Charles A. Thornton, M.D.

Charles A. Thornton, M.D.

Contact Information

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

Office: (585) 275-2542
Fax: (585) 276-1947
Administrative: (585) 275-2542
Lab: (585) 275-7108

Research Bio

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.

Awards & Honors (National)

Hans Steinert Award for Myotonic Dystrophy Research 2011
Norman Saunders Jacob's Ladder International Research Prize 2010

Awards & Honors (Local)

Carrell-Krusen Award | University of Texas Southwestern, Dallas, TX 2013
Paul B Beeson Physician Faculty Scholar Award | American Federation of Aging Research 1997 - 2000
Awardee, Clinical Investigator Development | NIH/NINDS 1992 - 1997
Awardee, Experimental Therapeutics Fellowship | NRSA 1991 - 1992
Awardee, Research Fellowship | Muscular Dystrophy Association 1989 - 1991
Fulbright Senior Lecturing Award 1987 - 1989
Merck Award for Medical Student Achievement 1981
Borts Student Research Award 1980


Muscleblind Gene Therapy for RNA-Mediated Disease

United States Serial NO.: 10/591,883
Filed Date: March 10, 2005
Title: Methods and Compositions for Treatment of Myotonia
Invented by: Charles Thornton, Maurice Swanson, Rahul Kanadia
Physician Checklists for FSHD (Facioscapulohumeral Muscular Dystrophy) and DM (Myotonic Dystrophy)

United States Serial NO.: 1-686888271
Filed Date: November 16, 2011
Title: Physician Checklists for FSHD (Facioscapulohumeral Muscular Dystrophy) and DM (Myotonic Dystrophy)
Invented by: Richard Moxley, III, Al-Rabi Tawil, Charles Thornton, Michael McDermott
Patient Information Forms for FSHD (Facioscapulohumeral Muscular Dystrophy), DM (Myotonic Dystrophy), and Unaffected Blood Relatives of Individuals with FSHD or DM

United States Serial NO.: 1-686948337
Filed Date: November 16, 2011
Title: Patient Information Forms for FSHD (Facioscapulohumeral Muscular Dystrophy), DM (Myotonic Dystrophy), and Unaffected Blood Relatives of Individuals with FSH
Invented by: Richard Moxley, III, Al-Rabi Tawil, Charles Thornton, Michael McDermott

Recent Journal Articles

Showing the 5 most recent journal articles. 126 available »

2015 Sep 1
Pandey SK, Wheeler TM, Justice SL, Kim A, Younis H, Gattis D, Jauvin D, Puymirat J, Swayze EE, Freier SM, Bennett CF, Thornton CA, MacLeod AR. "Identification and Characterization of Modified Antisense Oligonucleotides Targeting DMPK in Mice and Nonhuman Primates for the Treatment of Myotonic Dystrophy Type 1." The Journal of pharmacology and experimental therapeutics. 2015 Sep 1; Epub 2015 Sep 01.
2015 Jun 4
Heatwole C, Bode R, Nicholas Johnson , Dekdebrun J, Dilek N, Eichinger K, Hilbert JE, Logigian E, Luebbe E, Martens W, McDermott MP, Pandya S, Puwanant A, Rothrock N, Thornton C, Vickrey BG, Victorson D, Moxley RT. "The myotonic dystrophy health index: Correlations with clinical tests and patient function." Muscle & nerve. 2015 Jun 4; Epub 2015 Jun 04.
2015 Apr 1
Yadava RS, Foff EP, Yu Q, Gladman JT, Kim YK, Bhatt KS, Thornton CA, Zheng TS, Mahadevan MS. "TWEAK/Fn14, a pathway and novel therapeutic target in myotonic dystrophy." Human molecular genetics. 2015 Apr 1; 24(7):2035-48. Epub 2014 Dec 11.
2015 Mar 31
Wojtkowiak-Szlachcic A, Taylor K, Stepniak-Konieczna E, Sznajder LJ, Mykowska A, Sroka J, Thornton CA, Sobczak K. "Short antisense-locked nucleic acids (all-LNAs) correct alternative splicing abnormalities in myotonic dystrophy." Nucleic acids research. 2015 Mar 31; 43(6):3318-31. Epub 2015 Mar 09.
2014 Oct 23
Batra R, Charizanis K, Manchanda M, Mohan A, Li M, Finn DJ, Goodwin M, Zhang C, Sobczak K, Thornton CA, Swanson MS. "Loss of MBNL leads to disruption of developmentally regulated alternative polyadenylation in RNA-mediated disease." Molecular cell. 2014 Oct 23; 56(2):311-22. Epub 2014 Sep 25.

Current Appointments

Saunders Family Distinguished Professor in Neuromuscular Research - Department of Neurology (SMD)
Professor - Department of Neurology, NMD (SMD) - Primary


Neurology - American Board of Psychiatry and Neurology


MD | Medicine | University Iowa Coll Medicine1981
BS | Arts & Sciences | University of Iowa1977

Post-Doctoral Training & Residency

Fellowship in Experimental Therapeutics at University of Rochester School of Medicine & Dentistry09/01/1990 - 06/30/1992
Fellowship in Neuromuscular Disease at University of Rochester School of Medicine & Dentistry09/01/1989 - 06/30/1990
Residency in Neurology at Oregon Health Sciences University School of Med09/01/1982 - 06/30/1985
Internship in Internal Medicine at UCLA School of Medicine09/01/1981 - 06/30/1982