Patents by Inventor Rabi Tawil

Rabi Tawil 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).

  • METHODS FOR DETERMINING THE PRESENCE OR RISK OF DEVELOPING FACIOSCAPULOHUMERAL DYSTROPHY (FSHD)
    Publication number: 20210198739
    Abstract: In one aspect, the invention provides a method of screening a human subject to determine if said subject has a genetic predisposition to develop, or is suffering from Facioscapulohumeral Dystrophy (FSHD), said method comprising: (a) providing a biological sample comprising genomic DNA from the subject; and (b) analyzing the portion of the genomic DNA in the sample corresponding to the distal D4Z4-pLAM region on chromosome 4 and determining the presence or absence of a polymorphism resulting in a functional polyadenylation sequence operationally linked to exon 3 of the DUX4 gene.
    Type: Application
    Filed: December 7, 2020
    Publication date: July 1, 2021
    Applicants: Fred Hutchinson Cancer Research Center, University of Rochester, Leiden University Medical Center
    Inventors: Silvere M. van der Maarel, Stephen J. Tapscott, Rabi Tawil, Richard J.L.F. Lemmers, Linda Geng, Laura Snider
  • Methods for alleviating facioscapulohumeral dystrophy (FSHD) by N siRNA molecule inhibiting the expression of DUX4-FL
    Patent number: 10865445
    Abstract: In one aspect, the invention provides a method of screening a human subject to determine if said subject has a genetic predisposition to develop, or is suffering from Facioscapulohumeral Dystrophy (FSHD), said method comprising: (a) providing a biological sample comprising genomic DNA from the subject; and (b) analyzing the portion of the genomic DNA in the sample corresponding to the distal D4Z4-pLAM region on chromosome 4 and determining the presence or absence of a polymorphism resulting in a functional polyadenylation sequence operationally linked to exon 3 of the DUX4 gene, wherein a determination of the absence of a functional polyadenylation sequence operationally linked to exon 3 of the DUX4 gene indicates that the subject does not have a genetic predisposition to develop, and is not suffering from FSHD, and/or wherein a determination of the presence of a functional polyadenylation sequence operationally linked to exon 3 of the DUX4 gene indicates that the subject has a genetic predisposition to devel
    Type: Grant
    Filed: August 18, 2011
    Date of Patent: December 15, 2020
    Assignees: Fred Hutchinson Cancer Research Center, University of Rochester, Leiden University Medical Center
    Inventors: Silvere M. van der Maarel, Stephen J. Tapscott, Rabi Tawil, Richard J. L. F. Lemmers, Linda Geng, Lauren Snider
  • METHODS AND COMPOSITIONS RELATED TO THE SMCHD1 GENE
    Publication number: 20150159216
    Abstract: The present invention relates generally to the field of molecular biology and genetics. More particularly, it concerns methods and compositions for detecting, diagnosing, and/or treating facioscapulohumeral dystrophy (FSHD2).
    Type: Application
    Filed: June 18, 2013
    Publication date: June 11, 2015
    Inventors: Stephen Tapscott, Daniel G. Miller, Silvere M. van der Maarel, Rabi Tawil
  • Methods for Determining the Presence or Risk of Developing Facioscapulohumeral Dystrophy (FSHD)
    Publication number: 20130288976
    Abstract: In one aspect, the invention provides a method of screening a human subject to determine if said subject has a genetic predisposition to develop, or is suffering from Facioscapulohumeral Dystrophy (FSHD), said method comprising: (a) providing a biological sample comprising genomic DNA from the subject; and (b) analyzing the portion of the genomic DNA in the sample corresponding to the distal D4Z4-pLAM region on chromosome 4 and determining the presence or absence of a polymorphism resulting in a functional polyadenylation sequence operationally linked to exon 3 of the DUX4 gene, wherein a determination of the absence of a functional polyadenylation sequence operationally linked to exon 3 of the DUX4 gene indicates that the subject does not have a genetic predisposition to develop, and is not suffering from FSHD, and/or wherein a determination of the presence of a functional polyadenylation sequence operationally linked to exon 3 of the DUX4 gene indicates that the subject has a genetic predisposition to devel
    Type: Application
    Filed: August 18, 2011
    Publication date: October 31, 2013
    Applicants: Fred Hutchinson Cancer Research Center, University of Rochester Medical Center, Leiden University Medical Center
    Inventors: Silvere M. van der Maarel, Stephen J. Tapscott, Rabi Tawil, Richard J.L.F. Lemmers, Linda Geng, Lauren Snider