Patents by Inventor Lisa Edelmann

Lisa Edelmann 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).

  • Materials and methods for identifying spinal muscular atrophy carriers
    Patent number: 11279977
    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: Grant
    Filed: May 21, 2018
    Date of Patent: March 22, 2022
    Assignee: Icahn School of Medicine at Mount Sinai
    Inventors: Lisa Edelmann, Robert J. Desnick
  • MATERIALS AND METHODS FOR IDENTIFYING SPINAL MUSCULAR ATROPHY CARRIERS
    Publication number: 20180340227
    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: May 21, 2018
    Publication date: November 29, 2018
    Inventors: Lisa Edelmann, Robert J. Desnick
  • Materials and methods for identifying spinal muscular atrophy carriers
    Patent number: 9994898
    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: Grant
    Filed: June 7, 2012
    Date of Patent: June 12, 2018
    Assignee: Icahn School of Medicine at Mount Sinai
    Inventors: Lisa Edelmann, Robert J. Desnick
  • 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