Patents by Inventor James R. Lupski

James R. Lupski 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).

  • FIG4 gene mutations in neurodegeneration
    Patent number: 10260100
    Abstract: The present invention relates to neuropathy, in particular to mutations in the FIG4 gene. The present invention also provides assays for the detection of variant FIG4 alleles, and assays for detecting FIG4 polymorphisms and mutations associated with disease states.
    Type: Grant
    Filed: May 12, 2016
    Date of Patent: April 16, 2019
    Assignees: THE REGENTS OF THE UNIVERSITY OF MICHIGAN, BAYLOR COLLEGE OF MEDICINE
    Inventors: Miriam Meisler, James R. Lupski, Clement Chow
  • FIG4 GENE MUTATIONS IN NEURODEGENERATION
    Publication number: 20160319356
    Abstract: The present invention relates to neuropathy, in particular to mutations in the FIG4 gene. The present invention also provides assays for the detection of variant FIG4 alleles, and assays for detecting FIG4 polymorphisms and mutations associated with disease states.
    Type: Application
    Filed: May 12, 2016
    Publication date: November 3, 2016
    Inventors: Miriam Meisler, James R. Lupski, Clement Chow
  • FIG4 gene mutations in neurodegeneration
    Patent number: 9365899
    Abstract: The present invention relates to neuropathy, in particular to mutations in the FI G4 gene. The present invention also provides assays for the detection of variant FIG4 alleles, and assays for detecting FIG4 polymorphisms and mutations associated with disease states.
    Type: Grant
    Filed: April 25, 2008
    Date of Patent: June 14, 2016
    Assignee: THE REGENTS OF THE UNIVERSITY OF MICHIGAN
    Inventors: Miriam Meisler, James R. Lupski, Clement Y. Chow
  • Methods of gene therapy using nucleic acid sequences for ATP-binding cassette transporter
    Patent number: 8129353
    Abstract: The present invention provides nucleic acid and amino acid sequences of an ATP binding cassette transporter and mutated sequences thereof associated with macular degeneration. Methods of detecting agents that modify ATP-binding cassette transporter comprising combining purified ATP binding cassette transporter and at least one agent suspected of modifying the ATP binding cassette transporter an observing a change in at least one characteristic associated with ATP binding cassette transporter. Methods of detecting macular degeneration is also embodied by the present invention.
    Type: Grant
    Filed: December 11, 2006
    Date of Patent: March 6, 2012
    Assignees: Baylor College of Medicine, John Hopkins University, The United States of America as represented by the Secretary, Department of Health and Human Services, University of Utah Research Foundation
    Inventors: Rando Allikmets, Kent L. Anderson, Michael Dean, Mark Leppert, Richard A. Lewis, Yixin Li, James R. Lupski, Jeremy Nathans, Amir Rattner, Noah F. Shroyer, Nanda Singh, Philip Smallwood, Hui Sun
  • METHODS OF GENE THERAPY USING NUCLEIC ACID SEQUENCES FOR ATP-BINDING CASSETTE TRANSPORTER
    Publication number: 20120040456
    Abstract: The present invention provides nucleic acid and amino acid sequences of an ATP binding cassette transporter and mutated sequences thereof associated with macular degeneration. Methods of detecting agents that modify ATP-binding cassette transporter comprising combining purified ATP binding cassette transporter and at least one agent suspected of modifying the ATP binding cassette transporter an observing a change in at least one characteristic associated with ATP binding cassette transporter. Methods of detecting macular degeneration is also embodied by the present invention.
    Type: Application
    Filed: June 2, 2011
    Publication date: February 16, 2012
    Applicant: Baylor College of Medicine
    Inventors: Rando Allikmets, Kent L. Anderson, Michael Dean, Mark Leppert, Richard A. Lewis, Yixin Li, James R. Lupski, Jeremy Nathans, Amir Rattner, Noah F. Shroyer, Nanda Singh, Philip Smallwood, Hui Sun
  • FIG4 GENE MUTATIONS IN NEURODEGENERATION
    Publication number: 20100143255
    Abstract: The present invention relates to neuropathy, in particular to mutations in the FI G4 gene. The present invention also provides assays for the detection of variant FIG4 alleles, and assays for detecting FIG4 polymorphisms and mutations associated with disease states.
    Type: Application
    Filed: April 25, 2008
    Publication date: June 10, 2010
    Applicants: THE REGENTS OF THE UNIVERSITY OF MICHIGAN, BAYLOR COLLEGE OF MEDICINE
    Inventors: Miriam Meisler, James R. Lupski, Clement Chow
  • Defects in periaxin associated with myelinopathies
    Patent number: 7537899
    Abstract: The present invention relates to defects in periaxin (PRX) associated with myelinopathies, including Charcot-Marie-Tooth syndrome and/or Dejerine-Sottas syndrome. Unrelated individuals having a myelinopathy from Dejerine-Sottas syndrome have recessive PRX mutations. The PRX locus maps to a region associated with a severe autosomal recessive demyelinating neuropathy and is also syntenic to the Prx location on murine chromosome 7.
    Type: Grant
    Filed: August 14, 2007
    Date of Patent: May 26, 2009
    Assignee: Baylor College of Medicine
    Inventors: James R. Lupski, Cornelius F. Boerkoel, III, Hiroshi Takashima
  • Methods of gene therapy using nucleic acid sequences for ATP-binding cassette transporter
    Publication number: 20090029930
    Abstract: The present invention provides nucleic acid and amino acid sequences of an ATP binding cassette transporter and mutated sequences thereof associated with macular degeneration. Methods of detecting agents that modify ATP-binding cassette transporter comprising combining purified ATP binding cassette transporter and at least one agent suspected of modifying the ATP binding cassette transporter an observing a change in at least one characteristic associated with ATP binding cassette transporter. Methods of detecting macular degeneration is also embodied by the present invention.
    Type: Application
    Filed: December 11, 2006
    Publication date: January 29, 2009
    Applicants: Utah, University of, Research Foundation, Johns Hopkins University, Baylor College of Medicine, United States of America Department of Health and Human Services
    Inventors: Rando Allikmets, Kent L. Anderson, Michael Dean, Mark Leppert, Richard A. Lewis, Yixin Li, James R. Lupski, Jeremy Nathans, Amir Rattner, Noah F. Shroyer, Nanda Singh, Philip Smallwood, Hui Sun
  • Defects in periaxin associated with myelinopathies
    Patent number: 7273698
    Abstract: The present invention relates to defects in periaxin (PRX) associated with myelinopathies, including Charcot-Marie-Tooth syndrome and/or Dejerine-Sottas syndrome. Unrelated individuals having a myelinopathy from Dejerine-Sottas syndrome have recessive PRX mutations. The PRX locus maps to a region associated with a severe autosomal recessive demyelinating neuropathy and is also syntenic to the Prx location on murine chromosome 7.
    Type: Grant
    Filed: December 13, 2001
    Date of Patent: September 25, 2007
    Assignee: Baylor College of Medicine
    Inventors: James R. Lupski, Cornelius F. Boerkoel, III, Hiroshi Takashima
  • Methods of gene therapy using nucleic acid sequences for ATP-binding cassette transporter
    Patent number: 7192579
    Abstract: The present invention provides nucleic acid and amino acid sequences of an ATP binding cassette transporter and mutated sequences thereof associated with macular degeneration. Methods of detecting agents that modify ATP-binding cassette transporter comprising combining purified ATP binding cassette transporter and at least one agent suspected of modifying the ATP binding cassette transporter an observing a change in at least one characteristic associated with ATP binding cassette transporter. Methods of detecting macular degeneration is also embodied by the present invention.
    Type: Grant
    Filed: January 3, 2003
    Date of Patent: March 20, 2007
    Assignees: Baylor College of Medicine, Johns Hopkins University, University of Utah Research Foundation, United States of America, Represented by the Secretary, Department of Health and Human Services, c/o National Institute of Health
    Inventors: Rando Allikmets, Kent L. Anderson, Michael Dean, Mark Leppert, Richard A. Lewis, Yixin Li, James R. Lupski, Jeremy Nathans, Amir Rattner, Noah F. Shroyer, Nanda Singh, Philip Smallwood, Hui Sun
  • Methods of screening and diagnostics using ATP-binding cassette transporter
    Patent number: 7189511
    Abstract: The present invention provides nucleic acid and amino acid sequences of an ATP binding cassette transporter and mutated sequences thereof associated with macular degeneration. Methods of detecting agents that modify ATP-binding cassette transporter comprising combining purified ATP binding cassette transporter and at least one agent suspected of modifying the ATP binding cassette transporter an observing a change in at least one characteristic associated with ATP binding cassette transporter. Methods of detecting macular degeneration is also embodied by the present invention.
    Type: Grant
    Filed: January 3, 2003
    Date of Patent: March 13, 2007
    Assignees: Baylor College of Medicine, The United States of America as represented by the Department of Health and Human Services, University of Utah Research Foundation, John Hopkins University
    Inventors: Rando Allikmets, Kent L. Anderson, Michael Dean, Mark Leppert, Richard A. Lewis, Yixin Li, James R. Lupski, Jeremy Nathans, Amir Rattner, Noah F. Shroyer, Nanda Singh, Philip Smallwood, Hui Sun
  • Nucleic acid and amino acid sequences for ATP-binding cassette transporter and methods of screening for agents that modify ATP-binding cassette transporter
    Patent number: 7141420
    Abstract: The present invention provides nucleic acid and amino acid sequences of an ATP binding cassette transporter and mutated sequences thereof associated with macular degeneration. Methods of detecting agents that modify ATP-binding cassette transporter comprising combining purified ATP binding cassette transporter and at least one agent suspected of modifying the ATP binding cassette transporter an observing a change in at least one characteristic associated with ATP binding cassette transporter. Methods of detecting macular degeneration is also embodied by the present invention.
    Type: Grant
    Filed: January 10, 2003
    Date of Patent: November 28, 2006
    Assignees: University of Utah Research Foundation, Baylor College of Medicine, John Hopkins University, The United States of America as represented by the Department of Health and Human Services
    Inventors: Rando Allikmets, Kent L. Anderson, Michael Dean, Mark Leppert, Richard A. Lewis, Yixin Li, James R. Lupski, Jeremy Nathans, Amir Rattner, Noah F. Shroyer, Nanda Singh, Philip Smallwood, Hui Sun
  • Nucleic acid and amino acid sequences for ATP-binding cassette transporter and methods of screening for agents that modify ATP-binding cassette transporter
    Patent number: 6713300
    Abstract: The present invention provides nucleic acid and amino acid sequences of an ATP binding cassette transporter and mutated sequences thereof associated with macular degeneration. Methods of detecting agents that modify ATP-binding cassette transporter comprising combining purified ATP binding cassette transporter and at least one agent suspected of modifying the ATP binding cassette transporter an observing a change in at least one characteristic associated with ATP binding cassette transporter. Methods of detecting macular degeneration is also embodied by the present invention.
    Type: Grant
    Filed: February 27, 1998
    Date of Patent: March 30, 2004
    Assignees: University of Utah Research Foundation, Baylor College of Medicine, Johns Hopkins University, The United States of America as represented by the Department of Health and Human Services
    Inventors: Rando Allikmets, Kent L. Anderson, Michael Dean, Mark Leppert, Richard A. Lewis, Yixin Li, James R. Lupski, Jeremy Nathans, Amir Rattner, Noah F. Shroyer, Nanda Singh, Philip Smallwood, Hui Sun
  • Methods of screening and diagnostics using ATP-binding cassette transporter
    Publication number: 20030170852
    Abstract: The present invention provides nucleic acid and amino acid sequences of an ATP binding cassette transporter and mutated sequences thereof associated with macular degeneration. Methods of detecting agents that modify ATP-binding cassette transporter comprising combining purified ATP binding cassette transporter and at least one agent suspected of modifying the ATP binding cassette transporter an observing a change in at least one characteristic associated with ATP binding cassette transporter. Methods of detecting macular degeneration is also embodied by the present invention.
    Type: Application
    Filed: January 3, 2003
    Publication date: September 11, 2003
    Inventors: Rando Allikmets, Kent L. Anderson, Michael Dean, Mark Leppert, Richard A. Lewis, Yixin Li, James R. Lupski, Jeremy Nathans, Amir Rattner, Noah F. Shroyer, Nanda Singh, Philip Smallwood, Hui Sun
  • Methods of gene therapy using nucleic acid sequences for ATP-binding cassette transporter
    Publication number: 20030170853
    Abstract: The present invention provides nucleic acid and amino acid sequences of an ATP binding cassette transporter and mutated sequences thereof associated with macular degeneration. Methods of detecting agents that modify ATP-binding cassette transporter comprising combining purified ATP binding cassette transporter and at least one agent suspected of modifying the ATP binding cassette transporter an observing a change in at least one characteristic associated with ATP binding cassette transporter. Methods of detecting macular degeneration is also embodied by the present invention.
    Type: Application
    Filed: January 3, 2003
    Publication date: September 11, 2003
    Inventors: Rando Allikmets, Kent L. Anderson, Michael Dean, Mark Leppert, Richard A. Lewis, Yixin Li, James R. Lupski, Jeremy Nathans, Amir Rattner, Noah F. Shroyer, Nanda Singh, Philip Smallwood, Hui Sun
  • Nucleic acid and amino acid sequences for ATP-binding cassette transporter and methods of screening for agents that modify ATP-binding cassette transporter
    Publication number: 20030162276
    Abstract: The present invention provides nucleic acid and amino acid sequences of an ATP binding cassette transporter and mutated sequences thereof associated with macular degeneration. Methods of detecting agents that modify ATP-binding cassette transporter comprising combining purified ATP binding cassette transporter and at least one agent suspected of modifying the ATP binding cassette transporter an observing a change in at least one characteristic associated with ATP binding cassette transporter. Methods of detecting macular degeneration is also embodied by the present invention.
    Type: Application
    Filed: January 10, 2003
    Publication date: August 28, 2003
    Inventors: Rando Allikmets, Kent L. Anderson, Michael Dean, Mark Leppert, Richard A. Lewis, Yixin Li, James R. Lupski, Jeremy Nathans, Amir Rattner, Noah F. Shroyer, Nanda Singh, Philip Smallwood, Hui Sun
  • Defects in periaxin associated with myelinopathies
    Publication number: 20030039987
    Abstract: The present invention relates to defects in periaxin (PRX) associated with myelinopathies, including Charcot-Marie-Tooth syndrome and/or Dejerine-Sottas syndrome. Unrelated individuals having a myelinopathy from Dejerine-Sottas syndrome have recessive PRX mutations. The PRX locus maps to a region associated with a severe autosomal recessive demyelinating neuropathy and is also syntenic to the Prx location on murine chromosome 7.
    Type: Application
    Filed: December 13, 2001
    Publication date: February 27, 2003
    Inventors: James R. Lupski, Cornelius F. Boerkoel, Hiroshi Takashima
  • Methods of screening for agents that delay a cell cycle and compositions comprising era and an analogue of wild-type era
    Patent number: 6132954
    Abstract: The present invention provides for methods of screening for agents which delay the cell cycle and methods of delaying the cell cycle. Analogues of Era having arginine, histidine, or lysine at amino acid codon 17 are embodied by the present invention. Human and other homologs of bacterial Era amino acid and nucleic acid sequences are provided in the present invention. Vectors, host cells, protein preparations, cell cultures, and compositions comprising said analogue are also set forth in the present invention.
    Type: Grant
    Filed: August 20, 1997
    Date of Patent: October 17, 2000
    Assignees: Baylor College of Medicine, The United States of America as represented by the Department of Health and Human Services
    Inventors: James R. Lupski, Robert A. Britton, Donald L. Court, Bradford S. Powell
  • Molecular diagnosis of autosomal dominant Charcot-Marie-Tooth disease
    Patent number: 5780223
    Abstract: A description of an isolated CMTIA-REP sequence and DNA probes to the sequence. Methods for the use of such sequences and probes to detect peripheral neuropathies. A method for detecting Charcot-Marie-Tooth disease type 1 by measuring the presence or absence of a DNA duplication in a gene locus associated with the CMTIA-REP sequence. A method for detecting Hereditary Neuropathy with Liability to Pressure Palsies by measuring the presence or absence of a DNA deletion in a gene locus associated with the CMTIA-REP sequence.
    Type: Grant
    Filed: September 30, 1993
    Date of Patent: July 14, 1998
    Assignee: Baylor College of Medicine
    Inventors: James R. Lupski, Liu Pentao, Benjamin B. Roa, Nacer E. Abbas, Pragna I. Patel
  • Fingerprinting bacterial strains using repetitive DNA sequence amplification
    Patent number: 5691136
    Abstract: Oligonucleotide primers and methods for identifying strains of bacteria by genomic fingerprinting are described. The methods are applicable to a variety of samples. The testing procedure includes amplifying the bacterial DNA in the sample to be tested by adding a pair of outwardly-directed primers to the sample. The primers are capable of hybridizing to repetitive DNA sequences in the bacterial DNA and extending outwardly from one hybridizable repetitive sequence to another hybridizable repetitive sequence. After amplification the extension products are separated by size and the specific strain of bacteria is determined by measuring the pattern of sized extension products. The procedure to identify strains of bacteria by fingerprinting has a variety of uses including: identifying bacteria in infections, agriculture and horticulture plots, bioremediation, food monitoring, production monitoring and quality assurance and quality control.
    Type: Grant
    Filed: August 24, 1993
    Date of Patent: November 25, 1997
    Assignee: Baylor College of Medicine
    Inventors: James R. Lupski, James Versalovic, Thearith Koeuth