DR. ROBERT J DESNICK, PH.D., M.D.
Medical Practice at Gustave L Levy Pl, New York, NY
License number
New York 130912
Category
Medical Practice
Type
Clinical Genetics (M.D.)
Address
Address
1 Gustave L Levy Pl, New York, NY 10029
Phone
(212) 659-6700
(212) 360-1809 (Fax)
(212) 360-1809 (Fax)
Personal information
See more information about ROBERT J DESNICK at radaris.comName
Address
Phone
170 E 93Rd St, New York, NY 10128
170 93Rd St, New York, NY 10128
329 4Th St, New York, NY 10014
329 4Th St, New York, NY 10014
170 E 93Rd St, New York, NY 10128
Organization information
See more information about ROBERT J DESNICK at bizstanding.comMount Sinai Medical Center - Robert J Desnick MD
1425 Madison Ave #1434, New York, NY 10029
Categories:
Physicians & Surgeons
Phone:
(212) 659-6700 (Phone)
Products:
Military & Veteran's Services
Professional information
Dr. Robert J Desnick, New York NY - MD (Doctor of Medicine)
Specialties:
Clinical Genetics, Clinical Biochemical Genetics, Clinical Molecular Genetics
Address:
Mount Sinai Medical Ctr Gentcs
1428 Madison Ave SUITE 12, New York 10029
(212) 241-6947 (Phone)
1428 Madison Ave SUITE 12, New York 10029
(212) 241-6947 (Phone)
Certifications:
Clinical Biochemical Genetics, 1982, Clinical Genetics, 1982, Clinical Molecular Genetics, 2010
Awards:
Healthgrades Honor Roll
Languages:
English
Education:
Medical School
University of Mn Med Sch
Graduated: 1972
U Minn Hosps
University of Mn Med Sch
Graduated: 1972
U Minn Hosps
Cloning And Expression Of Biologically Active .Alpha.-N-Acetylgalactosaminidase
US Patent:
5491075, Feb 13, 1996
Filed:
Jun 17, 1994
Appl. No.:
8/261578
Inventors:
Robert J. Desnick - New York NY
David F. Bishop - New York NY
Yiannis A. Ioannou - New York NY
Anne M. Wang - New York NY
David F. Bishop - New York NY
Yiannis A. Ioannou - New York NY
Anne M. Wang - New York NY
Assignee:
The Mount Sinai School of Medicine of the City University of New York - New York NY
International Classification:
C12N 1562, C12N 940, C12N 1556
US Classification:
435 697
Abstract:
The present invention involves the production of human. alpha. -GalNAc by cloning and expressing the. alpha. -GalNAc coding sequence in eukaryotic host cell expressions systems. The eukaryotic expression systems, and in particular the mammalian host cell expression systems described herein provide for the appropriate co-translational and post-translation modifications required or proper processing, e. g. , glycosylation, phosphorylation, etc. and sorting of the expression product so that an active enzyme is produced.
The. alpha. -GalNAc produced in accordance with the invention may be used in the treatment of Schindler disease or for the hydrolysis of. alpha. -N-acetylgalactosaminyl moieties in various glycoconjugates.
Cloning And Expression Of Biologically Active .Alpha.-N-Acetylgalactosaminidase
US Patent:
5382524, Jan 17, 1995
Filed:
Oct 24, 1990
Appl. No.:
7/602608
Inventors:
Robert J. Desnick - New York NY
David F. Bishop - New York NY
Yiannis A. Ioannou - New York NY
Anne M. Wang - New York NY
David F. Bishop - New York NY
Yiannis A. Ioannou - New York NY
Anne M. Wang - New York NY
Assignee:
The Mount Sinai School of Medicine of the City University of New York - New York NY
International Classification:
C12N 1500, C12N 940, C12N 924
US Classification:
435200
Abstract:
The present invention involves the production of human. alpha. -GalNAc by cloning and expressing the. alpha. -GalNAc coding sequence in eukaryotic host cell expressions systems. The eukaryotic expression systems, and in particular the mammalian host cell expression systems described herein provide for the appropriate co-translational and post-translation modifications required or proper processing, e. g. , glycosylation, phosphorylation, etc. and sorting of the expression product so that an active enzyme is produced.
The. alpha. -GalNAc produced in accordance with the invention may be used in the treatment of Schindler disease or for the hydrolysis of. alpha. -N-acetylgalactosaminyl moieties in various glycoconjugates.
Method And Kits For Detecting A Polymorphism In .Delta.-Aminolevulinate Dehydratase Gene Which Is Associated With An Altered Susceptibility To Lead Poisoning
US Patent:
5639607, Jun 17, 1997
Filed:
Feb 14, 1994
Appl. No.:
8/195744
Inventors:
Robert J. Desnick - New York NY
James G. Wetmur - Scarsdale NY
James G. Wetmur - Scarsdale NY
Assignee:
Mount Sinai School of Medicine of the City University of New York - New York NY
International Classification:
C12Q 168, C12P 1934, C07H 2104
US Classification:
435 6
Abstract:
A method is disclosed for detecting a polymorphism in the. delta. -aminolevulinate dehydratase gene which is associated with an altered susceptibility to lead poisoning. A point mutation which generates an MspI restriction endonuclease recognition site was found in the ALAD2 allele of the. delta. -aminolevulinate dehydratase gene which is not present in the ALAD1 allele. Kit containing primers for the amplification of the polymorphic region of the ALAD gene are provided.
Cloning And Expression Of Biologically Active Human .Alpha.-Galactosidase A
US Patent:
5356804, Oct 18, 1994
Filed:
Oct 24, 1990
Appl. No.:
7/602824
Inventors:
Robert J. Desnick - New York NY
David F. Bishop - New York NY
Yiannis A. Ioannou - New York NY
David F. Bishop - New York NY
Yiannis A. Ioannou - New York NY
Assignee:
Mount Sinai School of Medicine of the City of New York - New York NY
International Classification:
C12N 940, C12N 1500, C12N 500, C12N 120
US Classification:
435208
Abstract:
The present invention involves the production of large quantities of human. alpha. -Gal A by cloning and expressing the. alpha. -Gal A coding sequence in eukaryotic host cell expression systems. The eukaryotic expression systems, and in particular the mammalian host cell expression system described herein provide for the appropriate cotranslational and posttranslational modifications required for proper processing, e. g. , glycosylation, phosphorylation, etc. and sorting of the expression product so that an glycosylation, phosphorylation, etc. and sorting of the expression product so that an active enzyme is produced. In addition, the expression of fusion proteins which simplify purification is described.
Using the methods described herein, the recombinant. alpha. -Gal A is secreted by the engineered host cells so that it is recovered from the culture medium in good yield. The. alpha.
Methods For Diagnosing And Treating A Disease Mediated By Decreased Mmp-2 Function
US Patent:
2003008, May 8, 2003
Filed:
Jun 28, 2002
Appl. No.:
10/185433
Inventors:
John Martignetti - Chappaqua NY, US
Robert Desnick - New York NY, US
Robert Desnick - New York NY, US
Assignee:
Mount Sinai School of Medicine
International Classification:
A61K048/00, A61K038/46, A61K039/395
US Classification:
514/044000, 424/146100, 424/094650
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.
Method For Enhancing Mutant Enzyme Activities In Lysosomal Storage Disorders
US Patent:
2002019, Dec 26, 2002
Filed:
Jun 14, 2002
Appl. No.:
10/172604
Inventors:
Jian-Qiang Fan - New York NY, US
Satoshi Ishii - Oita, JP
Naoki Asano - Ishikawa, JP
Robert Desnick - New York NY, US
Satoshi Ishii - Oita, JP
Naoki Asano - Ishikawa, JP
Robert Desnick - New York NY, US
Assignee:
Mount Sinai School of Medicine
International Classification:
A61K031/513
US Classification:
514/269000
Abstract:
Method fore 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 Prefcrred compounds for use in the method are imino sugars and related compounds
Method For Enhancing Mutant Enzyme Activities In Lysosomal Storage Disorders
US Patent:
2002003, Mar 21, 2002
Filed:
Sep 7, 2001
Appl. No.:
09/948348
Inventors:
Jian-Qiang Fan - New York NY, US
Satoshi Ishii - Oita, JP
Naoki Asano - Ishikawa, JP
Robert Desnick - New York NY, US
Satoshi Ishii - Oita, JP
Naoki Asano - Ishikawa, JP
Robert Desnick - New York NY, US
Assignee:
Mount Sinai School of Medicine of New York University.
International Classification:
A61K031/70, A61K031/435, A61K031/445
US Classification:
514/025000, 514/028000, 514/277000, 514/281000, 514/315000
Abstract:
Method fore 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.
Acid Sphingomyelinase Gene
US Patent:
5773278, Jun 30, 1998
Filed:
May 3, 1991
Appl. No.:
7/695472
Inventors:
Edward H. Schuchman - New York NY
Robert J. Desnick - New York NY
Robert J. Desnick - New York NY
Assignee:
Mount Sinai Medical Center - New York NY
International Classification:
C12N 506, C12N 1585, C07H 2104
US Classification:
435358
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.
Dose Escalation Enzyme Replacement Therapy For Treating Acid Sphingomyelinase Deficiency
US Patent:
8349319, Jan 8, 2013
Filed:
Aug 28, 2010
Appl. No.:
12/870790
Inventors:
Edward H. Schuchman - Haworth NJ, US
Robert J. Desnick - New York NY, US
Gerald F. Cox - Needham MA, US
Laura P. Andrews - Bolton MA, US
James M. Murray - Shrewsbury MA, US
Robert J. Desnick - New York NY, US
Gerald F. Cox - Needham MA, US
Laura P. Andrews - Bolton MA, US
James M. Murray - Shrewsbury MA, US
Assignee:
Mount Sinai School of Medicine - New York NY
Genzyme Corporation - Cambridge MA
Genzyme Corporation - Cambridge MA
International Classification:
A61K 38/46
US Classification:
424 946, 424 9461
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.