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Charles A. Thornton, M.D.

Neurology

Clinical Interests

Neuromuscular Disease

Contact Information

Phone Numbers

Appointment: (585) 275-2559

Administrative: (585) 275-2542

Office: (585) 275-2542

Fax: (585) 276-1947

URMFGA member of the University of Rochester Medical Faculty Group

groupAn Accountable Health Partner

assignmentAccepting New Patients

Research Labs

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

Faculty Appointments

Specialties

  • Neurology - American Board of Psychiatry and Neurology

Education

1977
BS | University of Iowa
Arts & Sciences

1981
MD | University Iowa Coll Medicine
Medicine

Post-doctoral Training & Residency

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

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

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

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

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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

Title: Physician Checklists for FSHD (Facioscapulohumeral Muscular Dystrophy) and DM (Myotonic Dystrophy)
U.S. Serial #: 1-686888271
Filed: Nov 16, 2011
Invented By: MichaelMcDermott, RichardMoxley, III, Al-RabiTawil, CharlesThornton

Title: Patient Information Forms for FSHD (Facioscapulohumeral Muscular Dystrophy), DM (Myotonic Dystrophy), and Unaffected Blood Relatives of Individuals with FSH
U.S. Serial #: 1-686948337
Filed: Nov 16, 2011
Invented By: MichaelMcDermott, RichardMoxley, III, Al-RabiTawil, CharlesThornton

Title: Methods and Compositions for Treatment of Myotonia
U.S. Serial #: 10/591,883
Filed: Mar 10, 2005
Invented By: RahulKanadia, MauriceSwanson, CharlesThornton

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Publications

Journal Articles

4/1/2017
Thornton CA, Wang E, Carrell EM. "Myotonic dystrophy: approach to therapy." Current opinion in genetics & development.. 2017 Apr 1; 44:135-140. Epub 2017 Apr 01.

10/1/2016
Carrell ST, Carrell EM, Auerbach D, Pandey SK, Bennett CF, Dirksen RT, Thornton CA. "Dmpk gene deletion or antisense knockdown does not compromise cardiac or skeletal muscle function in mice." Human molecular genetics.. 2016 Oct 1; 25(19):4328-4338. Epub 2016 Aug 13.

9/2016
Wagner SD, Struck AJ, Gupta R, Farnsworth DR, Mahady AE, Eichinger K, Thornton CA, Wang ET, Berglund JA. "Dose-Dependent Regulation of Alternative Splicing by MBNL Proteins Reveals Biomarkers for Myotonic Dystrophy." PLoS genetics.. 2016 Sep 0; 12(9):e1006316. Epub 2016 Sep 28.

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: Elsevier2011

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 Press2009 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: Elsevier2006 in San Diego, CA

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Videos

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3,000 Researchers: Muscular Dystrophy