Patents by Inventor Stephen J. Tapscott
Stephen J. Tapscott 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).
-
Publication number: 20210198739Abstract: 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: ApplicationFiled: December 7, 2020Publication date: July 1, 2021Applicants: Fred Hutchinson Cancer Research Center, University of Rochester, Leiden University Medical CenterInventors: Silvere M. van der Maarel, Stephen J. Tapscott, Rabi Tawil, Richard J.L.F. Lemmers, Linda Geng, Laura Snider
-
Publication number: 20210038653Abstract: Disclosed herein are methods of treating facioscapulohumeral muscular dystrophy (FSHD). In an example, a method of treatment includes administering to a subject an agent that increases NuRD and/or CAF-1 complex repression of DUX4, thereby reducing or inhibiting one or more signs or symptoms associated with muscular dystrophy. In other examples, the treatment method includes administering an agent that increases the activity and/or expression of NuRD/MBD2 and/or MBD1/CAF-1 complex members, thereby reducing or inhibiting one or more signs or symptoms associated with muscular dystrophy. Also disclosed is a method of treatment of FSHD including administering to a subject an effective amount of an MBD3L protein inhibitor to treat one or more signs or symptoms associated with FSHD.Type: ApplicationFiled: February 1, 2019Publication date: February 11, 2021Inventors: Stephen J. TAPSCOTT, Sean SHADLE, Amy CAMPBELL
-
Patent number: 10865445Abstract: 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 develType: GrantFiled: August 18, 2011Date of Patent: December 15, 2020Assignees: Fred Hutchinson Cancer Research Center, University of Rochester, Leiden University Medical CenterInventors: Silvere M. van der Maarel, Stephen J. Tapscott, Rabi Tawil, Richard J. L. F. Lemmers, Linda Geng, Lauren Snider
-
Publication number: 20200297696Abstract: The present disclosure provides methods of treating a patient comprising administering a p38 inhibitor for the treatment of FSHD. In some embodiments, the present methods comprise using one or more p38 inhibitors as a therapeutic agent for the treatment of FSHD patients including patients who are being treated with one or more palliative treatments such as therapy and/or agents which lead to increased muscle mass.Type: ApplicationFiled: November 16, 2018Publication date: September 24, 2020Applicants: Saint Louis University, Fred Hutchinson Cancer Research CenterInventors: Francis M. SVERDRUP, Stephen J. TAPSCOTT, Jonathan OLIVA, Amy E. CAMPBELL, Marvin J. MEYERS
-
Publication number: 20200087629Abstract: It was found that DUXC family proteins were efficient activators of EGA and that DUXC proteins could be used in methods in the reprogramming of cells to a totipotent state and to increase the efficiency of somatic cell nuclear transfer (SCNT). Accordingly, aspects of the disclosure relate to a method for reprogramming a cell into a totipotent state, the method comprising expressing a DUXC family protein in the cell. Further aspects of the disclosure relate to a method for making a host cell nuclear transfer (SCNT) embryo comprising expressing a DUXC protein in a somatic cell and transferring the nucleus of the somatic cell to an enucleated oocyte, thereby making a SCNT embryo.Type: ApplicationFiled: October 19, 2017Publication date: March 19, 2020Inventors: Stephen J TAPSCOTT, Jennifer L WHIDDON, Peter G HENDRICKSON, Edward J GROW, Bradley R CAIRNS
-
Patent number: 10538763Abstract: The present disclosure pertains generally to double-stranded small interfering RNAs that modulate gene expression for use in research, diagnostics, and/or therapeutics. In certain embodiments, the present disclosure provides double-stranded small interfering RNAs that modulate DUX4 gene expression. In certain embodiments, the present disclosure provides methods of inhibiting DUX4 gene expression by contacting a cell with double-stranded small interfering RNAs.Type: GrantFiled: January 15, 2016Date of Patent: January 21, 2020Assignees: Ionis Pharmaceuticals, Inc., Fred Hutchinson Cancer Research CenterInventors: Frank Rigo, Stephen J. Tapscott
-
Publication number: 20180273942Abstract: The present disclosure pertains generally to double-stranded small interfering RNAs that modulate gene expression for use in research, diagnostics, and/or therapeutics. In certain embodiments, the present disclosure provides double-stranded small interfering RNAs that modulate DUX4 gene expression. In certain embodiments, the present disclosure provides methods of inhibiting DUX4 gene expression by contacting a cell with double-stranded small interfering RNAs.Type: ApplicationFiled: January 15, 2016Publication date: September 27, 2018Applicants: Ionis Pharmaceuticals, Inc., Fred Hutchinson Cancer Research CenterInventors: Frank Rigo, Stephen J. Tapscott
-
Patent number: 9814728Abstract: The use of BETi as a potential treatment for FSHD is provided. Specifically, the use of BETi, and particularly selective BETi for BRD4, are shown to inhibit DUX4 expression which is expected to result in a decrease in the severity of symptoms of FSHD. Further, the treatments are shown to work when pulsed as opposed to continuous. This allows for a BETi to be supplied to a human in a pulse, and then allows the human to not need any additional treatment for a window at least as long as the one of the treatment pulse.Type: GrantFiled: September 19, 2014Date of Patent: November 14, 2017Assignee: Saint Louis UniversityInventors: Francis M. Sverdrup, Stephen J. Tapscott
-
Publication number: 20150166961Abstract: Activating Notch signaling in cultured canine muscle derived cells inhibited myogenic differentiation, and increased the number of myogenic progenitor cells that were similar to quiescent or newly activated satellite cells. Importantly, cells expanded in the presence of Notch activation maintained engraftment potential, indicating the potential for therapeutic benefit. Activation of Notch signaling to inhibit myogenic differentiation in cultured human muscle-derived cells is also contemplated, for maintaining engraftment potential using such human cells in transplantation.Type: ApplicationFiled: June 14, 2013Publication date: June 18, 2015Inventors: Maura H. Parker, Stephen J. Tapscott
-
Publication number: 20140242093Abstract: In one aspect, the present invention relates to methods for increasing, decreasing or maintaining the innate immune response in a mammalian subject comprising modulating the expression of DUX4-fl, or modulating the expression of beta-defensin 3 (DEFB103). In another aspect, the present invention relates to methods for increasing, decreasing or maintaining myogenesis or muscle differentiation in a mammalian subject comprising modulating the expression of beta-defensin 3 (DEFB103). In additional aspects, the present invention involves diagnostic methods based on assessment of identified biomarkers.Type: ApplicationFiled: July 27, 2012Publication date: August 28, 2014Applicant: FRED HUTCHINSON CANCER RESEARCH CENTERInventors: Stephen J. Tapscott, Linda Geng
-
METHODS AND COMPOSITIONS FOR IDENTIFYING INCREASED RISK OF DEVELOPING FRAGILE X-ASSOCIATED DISORDERS
Publication number: 20140141439Abstract: The present invention provides compositions and methods of identifying a subject as having an increased risk of developing fragile X-associated tremor and ataxia syndrome (FXTAS) or identifying a subject having an increased risk of developing fragile X syndrome (FXS), comprising analyzing messenger RNA (mRNA) transcripts and/or translation products of the antisense gene ASFMR1.Type: ApplicationFiled: October 31, 2013Publication date: May 22, 2014Applicant: THE FRED HUTCHINSON CANCER RESEARCH CENTERInventors: STEPHEN J. TAPSCOTT, GALINA N. FILIPPOVA, PAULA D. LADD -
Methods and compositions for identifying increased risk of developing fragile X-associated disorders
Patent number: 8597880Abstract: The present invention provides compositions and methods of identifying a subject as having an increased risk of developing fragile X-associated tremor and ataxia syndrome (FXTAS) or identifying a subject having an increased risk of developing fragile X syndrome (FXS), comprising analyzing messenger RNA (mRNA) transcripts and/or translation products of the antisense gene ASFMR1.Type: GrantFiled: October 2, 2008Date of Patent: December 3, 2013Assignee: The Fred Hutchinson Cancer Research CenterInventors: Stephen J. Tapscott, Galina N. Filippova, Paula D. Ladd -
Publication number: 20130288976Abstract: 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 develType: ApplicationFiled: August 18, 2011Publication date: October 31, 2013Applicants: Fred Hutchinson Cancer Research Center, University of Rochester Medical Center, Leiden University Medical CenterInventors: Silvere M. van der Maarel, Stephen J. Tapscott, Rabi Tawil, Richard J.L.F. Lemmers, Linda Geng, Lauren Snider
-
METHODS AND COMPOSITIONS FOR IDENTIFYING INCREASED RISK OF DEVELOPING FRAGILE X-ASSOCIATED DISORDERS
Publication number: 20100279293Abstract: The present invention provides compositions and methods of identifying a subject as having an increased risk of developing fragile X-associated tremor and ataxia syndrome (FXTAS) or identifying a subject having an increased risk of developing fragile X syndrome (FXS), comprising analyzing messenger RNA (mRNA) transcripts and/or translation products of the antisense gene ASFMR1.Type: ApplicationFiled: October 2, 2008Publication date: November 4, 2010Inventors: Stephen J. Tapscott, Galina N. Filippova, Paula D. Ladd -
Publication number: 20100273151Abstract: The present disclosure provides methods for detecting the genome-wide presence of methylated DNA and palindrome formation. The present disclosure also provides methods for specific enrichment of methylated DNA or DNA having a DNA palindrome. These methods have demonstrated that somatic palindromes and methylated DNA occur frequently and are widespread in human cancers. Individual tumor types have a characteristic non-random distribution of palindromes in their genome and a small subset of the palindromic loci are associate with gene amplification. The disclosed method can be used to define the plurality of genomic DNA palindromes and regions having methylated DNA associated with various tumor types and can provide methods for the classification of tumors, and the diagnosis, early detection of cancer as well as the monitoring of disease recurrence and assessment of residual disease.Type: ApplicationFiled: May 26, 2009Publication date: October 28, 2010Applicant: Fred Hutchinson Cancer Research CenterInventors: Stephen J. Tapscott, Hisashi Tanaka, Meng-Chao Yao, Scott J. Diede
-
Patent number: 6444463Abstract: Provided are methods of classifying and prognosticating human neuroectodermal tumors by analyzing a sample of the tumor to determine whether various bHLH proteins are detectably expressed in the sample. In the methods disclosed herein, expression of the bHLH genes is assessed by measuring transcripts or proteins expressed from the genes.Type: GrantFiled: February 7, 2000Date of Patent: September 3, 2002Assignee: Fred Hutchinson Cancer Research CenterInventor: Stephen J. Tapscott
-
Patent number: 5795723Abstract: Provided are methods of classifying and prognosticating human neuroectodermal tumors by analyzing a sample of the tumor to determine whether various bHLH proteins are detectably expressed in the sample. In the methods disclosed herein, expression of the bHLH genes is assessed by measuring transcripts or proteins expressed from the genes.Type: GrantFiled: August 7, 1997Date of Patent: August 18, 1998Assignee: Fred Hutchinson Cancer Research CenterInventors: Stephen J. Tapscott, James M. Olson
-
Patent number: 5695995Abstract: Neurogenic differentiation genes and proteins are identified, isolated, and sequenced. Expression of neuroD has been demonstrated in neural, pancreatic, and gastrointestinal cells. Ectopic expression of neuroD in non-neuronal cells of Xenopus embryos induced formation of neurons.Type: GrantFiled: November 2, 1995Date of Patent: December 9, 1997Assignee: Fred Hutchinson Cancer Research CenterInventors: Harold M. Weintraub, deceased, Jacqueline E. Lee, Stanley M. Hollenberg, Stephen J. Tapscott
-
Patent number: 5352595Abstract: Isolated DNA or RNA molecules capable of hybridizing under stringent conditions to the myoD regulatory region, its proximal promoter and distal enhancer regulatory regions, and regulatory elements within the proximal and distal regions for binding basic helix-loop-helix proteins, MyoD, and proteins binding at SP1, AP1, CAAT, M-CAT, CArG, and MEF sites in DNA. DNA or RNA expression vectors for introducing a gene into a cell under the regulatory control of the myoD regulatory region. Transduced or transfected pre-muscle cells, myocytes, or myoblasts. Methods of inducing a muscle phenotype in a non-muscle cell, positively selecting for a cells expressing MyoD, and negatively selecting for cells expressing MyoD.Type: GrantFiled: September 3, 1991Date of Patent: October 4, 1994Assignee: Fred Hutchinson Cancer Research CenterInventors: Stephen J. Tapscott, Harold M. Weintraub, Theodore D. Palmer