Patent application number | Description | Published |
20080213765 | Human Autism Susceptibility Genes Encoding a Neurotransmitter Transporter and Uses Thereof - The present invention discloses the identification of a human autism susceptibility gene, which can be used for the diagnosis, prevention and treatment of autism and related disorders, as well as for the screening of therapeutically active drugs. The invention more specifically discloses that the SLC6A1 or SLC6A11 gene on chromosome 3 and certain alleles thereof are related to susceptibility to autism and represent novel targets for therapeutic intervention. The present invention relates to particular mutations in the SLC6A1 or SLC6A11 gene and expression products, as well as to diagnostic tools and kits based on these mutations. The invention can be used in the diagnosis of predisposition to, detection, prevention and/or treatment of Asperger syndrome, pervasive developmental disorder, childhood disintegrative disorder, mental retardation, anxiety, depression, attention deficit hyperactivity disorders, speech delay, epilepsy, metabolic disorder, immune disorder, bipolar disease and other psychiatric and neurological diseases including schizophrenia. | 09-04-2008 |
20080254450 | Human Obesity Susceptibility Genes Encoding Peptide Hormones and Uses Thereof - The present invention discloses the identification of human obesity susceptibility genes, which can be used for the diagnosis and prevention of obesity and related disorders. The invention more specifically discloses that the PPY and PYY gene on chromosome 17 and certain alleles thereof are related to susceptibility to obesity. The present invention relates to particular mutations in the PPY and PYY gene and expression products, as well as to diagnostic tools and kits based on these mutations. The invention can be used in the diagnosis of predisposition to or protection from, detection, prevention and/or treatment of coronary heart disease and metabolic disorders, including hypoalphalipoproteinemia, familial combined hyperlipidemia, insulin resistant syndrome X or multiple metabolic disorder, coronary artery disease, diabetes and dyslipidemia. | 10-16-2008 |
20080286765 | Human Obesity Susceptibility Gene Encoding a Taste Receptor and Uses Thereof - The present invention discloses the identification of a human obesity susceptibility gene, which can be used for the diagnosis, prevention and treatment of obesity and related disorders, as well as for the screening of therapeutically active drugs. The invention more specifically discloses that the TAS1R1 gene on chromosome 1 and certain alleles thereof are related to susceptibility to obesity and represent novel targets for therapeutic intervention. The present invention relates to particular mutations in the TAS1R1 gene and expression products, as well as to diagnostic tools and kits based on these mutations. The invention can be used in the diagnosis of predisposition to, detection, prevention and/or treatment of coronary heart disease and metabolic disorders, including hypoalphalipoproteinemia, familial combined hyperlipidemia, insulin resistant syndrome X or multiple metabolic disorder, coronary artery disease, diabetes and dyslipidemia. | 11-20-2008 |
20090011414 | HUMAN AUTISM SUSCEPTIBILITY GENE ENCODING A KINASE AND USES THEREOF - The present invention discloses the identification of a human autism susceptibility gene, which can be used for the diagnosis, prevention and treatment of autism and related disorders, as well as for the screening of therapeutically active drugs. The invention more specifically discloses that the MARK1 gene on chromosome 1 and certain alleles thereof are related to susceptibility to autism and represent novel targets for therapeutic intervention. The present invention relates to particular mutations in the MARKI gene and expression products, as well as to diagnostic tools and kits based on these mutations. The invention can be used in the diagnosis of predisposition to, detection, prevention and/or treatment of Asperger syndrome, pervasive developmental disorder, mental retardation, anxiety, depression, attention deficit hyperactivity disorders, speech delay, epilepsy, metabolic disorder, immune disorder, bipolar disease and other psychiatric and neurological diseases including schizophrenia. | 01-08-2009 |
20090148430 | HUMAN OBESITY SUSCEPTIBILTY GENE ENCODING POTASSIUM ION CHANNELS AND USES THEREOF - The present invention more particularly discloses the identification of human obesity susceptibility genes, which can be used for the diagnosis, prevention and treatment of obesity ant associated disorders, as well as for the screening of therapeutically active drugs. The invention more specifically discloses certain alleles of potassium voltage-gated channel (E.CNA) genes related to susceptibility to obesity and representing novel targets for therapeutic intervention. More particularly, the potassium volt-age-gated channel (KCNA) genes are located on chromosome 12 and are selected from the group consisting of KCNA1, KCNA5 and KCNA6. The present invention relates to particular mutations in the KCNA1, KCNA5 and KCNA6 genes and their expression products, as well as to diagnostic tools and kits based on these mutations. The invention can be used in the diagnosis of predisposition to, detection, prevention and/or treatment of coronary heart disease and metabolic disorders, including but not limited to hypoalphalipoproteinemia, familial combined hyperlipidemia, insulin resistant syndrome X or multiple metabolic disorder, coronary artery disease, diabetes and associated complications and dyslipidemia. | 06-11-2009 |
20090208482 | HUMAN OBESITY SUSCEPTIBILITY GENE ENCODING A MEMBER OF THE NEUREXIN FAMILY AND USES THEREOF - The present invention more particularly discloses the identification of a human obesity susceptibility gene, which can be used for the diagnosis, prevention and treatment of obesity and associated disorders, as well as for the screening of therapeutically active drugs. The invention more specifically discloses certain alleles of the contactin associated protein-like 2 (CNTNAP2) gene related to susceptibility to obesity and representing novel targets for therapeutic intervention. The present invention relates to particular mutations in the CNTNAP2 gene and expression products, as well as to diagnostic tools and kits based on these mutations. The invention can be used in the diagnosis of predisposition to, detection, prevention and/or treatment of coronary heart disease and metabolic disorders, including but not limited to hypoalphalipoproteinemia, familial combined hyperlipidemia, insulin resistant syndrome X or multiple metabolic disorder, coronary artery disease, diabetes and associated complications and dyslipidemia. | 08-20-2009 |
20090215040 | HUMAN AUTISM SUSCEPTIBILITY GENE ENCODING A TRANSMEMBRANE PROTEIN AND USES THEREOF - The present invention discloses the identification of a human autism susceptibility gene, which can be used for the diagnosis, prevention and treatment of autism and related disorders, as well as for the screening of therapeutically active drugs. The invention more specifically discloses that the ATP2B2 gene on chromosome 3 and certain alleles thereof are related to susceptibility to autism and represent novel targets for therapeutic intervention. The present invention relates to particular mutations in the ATP2B2 gene and expression products, as well as to diagnostic tools and kits based on these mutations. The invention can be used in the diagnosis of predisposition to, detection, prevention and/or treatment of Asperger syndrome, pervasive developmental disorder, childhood disintegrative disorder, mental retardation, anxiety, depression, attention deficit hyperactivity disorders, speech delay or language impairment, epilepsy, metabolic disorder, immune disorder, bipolar disease and other psychiatric and neurological diseases including schizophrenia. | 08-27-2009 |
20100105057 | HUMAN DIABETES SUSCEPTIBILITY TNFRSF10D GENE - The present invention relates to a diagnostic method of determining whether a subject is at risk of developing type 2 diabetes, which method comprises detecting the presence of an alteration in the TNFRSF10D gene locus in a biological sample of said subject. | 04-29-2010 |
20100151462 | HUMAN DIABETES SUSCEPTIBILITY SHANK2 GENE - The present invention relates to a diagnostic method of determining whether a subject is at risk of developing type 2 diabetes, which method comprises detecting the presence of an alteration in the SHANK2 gene locus in a biological sample of said subject. | 06-17-2010 |
20100203517 | HUMAN DIABETES SUSCEPTIBILITY PEBP4 GENE - The present invention relates to a diagnostic method of determining whether a subject, preferably an obese subject, is at risk of developing type 2 diabetes, which method comprises detecting the presence of an alteration in the PEBP4 gene locus in a biological sample of said subject. | 08-12-2010 |
20100240539 | Human Autism Susceptibility Gene Encoding PRKCB1 and Uses Thereof - The present invention discloses the identification of a human autism susceptibility gene, which can be used for the diagnosis, prevention and treatment of autism and related disorders, as well as for the screening of therapeutically active drugs. The invention more specifically discloses that the PRKCB 1 gene on chromosome 16 and certain alleles thereof are related to susceptibility to autism and represent novel targets for therapeutic intervention. The present invention relates to particular mutations in the PRKCBI gene and expression products, as well as to diagnostic tools and kits based on these mutations. The invention can be used in the diagnosis of predisposition to, detection, prevention and/or treatment of Asperger syndrome, pervasive developmental disorder, childhood disintegrative disorder, mental retardation, anxiety, depression, attention deficit hyperactivity disorders, speech delay or language impairment, epilepsy, metabolic disorder, immune disorder, bipolar disease and other psychiatric and neurological diseases. | 09-23-2010 |
20100285459 | Human Diabetes Susceptibility TNFRSF10A gene - The present invention relates to a diagnostic method of determining whether a subject is at risk of developing type 2 diabetes, which method comprises detecting the presence of an alteration in the TNFRSF10A gene locus in a biological sample of said subject. | 11-11-2010 |
20110003287 | HUMAN DIABETES SUSCEPTIBILITY TNFRSF10C GENE - The present invention relates to a diagnostic method of determining whether a subject is at risk of developing type 2 diabetes, which method comprises detecting the presence of an alteration in the TNFRSF10C gene locus in a biological sample of said subject. | 01-06-2011 |
20110027393 | HUMAN DIABETES SUSCEPTIBILITY EEFSEC GENE - The present invention relates to a diagnostic method of determining whether a subject, preferably an obese subject, is at risk of developing type 2 diabetes or diabetic complications, which method comprises detecting the presence of an alteration in the EEFSEC gene locus in a biological sample of said subject. | 02-03-2011 |
20110091899 | COMBINATION OF RISK ALLELES ASSOCIATED WITH AUTISM - The present invention relates to a method of detecting the presence of or predisposition to autism, or to an autism spectrum disorder, the method comprising detecting the presence of an alteration in the gene loci PITX1, ATP2B2, SLC25A12 and EN2 in a sample from said subject. More particularly, the presence of specific single nucleotide polymorphisms (SNPs) within these genes correlates to a substantially increased risk to develop autism. | 04-21-2011 |
20110129820 | HUMAN DIABETES SUSCEPTIBILITY TNFRSF10B GENE - The present invention relates to a diagnostic method of determining whether a subject is at risk of developing type 2 diabetes, which method comprises detecting the presence of an alteration in the TNFRSF10B gene locus in a biological sample of said subject. | 06-02-2011 |
20130137585 | NEW COMBINATION OF EIGHT RISK ALLELES ASSOCIATED WITH AUTISM - The invention relates to a method of detecting the presence of or predisposition to autism, or to an autism spectrum disorder in a subject, the method comprising detecting the combined presence of an alteration in the gene loci of at least PITX1, ATP2B2, EN2, JARID2, MARK1, ITGB3, CNTNAP2, and HOXA1 in a sample from said subject. | 05-30-2013 |
20140127685 | COMPOSITIONS AND METHODS FOR DIAGNOSING AUTISM - The invention provides methods featuring the use of polymorphisms in the JARID2 gene to diagnosis autism. | 05-08-2014 |