Patents by Inventor Silvère M. van der Maarel

Silvère M. van der Maarel 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 for treating muscle specific receptor kinase (MuSK) myasthenia gravis with the Ig1 domain of MuSK
    Patent number: 9574015
    Abstract: Agents, compositions, and medicaments that reduce interactions between muscle specific kinase receptor (MuSK) and pathogenic immunoglobulin G4 (IgG4) antibodies specific for the first Ig-like domain of MuSK and methods and uses thereof to reduce such interactions are encompassed herein. Also encompassed are screening assays to identify inhibitors of these pathogenic antibodies, particularly those that reduce binding to MuSK. Agents identified using the screening assays described herein are envisioned for use as therapeutics, alone or in compositions or in medicaments, to improve motor function in subjects afflicted MuSK-MG.
    Type: Grant
    Filed: September 15, 2014
    Date of Patent: February 21, 2017
    Assignees: New York University, Leiden University Medical Center
    Inventors: Steven J. Burden, Wei Zhang, Maartje Huijbers, Johannes J. Verschuuren, Silvère M. van der Maarel
  • 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 TREATING MUSCLE SPECIFIC RECEPTOR KINASE MYASTHENIA GRAVIS
    Publication number: 20150125442
    Abstract: Agents, compositions, and medicaments that reduce interactions between muscle specific kinase receptor (MuSK) and pathogenic immunoglobulin G4 (IgG4) antibodies specific for the first Ig-like domain of MuSK and methods and uses thereof to reduce such interactions are encompassed herein. Also encompassed are screening assays to identify inhibitors of these pathogenic antibodies, particularly those that reduce binding to MuSK. Agents identified using the screening assays described herein are envisioned for use as therapeutics, alone or in compositions or in medicaments, to improve motor function in subjects afflicted MuSK-MG.
    Type: Application
    Filed: September 15, 2014
    Publication date: May 7, 2015
    Inventors: Steven J. Burden, Wei Zhang, Maartje Huijbers, Johannes J. Verschuuren, Silvère M. van der Maarel
  • 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