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Al-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

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Locations

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

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

Education

1985
MD | American University of Beirut

Post-doctoral Training & Residency

07/01/1991 - 07/31/1993
Fellowship in Neuromuscular Medicine at University of Rochester Medical Center

07/01/1988 - 06/30/1991
Residency in Neurology at University of Rochester Medical Center

07/01/1987 - 06/30/1988
Residency in Internal Medicine at Good Samaritan Hospital

07/01/1986 - 06/30/1987
Internship in Internal Medicine at Good Samaritan Hospital

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Awards

1994 - 1995
Buswell Fellowship Award
Location: University of Rochester

1991 - 1993
Muscular Dystrophy Association Fellowship

Clinical Trials

National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members

Lead Researcher: Al-rabi N Tawil

Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are inherited disorders characterized by progressive muscle weakness and loss of muscle tissue. The purpose of this registry is to connect people with DM or FSHD with researchers studying these diseases. The registry will offer individuals with DM and FSHD an opportunity to participate in research that focuses of their diseases. The registry will also help scientists to accomplish research on DM and FSHD and to distribute their findings to patients and care providers.

View Study Details

Patents

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 Alleviating Facioscapulohumeral Dystrophy (FSHD) by an SiRNA Molecule Inhibiting the Expression of
Patent #: 10,865,445
Issue Date: Dec 15, 2020
Country: United States
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 #: 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 #: 602011062701.5
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 #: 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

Patent Title: DUX4-induced gene expression in Facioscapulohumeral Muscular Dystrophy (FSHD)
Patent #: FR319909
Issue Date: Nov 13, 2019
Country: France
Invented By: Stephen Tapscott, Al-Rabi N Tawil, Zizhen Yao, Silvere van der Maarel

Patent Title: DUX4-induced gene expression in Facioscapulohumeral Muscular Dystrophy (FSHD)
Patent #: 602015041689.9
Issue Date: Nov 13, 2019
Country: Germany
Invented By: Stephen Tapscott, Al-Rabi N Tawil, Zizhen Yao, Silvere van der Maarel

Patent Title: DUX4-induced gene expression in Facioscapulohumeral Muscular Dystrophy (FSHD)
Patent #: GB319909
Issue Date: Nov 13, 2019
Country: United Kingdom
Invented By: Stephen Tapscott, Al-Rabi N Tawil, Zizhen Yao, Silvere van der Maarel

Patent Title: DUX4-induced gene expression in Facioscapulohumeral Muscular Dystrophy (FSHD)
Patent #: NL3119909
Issue Date: Nov 13, 2019
Country: Netherlands
Invented By: Stephen Tapscott, Al-Rabi N Tawil, Zizhen Yao, Silvere van der Maarel

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Publications

Journal Articles

1/10/2023
Tihaya MS, Mul K, Balog J, de Greef JC, Tapscott SJ, Tawil R, Statland JM, van der Maarel SM. "Facioscapulohumeral muscular dystrophy: the road to targeted therapies." Nature reviews. Neurology.. 2023 Jan 10; Epub 2023 Jan 10.

7/1/2022
Hamel JI, McDermott MP, Hilbert JE, Martens WB, Luebbe E, Tawil R, Moxley RT, Thornton CA. "Milestones of progression in myotonic dystrophy type 1 and type 2." Muscle & nerve.. 2022 Jul 1; Epub 2022 Jul 01.

6/24/2022
Mellion ML, Widholm P, Karlsson M, Ahlgren A, Tawil R, Wagner KR, Statland JM, Wang L, Shieh PB, van Engelen BGM, Kools J, Ronco L, Odueyungbo A, Jiang J, Han JJ, Hatch M, Towles J, Leinhard OD, Cadavid D. "Quantitative Muscle Analysis in FSHD Using Whole-Body Fat-Referenced MRI: Composite Scores for Longitudinal and Cross-Sectional Analysis." Neurology.. 2022 Jun 24; Epub 2022 Jun 24.

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

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