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Charles A. Thornton, M.D.

Contact Information

Phone Numbers

Appointment: (585) 275-2559

Administrative: (585) 275-2542

Office: (585) 275-2542

Fax: (585) 276-1947

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groupAn Accountable Health Partner

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Research Labs

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Locations

University of Rochester Medical Center
School of Medicine and Dentistry
601 Elmwood Ave, Box 645
Rochester, NY 14642

Faculty Appointments

Patient Care Setting

Neurology

Biography

Professional Background

Neurogenetic disorders, including myotonic dystrophy; therapeutics, including antisense approaches. Myotonia is a state of hyperexcitability in muscle fibers in which a voluntary contraction or electromechanical stimulation can provoke trains of repetitive action potentials. This causes delay in relaxation after a muscle contraction. The repetitive action potentials are generated by the muscle fibers, independent of any input from the motor neuron. Myotonia is caused by dysfunction of ion channels in the muscle membrane.

Myotonic dystrophy is the most common disease that causes myotonia. Recent studies in our laboratory indicate that the myotonia in myotonic dystrophy is caused, at least in part, by reduced expression of the ClC-1 chloride channel (Mankodi, et al, Molecular Cell, July 2002).

Several strains of mice with myotonia have been isolated. All spontaneous mutations that cause myotonia in mice are allelic. These strains are called "adr", for arrested development of righting response (i.e., the mice are slow to regain their upright posture after being tipped on their side). Adr strains have mutations in the murine Clcn1 gene, similar to the mutations that cause human generalized myotonia congenita.

Research

Neurogenetic disorders, including myotonic dystrophy; therapeutics, including antisense approaches. Myotonia is a state of hyperexcitability in muscle fibers in which a voluntary contraction or electromechanical stimulation can provoke trains of repetitive action potentials. This causes delay in relaxation after a muscle contraction. The repetitive action potentials are generated by the muscle fibers, independent of any input from the motor neuron. Myotonia is caused by dysfunction of ion channels in the muscle membrane.

Myotonic dystrophy is the most common disease that causes myotonia. Recent studies in our laboratory indicate that the myotonia in myotonic dystrophy is caused, at least in part, by reduced expression of the ClC-1 chloride channel (Mankodi, et al, Molecular Cell, July 2002).

Several strains of mice with myotonia have been isolated. All spontaneous mutations that cause myotonia in mice are allelic. These strains are called "adr", for arrested development of righting response (i.e., the mice are slow to regain their upright posture after being tipped on their side). Adr strains have mutations in the murine Clcn1 gene, similar to the mutations that cause human generalized myotonia congenita.

Credentials

Education

1981
MD | University of Iowa College of Medicine

Post-doctoral Training & Residency

09/01/1990 - 06/30/1992
Fellowship in Experimental Therapeutics at University of Rochester School of Medicine & Dentistry

09/01/1989 - 06/30/1990
Fellowship in Neuromuscular Disease at University of Rochester School of Medicine & Dentistry

09/01/1982 - 06/30/1985
Residency in Neurology at Oregon Health Sciences University School of Med

09/01/1981 - 06/30/1982
Internship in Internal Medicine at UCLA School of Medicine

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Awards

2013
Carrell-Krusen Award
Sponsor: University of Texas Southwestern, Dallas, TX

2011
Hans Steinert Award for Myotonic Dystrophy Research

2010
Norman Saunders Jacob's Ladder International Research Prize

1997 - 2000
Paul B Beeson Physician Faculty Scholar Award
Sponsor: American Federation of Aging Research

1992 - 1997
Awardee, Clinical Investigator Development
Sponsor: NIH/NINDS

1991 - 1992
Awardee, Experimental Therapeutics Fellowship
Sponsor: NRSA

1989 - 1991
Awardee, Research Fellowship
Sponsor: Muscular Dystrophy Association

1987 - 1989
Fulbright Senior Lecturing Award

1981
Merck Award for Medical Student Achievement

1980
Borts Student Research Award

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Patents

Patent Title: Patient Information Forms for FSHD (Facioscapulohumeral Muscular Dystrophy), DM (Myotonic Dystrophy), and Unaffected Blood Relatives of Individuals with FSH
Patent #: TXu 1-790-681
Issue Date: Nov 16, 2011
Country: United States
Invented By: Michael McDermott, Richard T Moxley, III, Al-Rabi N Tawil, Charles A Thornton

Patent Title: Nucleic Acid Binding Compounds and Methods of Use
Patent #: 9,212,205
Issue Date: Dec 15, 2015
Country: United States
Invented By: Peter Gareiss, Brian R McNaughton, Benjamin L Miller, Krzysztof Sobczak, Charles A Thornton, Joseph E Wedekind

Patent Title: Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression
Patent #: 3031920
Issue Date: Aug 21, 2019
Country: Europe
Invented By: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Patent Title: Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression
Patent #: AT3031920
Issue Date: Aug 21, 2019
Country: Austria
Invented By: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Patent Title: Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression
Patent #: BE3031920
Issue Date: Aug 21, 2019
Country: Belgium
Invented By: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Patent Title: Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression
Patent #: DK3031920
Issue Date: Aug 21, 2019
Country: Denmark
Invented By: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Patent Title: Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression
Patent #: FI3031920
Issue Date: Aug 21, 2019
Country: Finland
Invented By: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Patent Title: Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression
Patent #: FR3031920
Issue Date: Aug 21, 2019
Country: France
Invented By: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Patent Title: Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression
Patent #: DE3031920
Issue Date: Aug 21, 2019
Country: Germany
Invented By: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Patent Title: Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression
Patent #: IE3031920
Issue Date: Aug 21, 2019
Country: Ireland
Invented By: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Patent Title: Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression
Patent #: IT3031920
Issue Date: Aug 21, 2019
Country: Italy
Invented By: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Patent Title: Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression
Patent #: NL3031920
Issue Date: Aug 21, 2019
Country: Netherlands
Invented By: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Patent Title: Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression
Patent #: NO3031920
Issue Date: Aug 21, 2019
Country: Norway
Invented By: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Patent Title: Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression
Patent #: ES3031920
Issue Date: Aug 21, 2019
Country: Spain
Invented By: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Patent Title: Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression
Patent #: SE3031920
Issue Date: Aug 21, 2019
Country: Sweden
Invented By: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Patent Title: Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression
Patent #: CH3031920
Issue Date: Aug 21, 2019
Country: Switzerland/Liechtenstein
Invented By: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Patent Title: Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression
Patent #: GB3031920
Issue Date: Aug 21, 2019
Country: United Kingdom
Invented By: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Patent Title: Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression
Patent #: PL3031920
Issue Date: Aug 21, 2019
Country: Poland
Invented By: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Patent Title: Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression
Patent #: HR3031920
Issue Date: Aug 21, 2019
Country: Croatia
Invented By: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Patent Title: Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression
Patent #: 10-1900770
Issue Date: Sep 14, 2018
Country: Korea, Republic of
Invented By: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Patent Title: Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression
Patent #: 223962
Issue Date: Jun 30, 2018
Country: Israel
Invented By: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Patent Title: Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression
Patent #: 6343308
Issue Date: May 25, 2018
Country: Japan
Invented By: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Patent Title: Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression
Patent #: 9,765,338
Issue Date: Sep 19, 2017
Country: United States
Invented By: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Patent Title: Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression
Patent #: 5981428
Issue Date: Aug 05, 2016
Country: Japan
Invented By: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Patent Title: Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression
Patent #: ZL201180035573.2
Issue Date: Aug 03, 2016
Country: China, People's Republic of
Invented By: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Patent Title: Modulation of Dystrophia Myotonica-Protein Kinase (DMPK) Expression
Patent #: 2011282217
Issue Date: Mar 17, 2016
Country: Australia
Invented By: C.Frank Bennett, Seng H Cheng, Susan M Freier, Andrew Leger, Robert A Macleod, Sanjay K Pandey, Charles A Thornton, Bruce M Wentworth, Thurman M Wheeler

Patent Title: Methods and Compositions for Treatment of Myotonia
Patent #: 7,964,570
Issue Date: Jun 21, 2011
Country: United States
Invented By: Rahul N Kanadia, Maurice S Swanson, Charles A Thornton

Patent Title: Compositions and Methods Related to Protein Displacement Therapy for Myotonic Dystrophy
Patent #: 6259000
Issue Date: Dec 15, 2017
Country: Japan
Invented By: Jill W Miller, Robert J Osborne, Krzysztof Sobczak, Maurice S Swanson, Charles A Thornton, Thurman M Wheeler

Patent Title: Compositions and Methods Related to Protein Displacement Therapy for Myotonic Dystrophy
Patent #: 2,664,189
Issue Date: Nov 21, 2017
Country: Canada
Invented By: Jill W Miller, Robert J Osborne, Krzysztof Sobczak, Maurice S Swanson, Charles A Thornton, Thurman M Wheeler

Patent Title: Compositions and Methods Related to Protein Displacement Therapy for Myotonic Dystrophy
Patent #: HK1182447
Issue Date: Jun 30, 2017
Country: Hong Kong
Invented By: Jill W Miller, Robert J Osborne, Krzysztof Sobczak, Maurice S Swanson, Charles A Thornton, Thurman M Wheeler

Patent Title: Compositions and Methods Related to Protein Displacement Therapy for Myotonic Dystrophy
Patent #: 9,371,527
Issue Date: Jun 21, 2016
Country: United States
Invented By: Jill W Miller, Robert J Osborne, Krzysztof Sobczak, Maurice S Swanson, Charles A Thornton, Thurman M Wheeler

Patent Title: Compositions and Methods Related to Protein Displacement Therapy for Myotonic Dystrophy
Patent #: 5926475
Issue Date: Apr 28, 2016
Country: Japan
Invented By: Jill W Miller, Robert J Osborne, Krzysztof Sobczak, Maurice S Swanson, Charles A Thornton, Thurman M Wheeler

Patent Title: Compositions and Methods Related to Protein Displacement Therapy for Myotonic Distrophy
Patent #: 2014216025
Issue Date: Mar 23, 2017
Country: Australia
Invented By: Jill W Miller, Robert J Osborne, Krzysztof Sobczak, Maurice S Swanson, Charles A Thornton, Thurman M Wheeler

Patent Title: Compositions and Methods Related to Protein Displacement Therapy for Myotonic Distrophy
Patent #: 2560001
Issue Date: Apr 13, 2016
Country: Europe
Invented By: Jill W Miller, Robert J Osborne, Krzysztof Sobczak, Maurice S Swanson, Charles A Thornton, Thurman M Wheeler

Patent Title: Compositions and Methods Related to Protein Displacement Therapy for Myotonic Distrophy
Patent #: GB2560001
Issue Date: Apr 13, 2016
Country: United Kingdom
Invented By: Jill W Miller, Robert J Osborne, Krzysztof Sobczak, Maurice S Swanson, Charles A Thornton, Thurman M Wheeler

Patent Title: Compositions and Methods Related to Protein Displacement Therapy for Myotonic Distrophy
Patent #: 2007297535
Issue Date: Sep 04, 2014
Country: Australia
Invented By: Jill W Miller, Robert J Osborne, Krzysztof Sobczak, Maurice S Swanson, Charles A Thornton, Thurman M Wheeler

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Publications

Journal Articles

12/17/2018
"Transcriptome alterations in myotonic dystrophy skeletal muscle and heart." Human molecular genetics.. 2018 Dec 17; Epub 2018 Dec 17.

4/24/2018
Hilbert JE, Thornton CA, Moxley RT. "Author response: High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2." Neurology.. 2018 Apr 24; 90(17):814.

4/17/2018
Sznajder ?J, Thomas JD, Carrell EM, Reid T, McFarland KN, Cleary JD, Oliveira R, Nutter CA, Bhatt K, Sobczak K, Ashizawa T, Thornton CA, Ranum LPW, Swanson MS. "Intron retention induced by microsatellite expansions as a disease biomarker." Proceedings of the National Academy of Sciences of the United States of America.. 2018 Apr 17; 115(16):4234-4239. Epub 2018 Apr 02.

Books & Chapters

2011
Chapter Title: Myotonic Dystrophy
Book Title: Muscle: Fundamental Biology and Mechanisms and Disease
Author List: Thornton, CA
Edited By: Hill JA, Stull JT, Sweeney HL, Olson, EN
Published By: Elsevier 2011

2009
Chapter Title: Myotonic Dystrophy
Book Title: Disorders of Voluntary Muscle
Author List: Day J, Thornton C
Edited By: Karpati G, Hilton-Jones D, Bushbby K, Griggs RC
Published By: Cambridge University Press 2009 in Cambridge UK

2006
Chapter Title: The RNA-Mediated Disease Process in Myotonic Dystrophy
Book Title: Genetic Instabilities and Neurological Diseases
Author List: Thornton CA, Swanson MS, Cooper TA
Edited By: Wells R, Ashizawa T
Published By: Elsevier 2006 in San Diego, CA

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