Patents by Inventor Mark F. Leppert
Mark F. Leppert has filed for patents to protect the following inventions. This listing includes patent applications that are pending as well as patents that have already been granted by the United States Patent and Trademark Office (USPTO).
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Publication number: 20180230542Abstract: Methods are disclosed for generating and isolating an informative content repository of respiratory related biomarkers to accurately determine whether an individual has normal or abnormal pulmonary function. Specifically, methods are directed to determination of whether individuals have chronic obstructive pulmonary disease, and if so, whether the affected individuals experience rapid long decline or slow lung decline as a result of COPD. Also disclosed is an informative content repository of chronic obstructive pulmonary disease biomarkers, which when linked with other informative content provides a powerful tool for diagnosis, study, therapeutic discovery and development, condition management, health maintenance, and linking chronic obstructive pulmonary disease through pattern of life style, environmental exposure, and genetic susceptibility and inheritance.Type: ApplicationFiled: December 21, 2017Publication date: August 16, 2018Inventors: John Hoidal, Mary Beth Scholand, Mark F. Leppert, Michael S. Paul, Robert Mark Gritz, Joel Gardner Pounds, Richard Dale Smith
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Patent number: 9885085Abstract: Methods are disclosed for generating and isolating an informative content repository of respiratory related biomarkers to accurately determine whether an individual has normal or abnormal pulmonary function. Specifically, methods are directed to determination of whether individuals have chronic obstructive pulmonary disease, and if so, whether the affected individuals experience rapid long decline or slow lung decline as a result of COPD. Also disclosed is an informative content repository of chronic obstructive pulmonary disease biomarkers, which when linked with other informative content provides a powerful tool for diagnosis, study, therapeutic discovery and development, condition management, health maintenance, and linking chronic obstructive pulmonary disease through pattern of life style, environmental exposure, and genetic susceptibility and inheritance.Type: GrantFiled: June 28, 2007Date of Patent: February 6, 2018Assignees: University of Utah Research Foundation, Lineagen, Inc.Inventors: John Hoidal, Mary Beth Scholand, Mark F. Leppert, Michael S. Paul, Robert Mark Gritz, Joel Gardner Pounds, Richard Dale Smith
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Publication number: 20170306401Abstract: Methods and compositions for diagnosing multiple sclerosis (“MS”) in an individual or the predisposition or risk of MS, and for the prediction of the response to treatment of MS in an individual. More particularly, methods and compounds for the use of clinical, neuroradiological, genetic, biological and/or immunological markers as prognostic indicators, diagnostic markers, or predictors of response to MS therapy.Type: ApplicationFiled: December 14, 2016Publication date: October 26, 2017Inventors: John W. Rose, Mark F. Leppert
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Patent number: 9617316Abstract: Described are mutant Nav1.7 sodium channel alpha-subunits and nucleic acid sequences encoding such mutants. Further described are methods for characterizing a nucleic acid sequence that encodes a Nav1.7 sodium channel alpha-subunit, methods for determining a Nav1.7 haplotype, methods for determining a subject's predisposition to a neurologic disorder associated with a sodium channel mutation, and methods of identifying a compound that modulates mutant Nav1.7 sodium channels. Other materials, compositions, articles, devices, and methods relating to mutant Nav1.7 sodium channels are also described herein.Type: GrantFiled: August 14, 2013Date of Patent: April 11, 2017Assignee: University of Utah Research FoundationInventors: Mark F. Leppert, Nanda A. Singh
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Patent number: 9523127Abstract: Generalized idiopathic epilepsies (IGE) cause 40% of all seizures and commonly have a genetic basis. One type of IGE is Benign Familial Neonatal Convulsions (BFNC), a dominantly inherited disorder of newborns. A submicroscopic deletion of chromosome 20q13.3 which co-segregates with seizures in a BFNC family has been identified. Characterization of cDNAs spanning the deleted region identified a novel voltage-gated potassium channel, KCNQ2, which belongs to a new KCNQ1-like class of potassium channels. Nine other BFNC probands were shown to have KCNQ2 mutations including three missense mutations, three frameshifts, two nonsense mutations, and one splice site mutation. A second gene, KCNQ3, was found in a separate BFNC family in which the mutation had been localized to chromosome 8. A missense mutation was found in this gene in perfect cosegregation with the BFNC phenotype in this latter family. This demonstrates that defects in potassium channels can cause epilepsy.Type: GrantFiled: February 5, 2007Date of Patent: December 20, 2016Assignee: THE UNIVERSITY OF UTAH RESEARCH FOUNDATIONInventors: Nanda A. Singh, Mark F. Leppert, Carole Charlier
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Publication number: 20150259741Abstract: Disclosed herein are methods and compositions for diagnosing multiple sclerosis (“MS”) in a subject or the risk of MS in a subject. More particularly, methods and compositions for the use of genetic markers for diagnosing MS in subject or the risk of MS in a subject.Type: ApplicationFiled: November 6, 2013Publication date: September 17, 2015Inventors: Mark F. Leppert, John W. Rose, Nori Matsunami, Charles Henry Hensel
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Publication number: 20140165219Abstract: Described are mutant Nav1.7 sodium channel alpha-subunits and nucleic acid sequences encoding such mutants. Further described are methods for characterizing a nucleic acid sequence that encodes a Nav1.7 sodium channel alpha-subunit, methods for determining a Nav1.7 haplotype, methods for determining a subject's predisposition to a neurologic disorder associated with a sodium channel mutation, and methods of identifying a compound that modulates mutant Nav1.7 sodium channels. Other materials, compositions, articles, devices, and methods relating to mutant Nav1.7 sodium channels are also described herein.Type: ApplicationFiled: August 14, 2013Publication date: June 12, 2014Applicant: UNIVERSITY OF UTAH RESEARCH FOUNDATIONInventors: Mark F. Leppert, Nanda A. Singh
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Publication number: 20120283116Abstract: Described are mutant Nav1.7 sodium channel alpha-subunits and nucleic acid sequences encoding such mutants. Further described are methods for characterizing a nucleic acid sequence that encodes a Nav1.7 sodium channel alpha-subunit, methods for determining a Nav1.7 haplotype, methods for determining a subject's predisposition to a neurologic disorder associated with a sodium channel mutation, and methods of identifying a compound that modulates mutant Nav1.7 sodium channels. Other materials, compositions, articles, devices, and methods relating to mutant Nav1.7 sodium channels are also described herein.Type: ApplicationFiled: September 13, 2010Publication date: November 8, 2012Inventor: Mark F. Leppert
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Publication number: 20110104665Abstract: Described are mutant Nav1.7 sodium channel alpha-subunits and nucleic acid sequences encoding such mutants. Further described are methods for characterizing a nucleic acid sequence that encodes a Nav1 sodium channel alpha-subunit, methods for determining a Nav1.7 haplotype, methods for determining a subject's predisposition to a neurologic disorder associated with a sodium channel mutation, and methods of identifying a compound that modulates mutant Nav1.7 sodium channels. Other materials, compositions, articles, devices, and methods relating to mutant Nav1.7 sodium channels are also described herein.Type: ApplicationFiled: August 5, 2009Publication date: May 5, 2011Inventors: Mark F. Leppert, Nanda A. Singh
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Publication number: 20100210471Abstract: The present disclosure relates to the identification of a subject that is affected with, or predisposed to, autism or to one or more autism spectrum disorders (ASD). The present disclosure includes methods related to the association of certain genetic markers with autism and/or ASD. More particularly, the present disclosure is related to methods and diagnostic tests for diagnosing or predicting ASD in an individual.Type: ApplicationFiled: November 12, 2009Publication date: August 19, 2010Applicants: University of Utah Research Foundation, LineaGen, Inc.Inventors: Mark F. Leppert, William McMahon, Nori Matsunami
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Publication number: 20100167421Abstract: Methods and compositions for diagnosing multiple sclerosis (“MS”) in an individual or the predisposition or risk of MS, and for the prediction of the response to treatment of MS in an individual. More particularly, methods and compounds for the use of clinical, neuroradiological, genetic, biological and/or immunological markers as prognostic indicators, diagnostic markers, or predictors of response to MS therapy.Type: ApplicationFiled: September 21, 2009Publication date: July 1, 2010Applicants: UNIVERSITY OF UTAH RESEARCH FOUNDATION, LINEAGEN, INC.Inventors: John W. Rose, Mark F. Leppert
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Patent number: 7670771Abstract: Described are mutant Nav1.7 sodium channel alpha-subunits and nucleic acid sequences encoding such mutants. Further described are methods for characterizing a nucleic acid sequence that encodes a Nav1 sodium channel alpha-subunit, methods for determining a Nav1.7 haplotype, methods for determining a subject's predisposition to a neurologic disorder associated with a sodium channel mutation, and methods of identifying a compound that modulates mutant Nav1.7 sodium channels. Other materials, compositions, articles, devices, and methods relating to mutant Nav1.7 sodium channels are also described herein.Type: GrantFiled: January 21, 2005Date of Patent: March 2, 2010Assignee: University of Utah Research FoundationInventors: Mark F. Leppert, Nanda A. Singh
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Patent number: 7449294Abstract: The invention maps a herpes simplex labialis (HSL) susceptibility gene associated with HSL to the q11 region of chromosome 21. The invention provides methods of screening for susceptibility or resistance to herpes simplex virus, particularly herpes simplex labialis, and diagnosing herpetic diseases, such as HSL.Type: GrantFiled: April 11, 2005Date of Patent: November 11, 2008Assignee: University of Utah Research FoundationInventors: John D. Kriesel, Mark F. Leppert, Sportswood L. Spruance, Brith E. M. Otterud, Maurine R. Hobbs, Brandt B. Jones
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Patent number: 7214483Abstract: Generalized idiopathic epilepsies (IGE) cause 40% of all seizures and commonly have a genetic basis. One type of IGE is Benign Familial Neonatal Convulsions (BFNC), a dominantly inherited disorder of newborns. A submicroscopic deletion of chromosome 20q13.3 which co-segregates with seizures in a BFNC family has been identified. Characterization of cDNAs spanning the deleted region identified a novel voltage-gated potassium channel, KCNQ2, which belongs to a new KCNQ1-like class of potassium channels. Nine other BFNC probands were shown to have KCNQ2 mutations including three missense mutations, three frameshifts, two nonsense mutations, and one splice site mutation. A second gene, KCNQ3, was found in a separate BFNC family in which the mutation had been localized to chromosome 8. A missense mutation was found in this gene in perfect cosegregation with the BFNC phenotype in this latter family. This demonstrates that defects in potassium channels can cause epilepsy.Type: GrantFiled: March 14, 2002Date of Patent: May 8, 2007Assignee: University of Utah Research FoundationInventors: Nanda A. Singh, Mark F. Leppert, Carole Charlier
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Publication number: 20030165874Abstract: Generalized idiopathic epilepsies (IGE) cause 40% of all seizures and commonly have a genetic basis. One type of IGE is Benign Familial Neonatal Convulsions (BFNC), a dominantly inherited disorder of newborns. A submicroscopic deletion of chromosome 20q13.3 which co-segregates with seizures in a BFNC family has been identified. Characterization of cDNAs spanning the deleted region identified a novel voltage-gated potassium channel, KCNQ2, which belongs to a new KCNQ1-like class of potassium channels. Nine other BFNC probands were shown to have KCNQ2 mutations including three missense mutations, three frameshifts, two nonsense mutations, and one splice site mutation. A second gene, KCNQ3, was found in a separate BFNC family in which the mutation had been localized to chromosome 8. A missense mutation was found in this gene in perfect cosegregation with the BFNC phenotype in this latter family. This demonstrates that defects in potassium channels can cause epilepsy.Type: ApplicationFiled: March 14, 2002Publication date: September 4, 2003Applicant: University of Utah Research FoundationInventors: Nanda A. Singh, Mark F. Leppert, Carole Charlier
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Patent number: 6413719Abstract: Generalized idiopathic epilepsies (IGE) cause 40% of all seizures and commonly have a genetic basis. One type of IGE is Benign Familial Neonatal Convulsions (BFNC), a dominantly inherited disorder of newborns. A submicroscopic deletion of chromosome 20q13.3 which co-segregates with seizures in a BFNC family has been identified. Characterization of cDNAs spanning the deleted region identified a novel voltage-gated potassium channel, KCNQ2, which belongs to a new KCNQ1-like class of potassium channels. Nine other BFNC probands were shown to have KCNQ2 mutations including three missense mutations, three frameshifts, two nonsense mutations, and one splice site mutation. A second gene, KCNQ3, was found in a separate BFNC family in which the mutation had been localized to chromosome 8. A missense mutation was found in this gene in perfect cosegregation with the BFNC phenotype in this latter family. This demonstrates that defects in potassium channels can cause epilepsy.Type: GrantFiled: October 23, 1998Date of Patent: July 2, 2002Assignee: University of Utah Research FoundationInventors: Nanda A. Singh, Mark F. Leppert, Carole Charlier
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Patent number: 5840489Abstract: The invention relates to the identification of the molecular basis of supravalvular aortic stenosis (SVAS) and Williams syndrome. More specifically, the invention has identified that elastin causes or is involved in the pathogenesis of SVAS and Williams syndrome. Molecular variants of the elastin gene contribute to SVAS and Williams syndrome. The analysis of the elastin gene will provide an early diagnosis of subjects with SVAS and Williams syndrome. The diagnostic method comprises analyzing the DNA sequence of the elastin gene of an individual to be tested and comparing it with the DNA sequence of the native, non-variant elastin gene. In a second embodiment, the elastin gene of an individual to be tested is screened for mutations associated with SVAS or Williams syndrome. Presymptomatic diagnosis of SVAS and Williams syndrome will enable practitioners to prevent vascular obstruction using existing medical therapies like beta adrenergic blocking agents.Type: GrantFiled: June 7, 1995Date of Patent: November 24, 1998Assignee: University of Utah Research FoundationInventors: Mark T. Keating, Mark F. Leppert, Colleen A. Morris
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Patent number: 5650282Abstract: The invention relates to the identification of the molecular basis of supravalvular aortic stenosis (SVAS) and Williams syndrome. More specifically, the invention has identified that elastin causes or is involved in the pathogenesis of SVAS and Williams syndrome. Molecular variants of the elastin gene contribute to SVAS and Williams syndrome. The analysis of the elastin gene will provide an early diagnosis of subjects with SVAS and Williams syndrome. The diagnostic method comprises analyzing the DNA sequence of the elastin gene of an individual to be tested and comparing it with the DNA sequence of the native, non-variant elastin gene. In a second embodiment, the elastin gene of an individual to be tested is screened for mutations associated with SVAS or Williams syndrome. Presymptomatic diagnosis of SVAS and Williams syndrome will enable practitioners to prevent vascular obstruction using existing medical therapies like beta adrenergic blocking agents.Type: GrantFiled: June 7, 1995Date of Patent: July 22, 1997Assignee: The University of Utah Research FoundationInventors: Mark T. Keating, Mark F. Leppert, Colleen A. Morris
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Patent number: 5411859Abstract: The present invention is related to the identification of cloned DNA sequences that reveal individual multiallele loci. The loci are used in the process of the present invention to provide convenient and accurate genetic identification. A large number of clones that recognize VNTR loci have been isolated from a cosmid library and characterized.Type: GrantFiled: June 10, 1991Date of Patent: May 2, 1995Assignee: University of Utah Research FoundationInventors: Raymond L. White, Yusuke Nakamura, Peter O'Connell, Midvale, Mark F. Leppert
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Patent number: 4963663Abstract: The present invention is related to the identification of cloned DNA sequences that reveal individual multiallele loci. The loci are used in the process of the present invention to provide convenient and accurate genetic identification. A large number of clones that recognize VNTR loci have been isolated from a cosmid library and characterized.Type: GrantFiled: February 8, 1989Date of Patent: October 16, 1990Assignee: University of UtahInventors: Raymond L. White, Yusuke Nakamura, Peter O'Connell, Mark F. Leppert