Search Patents
  • Cystic fibrosis gene
    Patent number: 6201107
    Abstract: The cystic fibrosis gene and its gene product are described for both the normal and mutant forms. The genetic and protein information is used in developing DNA diagnosis, protein diagnosis, carrier and patient screening, drug and gene therapy, cloning of the gene and manufacture of the protein, and development of cystic fibrosis affected animals.
    Type: Grant
    Filed: June 6, 1995
    Date of Patent: March 13, 2001
    Assignees: HSC Research Development Corporation, The Board of Regents, Acting for and on Behalf of the University of Michigan
    Inventors: Tsui Lap-Chee, John R. Riordan, Francis S. Collins, Johanna M. Rommens, Michael C. Iannuzzi, Bat-Sheva Kerem, Mitchell L. Drumm, Manuel Buchwald
  • Probe-based analysis of heterozygous mutations using two-color labelling
    Patent number: 6013449
    Abstract: The invention provides methods of analyzing a nucleic acid in a target sample for variant alleles. In such methods, a first-labelled control sample and a second-labelled target sample are hybridized to at least one set of probes. The control sample comprises a homozygous reference allele. The target sample comprises the homozygous reference allele, or variant alleles differing from the reference allele at a locus, or one variant allele differing from the reference allele at the locus and one reference allele. The probes in the probe set span the locus and are complementary to the reference allele. After hybridization the intensity of first and second label bound to each probe in the set is measured. This information is then used to indicate the presence of one variant allele and one reference allele, or the presence of two variant alleles in the target sample.
    Type: Grant
    Filed: November 26, 1997
    Date of Patent: January 11, 2000
    Assignee: The United States of America as represented by the Department of Health and Human Services
    Inventors: Joseph G. Hacia, Mark S. Chee, Francis S. Collins
  • Probe-based analysis of heterozygous mutations using two-color labelling
    Patent number: 6342355
    Abstract: The invention provides methods of analyzing a nucleic acid in a target sample for variant alleles. In such methods, a first-labelled control sample and a second-labelled target sample are hybridized to at least one set of probes. The control sample comprises a homozygous reference allele. The target sample comprises the homozygous reference allele, or variant alleles differing from the reference allele at a locus, or one variant allele differing from the reference allele at the locus and one reference allele. The probes in the probe set span the locus and are complementary to the reference allele. After hybridization the intensity of first and second label bound to each probe in the set is measured. This information is then used to indicate the presence of one variant allele and one reference allele, or the presence of two variant alleles in the target sample.
    Type: Grant
    Filed: January 5, 2000
    Date of Patent: January 29, 2002
    Assignees: The United States of America as represented by the Department of Health & Human Services, Affymetrix, Inc.
    Inventors: Joseph G. Hacia, Mark S. Chee, Francis S. Collins
  • cDNAs associated with ataxia-telangiectasia
    Patent number: 5777093
    Abstract: A purified and isolated gene, designated ATM, mutations of which cause ataxia-telangiectasia.
    Type: Grant
    Filed: July 28, 1995
    Date of Patent: July 7, 1998
    Assignee: RAMOT-University Authority for Applied Research & Industrial Development Ltd.
    Inventors: Yosef Shiloh, Danilo A. Tagle, Francis S. Collins
  • Mutated proteins associated with ataxia-telangiectasia
    Patent number: 5728807
    Abstract: A purified and isolated gene, designated ATM, mutations of which cause ataxia-telangiectasia.
    Type: Grant
    Filed: June 21, 1995
    Date of Patent: March 17, 1998
    Assignee: Ramot-University Authority For Applied Research and Industrial Development, Ltd.
    Inventors: Yosef Shiloh, Danilo A. Tagle, Francis S. Collins
  • METHODS FOR TREATING PROGEROID LAMINOPATHIES USING OLIGONUCLEOTIDE ANALOGUES TARGETING HUMAN LMNA
    Publication number: 20170051278
    Abstract: Provided are methods of treatment in subjects having progeroid diseases and related conditions which rely upon LMNA-targeted antisense oligonucleotides for reducing expression of one or more aberrantly spliced LMNA mRNA isoforms that encode progerin.
    Type: Application
    Filed: March 29, 2016
    Publication date: February 23, 2017
    Inventors: Ryszard Kole, Francis S. Collins, Michael R. Erdos, Kan Cao
  • METHODS FOR TREATING PROGEROID LAMINOPATHIES USING OLIGONUCLEOTIDE ANALOGUES TARGETING HUMAN LMNA
    Publication number: 20180271893
    Abstract: Provided are methods of treatment in subjects having progeroid diseases and related conditions which rely upon LMNA-targeted antisense oligonucleotides for reducing expression of one or more aberrantly spliced LMNA mRNA isoforms that encode progerin.
    Type: Application
    Filed: October 6, 2017
    Publication date: September 27, 2018
    Inventors: RYSZARD KOLE, Francis S. Collins, Michael R. Erdos, Kan Cao
  • OLIGONUCLEOTIDE ANALOGUES TARGETING HUMAN LMNA
    Publication number: 20190127735
    Abstract: Provided are LMNA-targeted antisense oligonucleotides for reducing expression of one or more aberrantly spliced LMNA mRNA isoforms that encode progerin.
    Type: Application
    Filed: April 28, 2017
    Publication date: May 2, 2019
    Applicants: Sarepta Therapeutics, Inc., THE UNITED STATES OF AMERICA, AS REPRESENTED BY THE SECRETARY, DEPT. OF HEALTH AND HUMAN SERVICES, UNIVERSITY OF MARYLAND
    Inventors: Michael R. Erdos, Francis S. Collins, Kan Cao, Ryszard Kole, Richard Keith Bestwick, Leslie B. Gordon
  • Oligonucleotide analogues targeting human LMNA
    Patent number: 11802283
    Abstract: Provided are LMNA-targeted antisense oligonucleotides for reducing expression of one or more aberrantly spliced LMNA mRNA isoforms that encode progerin.
    Type: Grant
    Filed: September 17, 2020
    Date of Patent: October 31, 2023
    Assignees: Sarepta Therapeutics, Inc., The United States of America, as rep. by the Secretary, Dept. of Health and Human Services, The Progeria Research Foundation
    Inventors: Michael R. Erdos, Francis S. Collins, Kan Cao, Ryszard Kole, Richard Keith Bestwick, Leslie B. Gordon
  • OLIGONUCLEOTIDE ANALOGUES TARGETING HUMAN LMNA
    Publication number: 20210010001
    Abstract: Provided are LMNA-targeted antisense oligonucleotides for reducing expression of one or more aberrantly spliced LMNA mRNA isoforms that encode progerin.
    Type: Application
    Filed: September 17, 2020
    Publication date: January 14, 2021
    Applicants: Sarepta Therapeutics, Inc., The Progeria Research Foundation, THE UNITED STATES OF AMERICA, AS REPRESENTED BY THE SECRETARY, DEPT. OF HEALTH AND HUMAN SERVICES, University of Maryland, The Progeria Research Foundation
    Inventors: Michael R. Erdos, Francis S. Collins, Kan Cao, Ryszard Kole, Richard Keith Bestwick, Leslie B. Gordon
  • Oligonucleotide analogues targeting human LMNA
    Patent number: 10822608
    Abstract: Provided are LMNA-targeted antisense oligonucleotides for reducing expression of one or more aberrantly spliced LMNA mRNA isoforms that encode progerin.
    Type: Grant
    Filed: April 28, 2017
    Date of Patent: November 3, 2020
    Assignees: Sarepta Therapeutics, Inc., THE UNITED STATES OF AMERICA, AS REPRESENTED BY THE SECRETARY, DEPT. OF HEALTH AND HUMAN SERVICES, University of Maryland, The Progeria Research Foundation
    Inventors: Michael R. Erdos, Francis S. Collins, Kan Cao, Ryszard Kole, Richard Keith Bestwick, Leslie B. Gordon
  • Methods for treating progeroid laminopathies using oligonucleotide analogues targeting human LMNA
    Patent number: 9326992
    Abstract: Provided are methods of treatment in subjects having progeroid diseases and related conditions which rely upon LMNA-targeted antisense oligonucleotides for reducing expression of one or more aberrantly spliced LMNA mRNA isoforms that encode progerin.
    Type: Grant
    Filed: December 7, 2012
    Date of Patent: May 3, 2016
    Assignees: Sarepta Therapeutics, Inc., The United States of America, as represented by the Secretary, Department of Health and Human Services, University of Maryland
    Inventors: Ryszard Kole, Francis S. Collins, Michael R. Erdos, Kan Cao
  • Methods for treating progeroid laminopathies using oligonucleotide analogues targeting human LMNA
    Patent number: 9833468
    Abstract: Provided are methods of treatment in subjects having progeroid diseases and related conditions which rely upon LMNA-targeted antisense oligonucleotides for reducing expression of one or more aberrantly spliced LMNA mRNA isoforms that encode progerin.
    Type: Grant
    Filed: March 29, 2016
    Date of Patent: December 5, 2017
    Assignees: Sarepta Therapeutics, Inc., The United States of America, as represneted by the Secretary, Dept. of Health and Human Services, University of Maryland
    Inventors: Ryszard Kole, Francis S. Collins, Michael R. Erdos, Kan Cao
  • Methods for treating progeroid laminopathies using oligonucleotide analogues targeting human LMNA
    Patent number: 10398721
    Abstract: Provided are methods of treatment in subjects having progeroid diseases and related conditions which rely upon LMNA-targeted antisense oligonucleotides for reducing expression of one or more aberrantly spliced LMNA mRNA isoforms that encode progerin.
    Type: Grant
    Filed: October 6, 2017
    Date of Patent: September 3, 2019
    Assignees: SAREPTA THERAPEUTICS, INC., THE UNITED STATES OF AMERICA, AS REPRESENTED BY THE SECRETARY, DEPARTMENT OF HEALTH AND HUMAN SERVICES, UNIVERSITY OF MARYLAND, PROGERIA RESEARCH FOUNDATION, INC.
    Inventors: Ryszard Kole, Francis S. Collins, Michael R. Erdos, Kan Cao, Leslie B. Gordon
  • Neurofibromatosis gene
    Patent number: 6238861
    Abstract: The invention relates to the gene involved in the von Recklinghausen neurofibromatosis (NF1) disease process and to the identification, isolation and cloning of a nucleic acid sequence corresponding to the gene. The invention further relates to the NF1 gene product and sequence and antibodies raised thereto. The invention also relates to methods of screening for NF1 and NF1 diagnosis, as well as conventional treatment and gene therapy utilizing recombinant technologies.
    Type: Grant
    Filed: August 2, 1993
    Date of Patent: May 29, 2001
    Assignee: The Regents of the University of Michigan
    Inventors: Francis S. Collins, Margaret R. Wallace, Douglas A. Marchuk, Lone B. Andersen, David H. Gutmann
  • Markers for detection of chromosome 16 rearrangements
    Patent number: 5869611
    Abstract: The breakpoints of the pericentric inversion of chromosome 16 have been cloned. Two genes, one at each breakpoint, have also been identified, as well as several forms of the inversion 16 fusion gene. Diagnostic applications for chromosome 16 abnormalities and, particularly acute myeloid leukemia are also within the scope of the present invention.
    Type: Grant
    Filed: November 1, 1996
    Date of Patent: February 9, 1999
    Assignees: The Regents Of The University Of Michigan and The Board of Regents, University of Texas System
    Inventors: Pu Liu, Francis S. Collins, Michael J. Siciliano, David Claxton
  • Markers for detection of chromosome 16 rearrangements
    Patent number: 5837457
    Abstract: The breakpoints of the pericentric inversion of chromosome 16 have been cloned. Two genes, one at each breakpoint, have also been identified, as well as several forms of the inversion 16 fusion gene. Diagnostic applications for chromosome 16 abnormalities and, particularly acute myeloid leukemia are also within the scope of the present invention.
    Type: Grant
    Filed: September 25, 1995
    Date of Patent: November 17, 1998
    Assignees: The Regents of the University of Michgan, The Board of Regents University of Texas System
    Inventors: Pu Liu, Francis S. Collins, Michael J. Siciliano, David Claxton
  • Cystic fibrosis gene
    Patent number: 6730777
    Abstract: The cystic fibrosis gene and its gene product are described for both the normal and mutant forms. The genetic and protein information is used in developing DNA diagnosis, protein diagnosis, carrier and patient screening, drug and gene therapy, cloning of the gene and manufacture of the protein, and development of cystic fibrosis affected animals.
    Type: Grant
    Filed: June 6, 1995
    Date of Patent: May 4, 2004
    Assignees: HSC Research Development Corporation, University of Michigan
    Inventors: Lap-Chee Tsui, John R. Riordan, Francis S. Collins, Johanna M. Rommens, Michael C. Iannuzzi, Bat-Sheva Kerem, Mitchell L. Drumm, Manuel Buchwald
  • Cystic fibrosis gene
    Patent number: 6984487
    Abstract: The cystic fibrosis gene and its gene product are described for both the normal and mutant forms. The genetic and protein information is used in developing DNA diagnosis, protein diagnosis, carrier and patient screening, drug and gene therapy, cloning of the gene and manufacture of the protein, and development of cystic fibrosis affected animals.
    Type: Grant
    Filed: September 20, 1993
    Date of Patent: January 10, 2006
    Assignees: HSC Research Development Corporation, The Board of Regents Acting For and on Behalf of The University of Michigan
    Inventors: Lap-Chee Tsui, John R. Riordan, Francis S. Collins, Johanna M. Rommens, Michael C. Iannuzzi, Bat-Sheva Kerem, Mitchell L. Drumm, Manuel Buchwald
  • Cystic fibrosis gene
    Patent number: 6902907
    Abstract: The cystic fibrosis gene and its gene product are described for both the normal and mutant forms. The genetic and protein information is used in developing DNA diagnosis, protein diagnosis, carrier and patient screening, drug and gene therapy, cloning of the gene and manufacture of the protein, and development of cystic fibrosis affected animals.
    Type: Grant
    Filed: June 2, 1994
    Date of Patent: June 7, 2005
    Assignees: HSC Research Development Corporation, The Board of Regents Acting for and on Behalf of The University of Michigan
    Inventors: Lap-Chee Tsui, John R. Riordan, Francis S. Collins, Johanna M. Rommens, Michael C. Iannuzzi, Bat-Sheva Kerem, Mitchell L. Drumm, Manuel Buchwald
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