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

Professional 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.

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

Patents

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. 146 available »

2016 Aug 13
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 Aug 13; Epub 2016 Aug 13.
2016 Feb
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. "Myotonic dystrophy health index: Correlations with clinical tests and patient function." Muscle & nerve. 2016 Feb; 53(2):183-90. Epub 2015 Dec 29.
2016 Feb
Burns TM, Smith GA, Allen JA, Amato AA, Arnold WD, Barohn R, Benatar M, Bird SJ, Bromberg M, Chahin N, Ciafaloni E, Cohen JA, Corse A, Crum BA, David WS, Dimberg E, De Sousa EA, Donofrio PD, Dyck PJ, Engel AG, Ensrud ER, Ferrante M, Freimer M, Gable KL, Gibson S, Gilchrist JM, Goldstein JM, Gooch CL, Goodman BP, Gorelov D, Gospe SM, Goyal NA, Guidon AC, Guptill JT, Gutmann L, Gutmann L, Gwathmey K, Harati Y, Harper CM, Hehir MK, Hobson-Webb LD, Howard JF, Jackson CE, Johnson N, Jones SM, Juel VC, Kaminski HJ, Karam C, Kennelly KD, Khella S, Khoury J, Kincaid JC, Kissel JT, Kolb N, Lacomis D, Ladha S, Larriviere D, Lewis RA, Li Y, Litchy WJ, Logigian E, Lou JS, MacGowen DJ, Maselli R, Massey JM, Mauermann ML, Mathews KD, Meriggioli MN, Miller RG, Moon JS, Mozaffar T, Nations SP, Nowak RJ, Ostrow LW, Pascuzzi RM, Peltier A, Ruzhansky K, Richman DP, Ross MA, Rubin DI, Russell JA, Sachs GM, Salajegheh MK, Saperstein DS, Scelsa S, Selcen D, Shaibani A, Sheih PB, Silvestri NJ, Singleton JR, Smith BE, So YT, Solorzano G, Sorenson EJ, Srinivasen J, Tavee J, Tawil R, Thaisetthawatkul P, Thornton C, Trivedi J, Vernino S, Wang AK, Webb TA, Weiss MD, Windebank AJ, Wolfe GI. "Editorial by concerned physicians: Unintended effect of the orphan drug act on the potential cost of 3,4-diaminopyridine." Muscle & nerve. 2016 Feb; 53(2):165-8. Epub 2015 Dec 21.
2015 Nov
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 Nov; 355(2):329-40. Epub 2015 Sep 01.
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.

Current Appointments

Saunders Family Distinguished Professor in Neuromuscular Research - Department of Neurology (SMD)
Professor - Department of Neurology, NMD (SMD) - Primary
Professor - Center for Neural Development & Disease
Professor - Department of Neuroscience (SMD)

Specialties

Neurology - American Board of Psychiatry and Neurology

Education

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