Patents by Inventor Margaret A. Pericak-Vance
Margaret A. Pericak-Vance 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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Patent number: 11214834Abstract: Methods are described for screening a subject for risk of Charcot-Marie-Tooth Disease Type 2A or for diagnosing Charcot-Marie-Tooth disease or a predisposition for developing Charcot-Marie-Tooth disease in a subject, by detecting the presence or absence of a mutation in the mitofusin gene in a biological sample collected from the subject. Methods are also described for detecting the presence of a genetic polymorphism associated with Charcot-Marie-Tooth Disease Type 2A in a sample of patient nucleic acid, by amplifying a mitofusin gene sequence in the patient nucleic acid to produce an amplification product; and identifying the presence of a Charcot-Marie-Tooth Disease Type 2A associated polymorphism in the amplification product.Type: GrantFiled: January 30, 2015Date of Patent: January 4, 2022Assignee: Duke UniversityInventors: Jeffery M. Vance, Stephen Zuchner, Margaret A. Pericak-Vance
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Patent number: 11035003Abstract: Focal and segmental glomerulosclerosis (FSGS) is a kidney disorder of unknown etiology and up to 20% of patients on dialysis have this diagnosis. A large family with hereditary FSGS carries a missense mutation in the TRPC6 gene on chromosome 11q, encoding the ion channel protein Transient Receptor Potential Cation Channel 6. The missense mutation is a P112Q substitution, which occurs in a highly conserved region of the protein, enhances TRPC6-mediated calcium signals in response to agonists such as angiotensin II, and alters the intracellular distribution of TRPC6 protein. Previous work has emphasized the importance of cytoskeletal and structural proteins in proteinuric kidney diseases. Our findings suggest a novel mechanism for glomerular disease pathogenesis.Type: GrantFiled: June 28, 2019Date of Patent: June 15, 2021Assignee: DUKE UNIVERSITYInventors: Michelle Winn, Margaret A. Pericak-Vance, Jeffery M. Vance
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Publication number: 20200024665Abstract: Focal and segmental glomerulosclerosis (FSGS) is a kidney disorder of unknown etiology and up to 20% of patients on dialysis have this diagnosis. A large family with hereditary FSGS carries a missense mutation in the TRPC6 gene on chromosome 11q, encoding the ion channel protein Transient Receptor Potential Cation Channel 6. The missense mutation is a P112Q substitution, which occurs in a highly conserved region of the protein, enhances TRPC6-mediated calcium signals in response to agonists such as angiotensin II, and alters the intracellular distribution of TRPC6 protein. Previous work has emphasized the importance of cytoskeletal and structural proteins in proteinuric kidney diseases. Our findings suggest a novel mechanism for glomerular disease pathogenesis.Type: ApplicationFiled: June 28, 2019Publication date: January 23, 2020Applicant: Duke UniversityInventors: Michelle WINN, Margaret A. Pericak-Vance, Jeffery M. Vance
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Patent number: 10337068Abstract: Focal and segmental glomerulosclerosis (FSGS) is a kidney disorder of unknown etiology and up to 20% of patients on dialysis have this diagnosis. A large family with hereditary FSGS carries a missense mutation in the TRPC6 gene on chromosome 11q, encoding the ion channel protein Transient Receptor Potential Cation Channel 6. The missense mutation is a P112Q substitution, which occurs in a highly conserved region of the protein, enhances TRPC6-mediated calcium signals in response to agonists such as angiotensin II, and alters the intracellular distribution of TRPC6 protein. Previous work has emphasized the importance of cytoskeletal and structural proteins in proteinuric kidney diseases. Our findings suggest a novel mechanism for glomerular disease pathogenesis.Type: GrantFiled: June 1, 2016Date of Patent: July 2, 2019Assignee: DUKE UNIVERSITYInventors: Michelle Winn, Margaret A. Pericak-Vance, Jeffery M. Vance
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Publication number: 20160376655Abstract: Focal and segmental glomerulosclerosis (FSGS) is a kidney disorder of unknown etiology and up to 20% of patients on dialysis have this diagnosis. A large family with hereditary FSGS carries a missense mutation in the TRPC6 gene on chromosome 11q, encoding the ion channel protein Transient Receptor Potential Cation Channel 6. The missense mutation is a P112Q substitution, which occurs in a highly conserved region of the protein, enhances TRPC6-mediated calcium signals in response to agonists such as angiotensin II, and alters the intracellular distribution of TRPC6 protein. Previous work has emphasized the importance of cytoskeletal and structural proteins in proteinuric kidney diseases. Our findings suggest a novel mechanism for glomerular disease pathogenesis.Type: ApplicationFiled: June 1, 2016Publication date: December 29, 2016Applicant: Duke UniversityInventors: Michelle WINN, Margaret A. Pericak-Vance, Jeffery M. Vance
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Patent number: 9433642Abstract: Focal and segmental glomerulosclerosis (FSGS) is a kidney disorder of unknown etiology and up to 20% of patients on dialysis have this diagnosis. A large family with hereditary FSGS carries a missense mutation in the TRPC6 gene on chromosome 11q, encoding the ion channel protein Transient Receptor Potential Cation Channel 6. The missense mutation is a P112Q substitution, which occurs in a highly conserved region of the protein, enhances TRPC6-mediated calcium signals in response to agonists such as angiotensin II, and alters the intracellular distribution of TRPC6 protein. Previous work has emphasized the importance of cytoskeletal and structural proteins in proteinuric kidney diseases. Our findings suggest a novel mechanism for glomerular disease pathogenesis.Type: GrantFiled: May 18, 2010Date of Patent: September 6, 2016Assignee: DUKE UNIVERSITYInventors: Michelle Winn, Margaret A. Pericak-Vance, Jeffery M. Vance
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Publication number: 20150132760Abstract: Methods are described for screening a subject for risk of Charcot-Marie-Tooth Disease Type 2A or for diagnosing Charcot-Marie-Tooth disease or a predisposition for developing Charcot-Marie-Tooth disease in a subject, by detecting the presence or absence of a mutation in the mitofusin gene in a biological sample collected from the subject. Methods are also described for detecting the presence of a genetic polymorphism associated with Charcot-Marie-Tooth Disease Type 2A in a sample of patient nucleic acid, by amplifying a mitofusin gene sequence in the patient nucleic acid to produce an amplification product; and identifying the presence of a Charcot-Marie-Tooth Disease Type 2A associated polymorphism in the amplification product.Type: ApplicationFiled: January 30, 2015Publication date: May 14, 2015Applicant: Duke UniversityInventors: Jeffery M. Vance, Stephen Zuchner, Margaret A. Pericak-Vance
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Patent number: 8975020Abstract: Methods are described for screening a subject for risk of Charcot-Marie-Tooth Disease Type 2A or for diagnosing Charcot-Marie-Tooth disease or a predisposition for developing Charcot-Marie-Tooth disease in a subject, by detecting the presence or absence of a mutation in the mitofusin gene in a biological sample collected from the subject. Methods are also described for detecting the presence of a genetic polymorphism associated with Charcot-Marie-Tooth Disease Type 2A in a sample of patient nucleic acid, by amplifying a mitofusin gene sequence in the patient nucleic acid to produce an amplification product; and identifying the presence of a Charcot-Marie-Tooth Disease Type 2A associated polymorphism in the amplification product.Type: GrantFiled: June 25, 2012Date of Patent: March 10, 2015Assignee: Duke UniversityInventors: Jeffery M. Vance, Stephan Zuchner, Margaret A. Pericak-Vance
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Publication number: 20120264136Abstract: Methods are described for screening a subject for risk of Charcot-Marie-Tooth Disease Type 2A or for diagnosing Charcot-Marie-Tooth disease or a predisposition for developing Charcot-Marie-Tooth disease in a subject, by detecting the presence or absence of a mutation in the mitofusin gene in a biological sample collected from the subject. Methods are also described for detecting the presence of a genetic polymorphism associated with Charcot-Marie-Tooth Disease Type 2A in a sample of patient nucleic acid, by amplifying a mitofusin gene sequence in the patient nucleic acid to produce an amplification product; and identifying the presence of a Charcot-Marie-Tooth Disease Type 2A associated polymorphism in the amplification product.Type: ApplicationFiled: June 25, 2012Publication date: October 18, 2012Applicant: DUKE UNIVERSITYInventors: Jeffery M. Vance, Stephan Zuchner, Margaret A. Pericak-Vance
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Patent number: 8206922Abstract: Methods are described for screening a subject for risk of Charcot-Marie-Tooth Disease Type 2A or for diagnosing Charcot-Marie-Tooth disease or a predisposition for developing Charcot-Marie-Tooth disease in a subject, by detecting the presence or absence of a mutation in the mitofusin gene in a biological sample collected from the subject. Methods are also described for detecting the presence of a genetic polymorphism associated with Charcot-Marie-Tooth Disease Type 2A in a sample of patient nucleic acid, by amplifying a mitofusin gene sequence in the patient nucleic acid to produce an amplification product; and identifying the presence of a Charcot-Marie-Tooth Disease Type 2A associated polymorphism in the amplification product.Type: GrantFiled: March 25, 2010Date of Patent: June 26, 2012Assignee: Duke UniversityInventors: Jeffery M. Vance, Stephan Zuchner, Margaret A. Pericak-Vance
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Patent number: 8158344Abstract: The present invention provides, in certain aspects, a method of identifying a subject as having an increased risk of developing multiple sclerosis, comprising detecting in the subject the presence of a nucleotide variant in the interleukin 7 receptor alpha chain gene, whereby the presence of said variant identifies the subject as having an increased risk of developing multiple sclerosis.Type: GrantFiled: June 26, 2008Date of Patent: April 17, 2012Assignees: Duke University, Vanderbilt UniversityInventors: Jonathan L. Haines, Simon G. Gregory, Silke Schmidt, Margaret A. Pericak-Vance, Mariano Garcia-Blanco
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Patent number: 8088587Abstract: Age-related macular degeneration (AMD) is a leading cause of visual impairment and blindness in the elderly whose etiology remains largely unknown. Previous studies identified chromosome 1q32 as harboring a susceptibility locus for AMD, but it was not identified. We identified a strongly associated haplotype in two independent data sets. DNA sequencing of the complement factor II gene (CFII) within this haplotype revealed a coding variant, Y402II, that significantly increases the risk for AMD with odds ratios between 2.45 and 5.57. This identifies Complement factor II as involved in pathogenesis of AMD. This single variant alone is so common that it likely explains 43 percent of AMD in older adults. In addition, we have replicated and refined previous reports implicating a coding change in LOC387715 as the second major AMD susceptibility allele. The effect of rs10490924 appears to be completely independent of the Y402H variant in the CFH gene.Type: GrantFiled: March 6, 2006Date of Patent: January 3, 2012Assignees: Vanderbilt University, Duke UniversityInventors: Margaret A. Pericak-Vance, Jonathan L. Haines, Eric Postel, Anita Agarwal, Michael A. Hauser, Silke Schmidt, William K. Scott
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Publication number: 20110117557Abstract: The invention generally concerns methods and compositions for screening individuals for susceptibility to age-related macular degeneration (AMD). In particular, association with the various markers including complement factor H, LOC387717/ARMS2, C2/CFB, C3 and VEGF, indicates that a subject is at risk of AMD.Type: ApplicationFiled: February 23, 2009Publication date: May 19, 2011Inventors: Jeffrey A. Canter, Margaret A. Pericak-Vance, Kylee M. Spencer, Jonathan L. Haines
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Publication number: 20110070583Abstract: The LSAMP gene can be used for cardiovascular disease risk assessment, in particular Left Main Disease. The genetic risk attributable to LSAMP adds to known cardiovascular disease risk factors. Assessment of risk attributable to LSAMP permits early initiation of preventive and therapeutic strategies. Given the pronounced clinical risk associated with Left Main Disease, such risk assessment should significantly reduce morbidity and mortality.Type: ApplicationFiled: August 19, 2010Publication date: March 24, 2011Inventors: Jeffery M. Vance, Pascal Goldschmidt, Elizabeth Hauser, William Kraus, Margaret A. Pericak-Vance
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Publication number: 20110020810Abstract: Focal and segmental glomerulosclerosis (FSGS) is a kidney disorder of unknown etiology and up to 20% of patients on dialysis have this diagnosis. A large family with hereditary FSGS carries a missense mutation in the TRPC6 gene on chromosome 11q, encoding the ion channel protein Transient Receptor Potential Cation Channel 6. The missense mutation is a P112Q substitution, which occurs in a highly conserved region of the protein, enhances TRPC6-mediated calcium signals in response to agonists such as angiotensin II, and alters the intracellular distribution of TRPC6 protein. Previous work has emphasized the importance of cytoskeletal and structural proteins in proteinuric kidney diseases. Our findings suggest a novel mechanism for glomerular disease pathogenesis.Type: ApplicationFiled: May 18, 2010Publication date: January 27, 2011Applicant: DUKE UNIVERSITYInventors: MICHELLE WINN, MARGARET A. PERICAK-VANCE, JEFFERY M. VANCE
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Patent number: 7811762Abstract: Methods of identifying polymorphisms associated with hereditary spastic paraplegia (SPG), are described. The polymorphisms associated with SPG include specific mutations in the receptor expression enhancing protein 1 (REEP1) gene. Also described are methods of diagnosis of SPG.Type: GrantFiled: March 28, 2007Date of Patent: October 12, 2010Assignee: Duke UniversityInventors: Stephan Zuchner, Margaret Pericak-Vance, Allison Ashley-Koch, Corey Braastad, Narasimhan Nagan, Hui Zhu, Jeffrey G. Jones
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Publication number: 20100190264Abstract: Age-related macular degeneration (AMD) is a leading cause of visual impairment and blindness in the elderly whose etiology remains largely unknown. Previous studies identified chromosome 1q32 as harboring a susceptibility locus for AMD, but it was not identified. We identified a strongly associated haplotype in two independent data sets. DNA sequencing of the complement factor II gene (CHI) within this haplotype revealed a coding variant, Y402II, that significantly increases the risk for AMD with odds ratios between 2.45 and 5.57. This identifies Complement factor II as involved in pathogenesis of AMD. This single variant alone is so common that it likely explains 43 percent of AMD in older adults. In addition, we have replicated and refined previous reports implicating a coding change in LOC387715 as the second major AMD susceptibility allele. The effect of rs10490924 appears to be completely independent of the Y402II variant in the CFH gene.Type: ApplicationFiled: March 6, 2006Publication date: July 29, 2010Applicants: VANDERBILT UNIVERSITY MEDICAL CENTER, OFFICE OF TECHNOLOGY TRANSFER AND ENTERPRISE DEVELOPMENT, DUKE UNIVERSITYInventors: Margaret A. Pericak-Vance, Jonathan L. Haines, Eric Postel, Anita Agarwal, Michael A. Hauser, Silke Schmidt, William K. Scott
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Publication number: 20100184080Abstract: Methods are described for screening a subject for risk of Charcot-Marie-Tooth Disease Type 2A or for diagnosing Charcot-Marie-Tooth disease or a predisposition for developing Charcot-Marie-Tooth disease in a subject, by detecting the presence or absence of a mutation in the mitofusin gene in a biological sample collected from the subject. Methods are also described for detecting the presence of a genetic polymorphism associated with Charcot-Marie-Tooth Disease Type 2A in a sample of patient nucleic acid, by amplifying a mitofusin gene sequence in the patient nucleic acid to produce an amplification product; and identifying the presence of a Charcot-Marie-Tooth Disease Type 2A associated polymorphism in the amplification product.Type: ApplicationFiled: March 25, 2010Publication date: July 22, 2010Applicant: Duke UniversityInventors: Jeffery M. Vance, Stephan Zuchner, Margaret A. Pericak-Vance
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Patent number: 7745597Abstract: Focal and segmental glomerulosclerosis (FSGS) is a kidney disorder of unknown etiology and up to 20% of patients on dialysis have this diagnosis. A large family with hereditary FSGS carries a missense mutation in the TRPC6 gene on chromosome 11q, encoding the ion channel protein Transient Receptor Potential Cation Channel 6. The missense mutation is a P112Q substitution, which occurs in a highly conserved region of the protein, enhances TRPC6-mediated calcium signals in response to agonists such as angiotensin II, and alters the intracellular distribution of TRPC6 protein. Previous work has emphasized the importance of cytoskeletal and structural proteins in proteinuric kidney diseases. Our findings suggest a novel mechanism for glomerular disease pathogenesis.Type: GrantFiled: March 9, 2007Date of Patent: June 29, 2010Assignee: Duke UniversityInventors: Michelle Winn, Margaret A. Pericak-Vance, Jeffery M. Vance
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Patent number: 7727717Abstract: Methods are described for screening a subject for risk of Charcot-Marie-Tooth Disease Type 2A or for diagnosing Charcot-Marie-Tooth disease or a predisposition for developing Charcot-Marie-Tooth disease in a subject, by detecting the presence or absence of a mutation in the mitofusin gene in a biological sample collected from the subject. Methods are also described for detecting the presence of a genetic polymorphism associated with Charcot-Marie-Tooth Disease Type 2A in a sample of patient nucleic acid, by amplifying a mitofusin gene sequence in the patient nucleic acid to produce an amplification product; and identifying the presence of a Charcot-Marie-Tooth Disease Type 2A associated polymorphism in the amplification product.Type: GrantFiled: November 12, 2004Date of Patent: June 1, 2010Assignee: Duke UniversityInventors: Jeffery M Vance, Stephan Zuchner, Margaret A. Pericak-Vance