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Rabi N. Tawil, M.D.

Contact Information

Phone Numbers

Appointment: (585) 275-2559

Office: (585) 275-2559

Fax: (585) 273-1255

URMFGA member of the University of Rochester Medical Faculty Group

groupAn Accountable Health Partner

assignmentAccepting New Patients

Faculty Appointments

Patient Care Setting

Neurology

Biography

Professional Background

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

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.

Credentials

Specialties

  • Neurology - American Board of Psychiatry and Neurology

Education

1979
BS | Emory University
Biology

1981
MS | Lebanon - Non-Medical School
Physiology

1985
MD | Lebanon-Sch Med Amer U Beirut
Medicine

Post-doctoral Training & Residency

7/01/1991 - 7/31/1993
Fellowship in Neuromuscular Disease at University of Rochester Medical Center

7/01/1988 - 6/30/1991
Residency in Neurology at University of Rochester Medical Center

7/01/1987 - 6/30/1988
Residency in Internal Medicine at Good Samaritan Hospital of Maryland

7/01/1986 - 06/30/1987
Internship in Internal Medicine at Good Samaritan Hospital of Maryland

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Awards

1994 - 1995
Buswell Fellowship Award
Location: University of Rochester

1991 - 1993
Muscular Dystrophy Association Fellowship

Patents

Patent Title: Physician Checklists for FSHD (Facioscapulohumeral Muscular Dystrophy) and DM (Myotonic Dystrophy)
Patent #:
Issue Date: Nov 16, 2011
Country: United States
Invented By: Michael McDermott, Richard T Moxley, III, Al-Rabi N Tawil, Charles A Thornton

Patent Title: Patient Information Forms for FSHD (Facioscapulohumeral Muscular Dystrophy), DM (Myotonic Dystrophy), and Unaffected Blood Relatives of Individuals with FSH
Patent #: TXu 1-790-681
Issue Date: Nov 16, 2011
Country: United States
Invented By: Michael McDermott, Richard T Moxley, III, Al-Rabi N Tawil, Charles A Thornton

Patent Title: Methods For Determining The Presence Or Risk Of Developing Facioscapulohumeral Dystrophy (FSHD)
Patent #: 3192880
Issue Date: Oct 09, 2019
Country: Europe
Invented By: Linda Geng, Stephen Tapscott, Al-Rabi N Tawil, Silvere van der Maarel

Patent Title: Methods For Determining The Presence Or Risk Of Developing Facioscapulohumeral Dystrophy (FSHD)
Patent #: FR3192880
Issue Date: Oct 09, 2019
Country: France
Invented By: Linda Geng, Stephen Tapscott, Al-Rabi N Tawil, Silvere van der Maarel

Patent Title: Methods For Determining The Presence Or Risk Of Developing Facioscapulohumeral Dystrophy (FSHD)
Patent #: DE3192880
Issue Date: Oct 09, 2019
Country: Germany
Invented By: Linda Geng, Stephen Tapscott, Al-Rabi N Tawil, Silvere van der Maarel

Patent Title: Methods For Determining The Presence Or Risk Of Developing Facioscapulohumeral Dystrophy (FSHD)
Patent #: GB3192880
Issue Date: Oct 09, 2019
Country: United Kingdom
Invented By: Linda Geng, Stephen Tapscott, Al-Rabi N Tawil, Silvere van der Maarel

Patent Title: Methods For Determining The Presence Or Risk Of Developing Facioscapulohumeral Dystrophy (FSHD)
Patent #: NL3192880
Issue Date: Oct 09, 2019
Country: Netherlands
Invented By: Linda Geng, Stephen Tapscott, Al-Rabi N Tawil, Silvere van der Maarel

Patent Title: Methods For Determining The Presence Or Risk Of Developing Facioscapulohumeral Dystrophy (FSHD)
Patent #: 2606152
Issue Date: Oct 05, 2016
Country: Europe
Invented By: Linda Geng, Stephen Tapscott, Al-Rabi N Tawil, Silvere van der Maarel

Patent Title: Methods For Determining The Presence Or Risk Of Developing Facioscapulohumeral Dystrophy (FSHD)
Patent #: FR2606152
Issue Date: Oct 05, 2016
Country: France
Invented By: Linda Geng, Stephen Tapscott, Al-Rabi N Tawil, Silvere van der Maarel

Patent Title: Methods For Determining The Presence Or Risk Of Developing Facioscapulohumeral Dystrophy (FSHD)
Patent #: 60 2011 031 061.5
Issue Date: Oct 05, 2016
Country: Germany
Invented By: Linda Geng, Stephen Tapscott, Al-Rabi N Tawil, Silvere van der Maarel

Patent Title: Methods For Determining The Presence Or Risk Of Developing Facioscapulohumeral Dystrophy (FSHD)
Patent #: GB2606152
Issue Date: Oct 05, 2016
Country: United Kingdom
Invented By: Linda Geng, Stephen Tapscott, Al-Rabi N Tawil, Silvere van der Maarel

Patent Title: Facioscapulohumeral Dystrophy Composite Outcome Measure (FSHD-COM)
Patent #: TXu 2-056-221
Issue Date: Aug 17, 2017
Country: United States
Invented By: Katy J Eichinger, Chad R Heatwole, Jeffery Statland, Al-Rabi N Tawil

Patent Title: Data Forms for: Cellular and Molecular Pathophysiology (CAMP) of Facioscapulohumeral Muscular Dystrophy (FSHD) Study
Patent #: TXu 1-666-178
Issue Date: Dec 18, 2009
Country: United States
Invented By: Al-Rabi N Tawil

Patent Title: DUX4-induced gene expression in Facioscapulohumeral Muscular Dystrophy (FSHD)
Patent #: 3119909
Issue Date: Nov 13, 2019
Country: Europe
Invented By: Stephen Tapscott, Al-Rabi N Tawil, Zizhen Yao, Silvere van der Maarel

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Publications

Journal Articles

7/2018
Balog J, Goossens R, Lemmers RJLF, Straasheijm KR, van der Vliet PJ, Heuvel AVD, Cambieri C, Capet N, Feasson L, Manel V, Contet J, Kriek M, Donlin-Smith CM, Ruivenkamp CAL, Heard P, Tapscott SJ, Cody JD, Tawil R, Sacconi S, van der Maarel SM. "Monosomy 18p is a risk factor for facioscapulohumeral dystrophy." Journal of medical genetics.. 2018 Jul 0; 55(7):469-478. Epub 2018 Mar 21.

5/10/2018
Crow RA, Hart KA, McDermott MP, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Hirtz D, Lochmuller H, Straub V, Ciafaloni E, Shieh PB, Spinty S, Childs AM, Manzur AY, Morandi L, Butterfield RJ, Horrocks I, Roper H, Flanigan KM, Kuntz NL, Mah JK, Morrison L, Darras BT, von der Hagen M, Schara U, Wilichowski E, Mongini T, McDonald CM, Vita G, Barohn RJ, Finkel RS, Wicklund M, McMillan HJ, Hughes I, Pegoraro E, Bryan Burnette W, Howard JF, Thangarajh M, Campbell C, Griggs RC, Bushby K, Guglieri M. "A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial." Trials.. 2018 May 10; 19(1):291. Epub 2018 May 10.

5/8/2018
Lim JW, Wong CJ, Yao Z, Tawil R, van der Maarel SM, Miller DG, Tapscott SJ, Filippova GN. "Small noncoding RNAs in FSHD2 muscle cells reveal both DUX4- and SMCHD1-specific signatures." Human molecular genetics.. 2018 May 8; Epub 2018 May 08.

Books & Chapters

2008
Chapter Title: Facioscapulohumeral Dystrophy
Book Title: The Molecular and Genetic Basis of Neurologic and Psychiatric Disease
Author List: Tawil, Rabi
Edited By: Rosenburg RN, DiMauro S, Paulson HL, Ptacek L, Nestler EJ
Published By: Wolters Kluwer/Lippincott Williams & Wilkins 2008 in Philadelphia, PA

2006
Chapter Title: Channelopathies: myotonic disorders and periodic paralysis
Book Title: Pediatric Neurology
Author List: Moxley III RT, Tawil R
Edited By: Swaiman KF, Ashwal S and Ferriero DM
Published By: Mosby 2006 in St. Louis

2005
Chapter Title: Periodic paralyses and associated disorders
Book Title: Neurobase - in Medlink CD ROM (updated yearly)
Author List: Tawil R, Cleland J
Edited By: Gilman S, Goldstein GW, Waxman SG
Published By: Arbor Publishing 2005 in San Diego

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Videos

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The challenge of unraveling the genetics of FSHD