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Robert T. Dirksen, Ph.D.

Contact Information

Phone Numbers

Office: (585) 275-4824

Fax: (585) 273-2652

Research Labs

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Locations

University of Rochester Medical Center
School of Medicine and Dentistry
601 Elmwood Ave, Box 711
Rochester, NY 14642

Faculty Appointments

Biography

Research

Dr. Dirksen directs a multi-disciplinary research program focused on elucidating disease mechanisms and advancing treatment for muscular dystrophy and heart disease. The laboratory investigates the pathophysiological mechanisms by which defects in the proper control of intracellular calcium signaling lead to muscle dysfunction and disease. Current projects involve elucidating the cellular mechanisms by which muscle function is controlled by proteins involved in coordinating: 1) excitation-contraction coupling, 2) store-operated calcium entry, and 3) mitochondrial calcium uptake and energy production, as well as 4) the molecular mechanisms for skeletal and cardiac muscle dysfunction in myotonic dystrophy.

Credentials

Education

1985
BS | University of Notre Dame
Biology

1988
MS | University of Rochester
Pharmacology

1991
PhD | University of Rochester
Pharmacology

Post-doctoral Training & Residency

1991 - 1996
Postdoctoral Fellow, Colorado State University, Fort Collins, CO (Mentor: Kurt G. Beam, Ph. D.)

Awards

2015
Chair
Sponsor: Muscle: Excitation-Contraction Coupling Gordon Conference

2012
Vice-Chair
Sponsor: Muscle: Excitation-Contraction Coupling Gordon Conference

2002
Graduate Student Society Faculty Mentoring Award

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Publications

Journal Articles

4/19/2021
Baker ML, Dirksen RT, Hamilton SL. "How mutations in RYR1 that cause malignant hyperthermia increase RYR1 sensitivity to activators." Cell calcium.. 2021 Apr 19; 97:102412. Epub 2021 Apr 19.

3/25/2021
Johnston JJ, Dirksen RT, Girard T, Gonsalves SG, Hopkins PM, Riazi S, Saddic LA, Sambuughin N, Saxena R, Stowell K, Weber J, Rosenberg H, Biesecker LG. "Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility." Genetics in medicine : official journal of the American College of Medical Genetics.. 2021 Mar 25; Epub 2021 Mar 25.

11/16/2020
Lawal TA, Todd JJ, Witherspoon JW, Bönnemann CG, Dowling JJ, Hamilton SL, Meilleur KG, Dirksen RT. "Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature." Skeletal muscle. 2020 Nov 16; 10(1):32. Epub 2020 Nov 16.

Books & Chapters

2006
Chapter Title: Malignant hyperthermia Susceptibility is: GeneReviews at GeneTests.
Book Title: Medical Genetics Information Resource [database online]
Author List: Rosenberg, H; and Dirksen, RT
Published By: University of Washington 2006 in Seattle

2005
Chapter Title: Pathophysiology of muscle disorders linked to mutations in the skeletal muscle ryanodine receptor.
Book Title: Ryanodine Receptors: Structure, Function and Dysfunction in Clinical Disease
Author List: Dirksen RT and Avila G
Edited By: XH Wehrens and AR Marks
Published By: Springer 2005

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