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公开(公告)号：US08426130B2
公开(公告)日：2013-04-23
申请号：US12148728
申请日：2008-04-21
申请人： Dietrich A. Stephan , Eric M. Reiman , Jennifer Webster , Andreas Papassotiropoulos , Pamela Heward
发明人： Dietrich A. Stephan , Eric M. Reiman , Jennifer Webster , Christopher B. Heward , Andreas Papassotiropoulos
CPC分类号： C12Q1/6883 , A61K31/7088 , A61K31/711 , A61K31/713 , C12N15/113 , C12N2310/14 , C12Q2600/106 , C12Q2600/156 , C12Q2600/158 , C12Q2600/172
摘要： The present disclosure relates to genetic markers and methods of diagnosing and screening for late-onset Alzheimer's disease (LOAD). As such, the disclosure encompasses a whole-genome association analysis of single nucleotide polymorphisms (SNPs) of which a number are located within the GRB2-associated binding protein 2 (GAB2) gene as well as other markers associated with other genes. The disclosure identifies two novel haplotypes within the GAB2 gene, i.e., a LOAD risk-enhancing and a LOAD risk-decreasing haplotype. These haplotypes modify LOAD risk differentially in combination with APOE alleles. Further encompassed are therapeutic methods and agents of decreasing the deterioration of cells associated with LOAD.
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2.发明申请Methods of diagnosing alzheimer's disease and markers identified by set association 有权诊断阿尔茨海默病的方法和通过设定关联识别的标志物公开(公告)号：US20090249498A1
公开(公告)日：2009-10-01
申请号：US12148728
申请日：2008-04-21
申请人： Dietrich A. Stephan , Eric M. Reiman , Jennifer Webster , Christopher B. Heward , Pamela Heward , Andreas Papassotiropoulos
发明人： Dietrich A. Stephan , Eric M. Reiman , Jennifer Webster , Christopher B. Heward , Pamela Heward , Andreas Papassotiropoulos
IPC分类号： C12Q1/68 , C07H21/04 , A01K67/027 , G01N33/00
CPC分类号： C12Q1/6883 , A61K31/7088 , A61K31/711 , A61K31/713 , C12N15/113 , C12N2310/14 , C12Q2600/106 , C12Q2600/156 , C12Q2600/158 , C12Q2600/172
摘要： The present disclosure relates to genetic markers and methods of diagnosing and screening for late-onset Alzheimer's disease (LOAD). As such, the disclosure encompasses a whole-genome association analysis of single nucleotide polymorphisms (SNPs) of which a number are located within the GRB2-associated binding protein 2 (GAB2) gene as well as other markers associated with other genes. The disclosure identifies two novel haplotypes within the GAB2 gene, i.e., a LOAD risk-enhancing and a LOAD risk-decreasing haplotype. These haplotypes modify LOAD risk differentially in combination with APOE alleles. Further encompassed are therapeutic methods and agents of decreasing the deterioration of cells associated with LOAD.
摘要翻译： 本公开涉及用于诊断和筛选迟发性阿尔茨海默氏病（LOAD）的遗传标记和方法。 因此，本公开内容包括其中数量位于GRB2相关结合蛋白2（GAB2）基因内的单核苷酸多态性（SNP）以及与其他基因相关的其他标志物的全基因组关联分析。 该公开内容鉴定了GAB2基因内的两种新型单倍型，即LOAD风险增强和LOAD风险降低单体型。 这些单元型与APOE等位基因组合差异地修饰LOAD风险。 进一步包括降低与LOAD相关的细胞的恶化的治疗方法和试剂。
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公开(公告)号：US09092391B2
公开(公告)日：2015-07-28
申请号：US12516915
申请日：2007-11-30
申请人： Dietrich A. Stephan , Melissa Floren Filippone , Jennifer Wessel , Michele Cargill , Eran Halperin
发明人： Dietrich A. Stephan , Melissa Floren Filippone , Jennifer Wessel , Michele Cargill , Eran Halperin
摘要： The present invention provides methods of determining a Genetic Composite Index score by assessing the association between an individual's genotype and at least one disease or condition. The assessment comprises comparing an individual's genomic profile with a database of medically relevant genetic variations that have been established to associate with at least one disease or condition.
摘要翻译： 本发明提供了通过评估个体的基因型与至少一种疾病或病症之间的关联来确定遗传综合指数得分的方法。 评估包括将个体的基因组谱与已建立与至少一种疾病或病症相关联的医学上相关的遗传变异的数据库进行比较。
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公开(公告)号：US20100293130A1
公开(公告)日：2010-11-18
申请号：US12516915
申请日：2007-11-30
申请人： Dietrich A. Stephan , Melissa Floren Filippone , Jennifer Wessel , Michele Cargill , Eran Halperin
发明人： Dietrich A. Stephan , Melissa Floren Filippone , Jennifer Wessel , Michele Cargill , Eran Halperin
IPC分类号： G06N5/02
摘要： The present invention provides methods of determining a Genetic Composite Index score by assessing the association between an individual's genotype and at least one disease or condition. The assessment comprises comparing an individual's genomic profile with a database of medically relevant genetic variations that have been established to associate with at least one disease or condition.
摘要翻译： 本发明提供了通过评估个体的基因型与至少一种疾病或病症之间的关联来确定遗传综合指数得分的方法。 评估包括将个体的基因组谱与已建立与至少一种疾病或病症相关联的医学上相关的遗传变异的数据库进行比较。
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公开(公告)号：US20080131887A1
公开(公告)日：2008-06-05
申请号：US11781679
申请日：2007-07-23
摘要： The present invention provides methods of assessing an individual's genotype correlations by analyzing the individual's genomic profile to a database of medically relevant genetic variations that have been established to correlate to a phenotype.
摘要翻译： 本发明提供了通过将个体的基因组谱分析到已建立与表型相关的医学上相关的遗传变异的数据库来评估个体的基因型相关性的方法。
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6.发明申请Methods and Systems for Incorporating Multiple Environmental and Genetic Risk Factors 审中-公开纳入多种环境和遗传风险因素的方法与系统公开(公告)号：US20100070455A1
公开(公告)日：2010-03-18
申请号：US12558345
申请日：2009-09-11
IPC分类号： G06N5/02
CPC分类号： G16B20/00
摘要： The present disclosure provides methods and systems for incorporating multiple environmental and genetic risk factors into an individual's genomic profile. Methods include assessing the association between an individual's genotype and at least one disease or condition by incorporating multiple genetic risk factors, environmental risk factors, or a combination of both.
摘要翻译： 本公开提供了将多种环境和遗传危险因素并入个体的基因组谱中的方法和系统。 方法包括通过纳入多种遗传风险因素，环境危险因素或两者的组合来评估个体的基因型与至少一种疾病或病症之间的关联。
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公开(公告)号：US07632640B2
公开(公告)日：2009-12-15
申请号：US11007924
申请日：2004-12-08
CPC分类号： C12Q1/6879 , C12Q1/6883 , C12Q2600/156 , C12Q2600/172
摘要： The identification of a novel mutation in the testis specific Y-like gene and association of the mutation with SIDDT syndrome are disclosed. Methods for diagnosing SIDDT syndrome are disclosed. Methods for identifying compounds for use in the diagnosis and treatment of disorders associated with mutation in the TSPYL gene are also disclosed. The invention therefore provides nucleic acid sequences, genes, polypeptides, antibodies, vectors containing the gene, host cells transformed with vectors containing the gene, animal models for the disease, methods for expressing the polypeptide, genetic screening methods and kits, diagnostic methods and kits.
摘要翻译： 公开了睾丸特异性Y-样基因中的新突变的鉴定和突变与SIDDT综合征的关联。 公开了诊断SIDDT综合征的方法。 还公开了用于鉴定用于诊断和治疗与TSPYL基因突变相关疾病的化合物的方法。 因此，本发明提供核酸序列，基因，多肽，抗体，含有该基因的载体，用含该基因的载体转化的宿主细胞，用于该疾病的动物模型，表达多肽的方法，遗传筛选方法和试剂盒，诊断方法和试剂盒 。
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