that may predict future disease, 9) determining single gene disorders with or without a known DNA mutation, 10) determining mtDNA mutations and/or the combination of mtDNA and genomic (nuclear) DNA aberrations that cause genetic disease.

    摘要翻译： 我们描述了一种通过微阵列分析来询问DNA的内容和一级结构的方法，并在IVF设置之前进行胚胎移植之前提供综合的遗传筛选和诊断。 我们将通过以下权利要求来实现：1）优化的胚胎分级系统，2）减少细胞污染的侵入性较小的胚胎活检3）单细胞优化的DNA扩增方案，4）使用微阵列识别非整倍体和结构染色体异常 5）识别次端粒染色体重排，6）修饰的DNA指纹图谱，7）确定发育胚胎的印记和表观遗传变化，8）进行全基因组扫描，以澄清/诊断多因子遗传病，并确定基因型/ 可以预测未来疾病的单倍型模式，9）确定具有或不具有已知DNA突变的单基因障碍，10）确定引起遗传疾病的mtDNA突变和/或mtDNA和基因组（核）DNA异常的组合。

    Biomarker and uses thereof in diagnosis, treatment of autism
    10.
    发明授权
    Biomarker and uses thereof in diagnosis, treatment of autism 有权
    生物标志物及其在诊断，治疗自闭症中的应用

    公开(公告)号：US09347956B2

    公开(公告)日：2016-05-24

    申请号：US13994671

    申请日：2011-12-13

    申请人： Naghi Momeni ,  Bengt L. Persson

    发明人： Naghi Momeni ,  Bengt L. Persson

    IPC分类号： C40B20/00 ,  G01N33/68 ,  A61K31/17 ,  A61K31/245 ,  A61K38/55 ,  A61K38/57 ,  C07K14/47

    CPC分类号： G01N33/6896 ,  A61K31/17 ,  A61K31/245 ,  A61K38/55 ,  A61K38/57 ,  C07K14/472 ,  C40B20/00 ,  G01N2800/28

    摘要： A new biomarker, a peptide having sequence SSKITHRIHWESASLLR*, wherein the side chain of the C-terminal arginine denoted with the asterisk is lacking the NH2- C═NH moiety normally present in the side chain. Usefulness of the biomarker in the diagnosis of neurological and/or neuropsychiatric disorders (in particular autism) is disclosed, as well as are methods for determining the concentration of the new biomarker and antibodies directed to the new biomarker. Treatment of autism, comprising administering a complement factor I inhibitor to the subject.

    摘要翻译： 一种新的生物标志物，具有序列SSKITHRIHWESASLLR *的肽，其中以星号表示的C-末端精氨酸的侧链缺乏通常存在于侧链中的NH 2-C≡NH部分。 公开了生物标志物在诊断神经和/或神经精神障碍（特别是自闭症）中的用途，以及用于确定新生物标志物的浓度和针对新生物标志物的抗体的方法。 治疗自闭症，包括对受试者施用补体因子I抑制剂。