Rabi N. Tawil, M.D.

Rabi N. Tawil, M.D.

Contact Information

University of Rochester Medical Center
School of Medicine and Dentistry
601 Elmwood Ave, Box 673
Rochester, NY 14642

Office: (585) 275-2559
Fax: (585) 273-1255

Professional Bio

Dr. Tawil is co-Director of the MDA Neuromuscular Disease Clinic at the University of Rochester. He is also Director of the Neuromuscular Pathology Laboratory and is responsible for the interpretation of all muscle biopsy samples use for diagnosing muscle diseases. His clinical interests include all acquired and inherited muscle diseases, myasthenia gravis and amyotrophic lateral sclerosis. He has special expertise in facioscapulohumeral muscular dystrophy (FSHD), the non-dystrophic myotonias and the periodic paralyses.

Research Bio

Dr. Tawil's current research interest in focused on FSHD and he is leading an international collaborative effort to understand the underlying molecular mechanisms in FSHD and work towards treatments to slow progression and improve strength in FSHD. Dr. Tawil also participated in a number of research studies that helped identify the genetic cause for the different forms of periodic paralysis. More broadly, Dr. Tawil is interested in bringing new treatments to neuromuscular disorders and has participated and helped organize numerous neuromuscular treatment trials.

Awards & Honors (Local)

Buswell Fellowship Award | University of Rochester 1994 - 1995
Muscular Dystrophy Association Fellowship 1991 - 1993

Patents

Data Forms for: Cellular and Molecular Pathophysiology (CAMP) of Facioscapulohumeral Muscular Dystrophy (FSHD) Study

United States Serial NO.: 1-299598931
Filed Date: December 18, 2009
Title: Data Forms for: Cellular and Molecular Pathophysiology (CAMP) of Facioscapulohumeral Muscular Dystrophy (FSHD) Study
Invented by: Al-Rabi Tawil
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
Methods For Determining The Presence Or Risk Of Developing Facioscapulohumeral Dystrophy (FSHD)

United States Serial NO.: 13/817,531
Filed Date: August 18, 2011
Title: Methods For Determining The Presence Or Risk Of Developing Facioscapulohumeral Dystrophy (FSHD)
Invented by: Al-Rabi Tawil, Stephen Tapscott, Linda Geng, Silvere van der Maarel
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
Methods and Compositions Related to the SMCHD1 Gene

United States Serial NO.: 14/409,192
Filed Date: June 18, 2013
Title: Methods and Compositions Related to the SMCHD1 Gene
Invented by: Al-Rabi Tawil, Stephen Tapscott, Daniel Miller, Silvere van der Maarel

Recent Journal Articles

Showing the 5 most recent journal articles. 145 available »

2016 Jul
Tawil R, Mah JK, Baker S, Wagner KR, Ryan MM, . "Clinical practice considerations in facioscapulohumeral muscular dystrophy Sydney, Australia, 21 September 2015." Neuromuscular disorders : NMD. 2016 Jul; 26(7):462-71. Epub 2016 Apr 25.
2016 Jul
Petek LM, Rickard AM, Budech C, Poliachik SL, Shaw D, Ferguson MR, Tawil R, Friedman SD, Miller DG. "A cross sectional study of two independent cohorts identifies serum biomarkers for facioscapulohumeral muscular dystrophy (FSHD)." Neuromuscular disorders : NMD. 2016 Jul; 26(7):405-13. Epub 2016 Apr 22.
2016 Jul
Wang LH, Tawil R. "Facioscapulohumeral Dystrophy." Current neurology and neuroscience reports. 2016 Jul; 16(7):66.
2016 May 5
van den Boogaard ML, Lemmers RJ, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, van der Vliet PJ, Straasheijm KR, van den Akker RF, Kriek M, Laurense-Bik ME, Raz V, van Ostaijen-Ten Dam MM, Hansson KB, van der Kooi EL, Kiuru-Enari S, Udd B, van Tol MJ, Nishino I, Tawil R, Tapscott SJ, van Engelen BG, van der Maarel SM. "Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy." American journal of human genetics. 2016 May 5; 98(5):1020-9.
2016 Apr 12
Sansone VA, Burge J, McDermott MP, Smith PC, Herr B, Tawil R, Pandya S, Kissel J, Ciafaloni E, Shieh P, Ralph JW, Amato A, Cannon SC, Trivedi J, Barohn R, Crum B, Mitsumoto H, Pestronk A, Meola G, Conwit R, Hanna MG, Griggs RC, . "Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis." Neurology. 2016 Apr 12; 86(15):1408-16. Epub 2016 Feb 10.

Current Appointments

Fields Endowed Professorship in Neurology - Department of Neurology, NMD (SMD)
Professor - Department of Neurology, NMD (SMD) - Primary
Professor - Department of Pathology and Laboratory Medicine (SMD)

Specialties

Neurology - American Board of Psychiatry and Neurology

Education

MD | Medicine | Lebanon-Sch Med Amer U Beirut1985
MS | Physiology | Lebanon - Non-Medical School1981
BS | Biology | Emory University1979

Post-Doctoral Training & Residency

Fellowship in Neuromuscular Disease at University of Rochester Medical Center07/01/1991 - 7/31/1993
Residency in Neurology at University of Rochester Medical Center07/01/1988 - 6/30/1991
Residency in Internal Medicine at Good Samaritan Hospital of Maryland07/01/1987 - 6/30/1988
Internship in Internal Medicine at Good Samaritan Hospital of Maryland07/01/1986 - 06/30/1987