Patents by Inventor Robert J. Desnick

Robert J. Desnick 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).

  • Compositions and methods for inhibiting expression of the ALAS1 gene
    Patent number: 9631193
    Abstract: The invention relates to double-stranded ribonucleic acid (dsRNA) compositions targeting the ALAS1 gene, and methods of using such dsRNA compositions to alter (e.g., inhibit) expression of ALAS1.
    Type: Grant
    Filed: April 10, 2013
    Date of Patent: April 25, 2017
    Assignees: ALNYLAM PHARMACEUTICALS, INC., ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
    Inventors: Brian Bettencourt, Kevin Fitzgerald, William Querbes, Makiko Yasuda, Robert J. Desnick
  • COMPOSITIONS AND METHODS FOR INHIBITING EXPRESSION OF THE ALAS1 GENE
    Publication number: 20160244766
    Abstract: The invention relates to double-stranded ribonucleic acid (dsRNA) compositions targeting the ALAS1 gene, and methods of using such dsRNA compositions to alter (e.g., inhibit) expression of ALAS1.
    Type: Application
    Filed: October 3, 2014
    Publication date: August 25, 2016
    Applicants: ALNYLAM PHARMACEUTICALS, INC., ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
    Inventors: Brian Bettencourt, Kevin Fitzgerald, William Querbes, Robert J. Desnick, Makiko Yasuda
  • DOSE ESCALATION ENZYME REPLACEMENT THERAPY FOR TREATING ACID SPHINGOMYELINASE DEFICIENCY
    Publication number: 20160120957
    Abstract: The invention relates to dose escalation enzyme replacement therapy using acid sphingomyelinase (ASM) for the treatment of human subjects having acid sphingomyelinase deficiency (ASMD), and, in particular, patients with non-neurological manifestations of Niemann-Pick Disease (NPD), and in certain embodiments, NPD type B.
    Type: Application
    Filed: July 8, 2015
    Publication date: May 5, 2016
    Applicants: GENZYME CORPORATION, ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
    Inventors: Edward H. Schuchman, Robert J. Desnick, Gerald F. Cox, Laura P. Andrews, James M. Murray
  • COMPOSITIONS AND METHODS FOR INHIBITING EXPRESSION OF THE ALAS1 GENE
    Publication number: 20160115476
    Abstract: The invention relates to double-stranded ribonucleic acid (dsRNA) compositions targeting the ALAS1 gene, and methods of using such dsRNA compositions to alter (e.g., inhibit) expression of ALAS1.
    Type: Application
    Filed: July 31, 2015
    Publication date: April 28, 2016
    Applicants: ALNYLAM PHARMACEUTICALS, INC., ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
    Inventors: Brian Bettencourt, Kevin Fitzgerald, William Querbes, Robert J. Desnick, Makiko Yasuda
  • Compositions and methods for inhibiting expression of the ALAS1 gene
    Patent number: 9133461
    Abstract: The invention relates to double-stranded ribonucleic acid (dsRNA) compositions targeting the ALAS1 gene, and methods of using such dsRNA compositions to alter (e.g., inhibit) expression of ALAS1.
    Type: Grant
    Filed: March 15, 2013
    Date of Patent: September 15, 2015
    Assignees: Alnylam Pharmaceuticals, Inc., Icahn School of Medicine at Mount Sinai
    Inventors: Brian Bettencourt, Kevin Fitzgerald, William Querbes, Robert J. Desnick, Makiko Yasuda
  • Dose escalation enzyme replacement therapy for treating acid sphingomyelinase deficiency
    Patent number: 9114139
    Abstract: The invention relates to dose escalation enzyme replacement therapy using acid sphingomyelinase (ASM) for the treatment of human subjects having acid sphingomyelinase deficiency (ASMD), and, in particular, patients with non-neurological manifestations of Niemann-Pick Disease (NPD), and in certain embodiments, NPD type B.
    Type: Grant
    Filed: January 16, 2014
    Date of Patent: August 25, 2015
    Assignees: Icahn School of Medicine at Mount Sinai, Genzyme Corporation
    Inventors: Edward H. Schuchman, Robert J. Desnick, Gerald F. Cox, Laura P. Andrews, James M. Murray
  • COMPOSITIONS AND METHODS FOR INHIBITING EXPRESSION OF THE ALAS1 GENE
    Publication number: 20150111841
    Abstract: The invention relates to double-stranded ribonucleic acid (dsRNA) compositions targeting the ALAS1 gene, and methods of using such dsRNA compositions to alter (e.g., inhibit) expression of ALAS1.
    Type: Application
    Filed: April 10, 2013
    Publication date: April 23, 2015
    Applicant: ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
    Inventors: Brian Bettencourt, Kevin Fitzgerald, William Querbes, Makiko Yasuda, Robert J. Desnick
  • DOSE ESCALATION ENZYME REPLACEMENT THERAPY FOR TREATING ACID SPHINGOMYELINASE DEFICIENCY
    Publication number: 20140335070
    Abstract: The invention relates to dose escalation enzyme replacement therapy using acid sphingomyelinase (ASM) for the treatment of human subjects having acid sphingomyelinase deficiency (ASMD), and, in particular, patients with non-neurological manifestations of Niemann-Pick Disease (NPD), and in certain embodiments, NPD type B.
    Type: Application
    Filed: January 16, 2014
    Publication date: November 13, 2014
    Applicants: Genzyme Corporation, Icahn School of Medicine at Mount Sinai
    Inventors: Edward H. Schuchman, Robert J. Desnick, Gerald F. Cox, Laura P. Andrews, James M. Murray
  • Materials and Methods for Identifying Spinal Muscular Atrophy Carriers
    Publication number: 20140199695
    Abstract: Materials and methods for identifying carriers of genetic determinants of spinal muscular atrophy are disclosed. In particular, polymorphisms in linkage disequilibrium are associated as markers of spinal muscular atrophy alleles detectable by various techniques, including multiplex ligation-dependent probe analysis, sequence analysis, and RFLP detection. The materials and methods of the disclosure are particularly useful in identifying silent (2+0) carriers of spinal muscular atrophy in which two copies of the SMN1 gene are located on a single human chromosome 5 and no copies of the gene are located on the chromosome 5 homolog.
    Type: Application
    Filed: June 7, 2012
    Publication date: July 17, 2014
    Applicant: ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
    Inventors: Lisa Edelmann, Robert J. Desnick
  • Dose escalation enzyme replacement therapy for treating acid sphingomyelinase deficiency
    Patent number: 8709408
    Abstract: The invention relates to dose escalation enzyme replacement therapy using acid sphingomyelinase (ASM) for the treatment of human subjects having acid sphingomyelinase deficiency (ASMD), and, in particular, patients with non-neurological manifestations of Niemann-Pick Disease (NPD), and in certain embodiments, NPD type B.
    Type: Grant
    Filed: November 16, 2012
    Date of Patent: April 29, 2014
    Assignees: Icahn School of Medicine at Mount Sinai, Genzyme Corporation
    Inventors: Edward H. Schuchman, Robert J. Desnick, Gerald F. Cox, Laura P. Andrews, James M. Murray
  • Dose escalation enzyme replacement therapy for treating acid sphingomyelinase deficiency
    Patent number: 8658162
    Abstract: The invention relates to dose escalation enzyme replacement therapy using acid sphingomyelinase (ASM) for the treatment of human subjects having acid sphingomyelinase deficiency (ASMD), and, in particular, patients with non-neurological manifestations of Niemann-Pick Disease (NPD), and in certain embodiments, NPD type B.
    Type: Grant
    Filed: November 16, 2012
    Date of Patent: February 25, 2014
    Assignees: Icahn School of Medicine at Mount Sinai, Genzyme Corporation
    Inventors: Edward H. Schuchman, Robert J. Desnick, Gerald F. Cox, Laura P. Andrews, James M. Murray
  • COMPOSITIONS AND METHODS FOR INHIBITING EXPRESSION OF THE ALAS1 GENE
    Publication number: 20130281511
    Abstract: The invention relates to double-stranded ribonucleic acid (dsRNA) compositions targeting the ALAS1 gene, and methods of using such dsRNA compositions to alter (e.g., inhibit) expression of ALAS1.
    Type: Application
    Filed: March 15, 2013
    Publication date: October 24, 2013
    Inventors: Brian Bettencourt, Kevin Fitzgerald, William Querbes, Robert J. Desnick, Makiko Yasuda
  • Dose escalation enzyme replacement therapy for treating acid sphingomyelinase deficiency
    Patent number: 8349319
    Abstract: The invention relates to dose escalation enzyme replacement therapy using acid sphingomyelinase (ASM) for the treatment of human subjects having acid sphingomyelinase deficiency (ASMD), and, in particular, patients with non-neurological manifestations of Niemann-Pick Disease (NPD), and in certain embodiments, NPD type B.
    Type: Grant
    Filed: August 28, 2010
    Date of Patent: January 8, 2013
    Assignees: Mount Sinai School of Medicine, Genzyme Corporation
    Inventors: Edward H. Schuchman, Robert J. Desnick, Gerald F. Cox, Laura P. Andrews, James M. Murray
  • DOSE ESCALATION ENZYME REPLACEMENT THERAPY FOR TREATING ACID SPHINGOMYELINASE DEFICIENCY
    Publication number: 20110052559
    Abstract: The invention relates to dose escalation enzyme replacement therapy using acid sphingomyelinase (ASM) for the treatment of human subjects having acid sphingomyelinase deficiency (ASMD), and, in particular, patients with non-neurological manifestations of Niemann-Pick Disease (NPD), and in certain embodiments, NPD type B.
    Type: Application
    Filed: August 28, 2010
    Publication date: March 3, 2011
    Inventors: Edward H. Schuchman, Robert J. Desnick, Gerald F. Cox, Laura P. Andrews, James M. Murray
  • Chaperone-based therapy for Niemann-Pick disease
    Patent number: 7750050
    Abstract: The present invention provides a method for treating individuals affected with the acid sphingomyelinase-deficient forms of Niemann-Pick disease (i.e., Type A or Type B Niemann-Pick) by administering small molecules as specific molecular “chaperones” for the deficient acid sphingomyelinase (ASM) enzyme associated with the disease. The molecules are ceramide, sphingomyelin, or phosphonucleotide analogues.
    Type: Grant
    Filed: November 24, 2004
    Date of Patent: July 6, 2010
    Assignee: Mount Sinai School of Medicine of New York University
    Inventors: Edward H. Schuchman, Robert J. Desnick
  • Acid sphingomyelinase gene and diagnosis of Niemann-pick disease
    Publication number: 20030153739
    Abstract: The present invention relates to the acid sphingomyelinase gene and to methods of diagnosing Niemann-Pick disease. It is based, at least in part, on the cloning and expression of the full-length cDNA encoding acid sphingomyelinase and on the discovery of mutations in the acid sphingomyelinase gene of Ashkenazi Jewish Niemann-Pick disease patients.
    Type: Application
    Filed: January 28, 2003
    Publication date: August 14, 2003
    Applicant: Mount Sinai Medical Center
    Inventors: Edward H. Schuchman, Robert J. Desnick
  • Method for enhancing mutant enzyme activity in gaucher disease
    Publication number: 20030119874
    Abstract: Method for enhancing in a mammalian cell the activity of an enzyme associated with Gaucher Disease by administering a competitive inhibitor of glucocerebrosidase in an amount effective to enhance the activity of the enzyme. Preferred compounds for use in the method are imino sugars and related compounds. In particular, C8-12-alkyl derivatives of N-alkyl-deoxynojirimycin, isofagomine compounds, and calystegine compoiunds are effective to enhance glucocerebrosidase activity.
    Type: Application
    Filed: November 26, 2002
    Publication date: June 26, 2003
    Applicant: Mount Sinai School of Medicine
    Inventors: Jian-Qiang Fan, Satoshi Ishii, Naoki Asano, Robert J. Desnick
  • Method for enhancing mutant enzyme activities in lysosomal storage disorders
    Patent number: 6583158
    Abstract: Method for enhancing in a mammalian cell the activity of an enzyme associated with a lysosomal storage disorder by administering a competitive inhibitor of the enzyme in an amount effective to enhance the activity of the enzyme. Preferred compounds for use in the method are imino sugars and related compounds.
    Type: Grant
    Filed: June 26, 2000
    Date of Patent: June 24, 2003
    Assignee: Mount Sinai School of Medicine of New York University
    Inventors: Jian-Qiang Fan, Satoshi Ishii, Naoki Asano, Robert J. Desnick
  • Methods for diagnosing and treating a disease mediated by decreased MMP-2 function
    Publication number: 20030087863
    Abstract: The present invention relates to a method for the prevention or treatment of a disease mediated by decreased MMP-2 function. This may result from an aberrant interaction of molecules that stimulate or inhibit MMP-2 protein synthesis, stability, or function, as well as from mutations in the coding or regulatory regions of the gene encoding MMP-2. The invention also provides a method for identifying a substance useful in this context. It further contemplates a method for diagnosing such a disease.
    Type: Application
    Filed: June 28, 2002
    Publication date: May 8, 2003
    Applicant: Mount Sinai School of Medicine
    Inventors: John A. Martignetti, Robert J. Desnick
  • Acid sphingomyelinase protein and methods of treating type B Niemann-Pick disease
    Patent number: 6541218
    Abstract: The present invention relates to the acid sphingomyelinase gene and to methods of diagnosing Niemann-Pick disease. It is based, at least in part, on the cloning and expression of the full-length cDNA encoding acid sphingomyelinase and on the discovery of mutations in the acid sphingomyelinase gene of Ashkenazi Jewish Niemann-Pick disease patients.
    Type: Grant
    Filed: June 29, 1998
    Date of Patent: April 1, 2003
    Assignee: The Mount Sinai School of Medicine of the city University of New York
    Inventors: Edward H. Schuchman, Robert J. Desnick