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Johanna Hamel, M.D.

Johanna Hamel, M.D.

Contact

Appointment (585) 275-2559

About Me

Dr. Hamel is Assistant Professor of Neurology, Pathology and Laboratory Medicine and specialized in the diagnosis and treatment of neuromuscular diseases. Dr. Hamel cares for patients with acquired and hereditary neuromuscular diseases in clinic, with special expertise in myotonic dystrophy (DM) typ...
Dr. Hamel is Assistant Professor of Neurology, Pathology and Laboratory Medicine and specialized in the diagnosis and treatment of neuromuscular diseases. Dr. Hamel cares for patients with acquired and hereditary neuromuscular diseases in clinic, with special expertise in myotonic dystrophy (DM) type 1 and type 2 and FSHD. She also performs electrodiagnostic studies in the EMG lab and teaches residents in neuromuscular diseases. She graduated from medical school at the Martin-Luther-University Halle-Wittenberg in Germany, worked as a neurology resident and researcher at the Charité in Berlin before completing neurology residency and a clinical neuromuscular fellowship at the University of Rochester.

Faculty Appointments

Associate Professor - Department of Neurology, NMD (SMD)

Associate Professor - Department of Pathology and Laboratory Medicine (SMD) - Joint

Credentials

Post-doctoral Training & Residency

Fellowship, Fellow, University of Rochester School of Medicine GME. 2017 - 2019

Fellowship, Neuromuscular Medicine, University of Rochester Medical Center. 2016 - 2017

Residency, Resident, University of Rochester Medical Center. 2013 - 2016

Internship, Internal Medicine, University of Rochester Medical Center. 2012 - 2013

Residency, Resident, Charite-Universitatsmedizin Berlin (Germany). 2010 - 2012

Medical School, Johannes Gutenberg University Of Mainz-Fachbereich Medizin (Germany). 2007 - 2009

Education

MD | Martin Luther Universitaet Halle Wittenberg (Germany). 2009

Awards

Clinical Research Training Fellowship in Muscular Dystrophy. 2017 - 2019

Arnold P. Gold Foundation Award, Humanism and Excellence in Teaching Award.

Scholarship for Young Neuroscientists.

Research

Dr. Hamel completed the experimental therapeutics research training fellowship at the University of Rochester. Her research is focused on advancing our understanding of the underlying molecular mechanism in myotonic dystrophy type 1 and type 2. She also studies the progression of disease and evaluat...
Dr. Hamel completed the experimental therapeutics research training fellowship at the University of Rochester. Her research is focused on advancing our understanding of the underlying molecular mechanism in myotonic dystrophy type 1 and type 2. She also studies the progression of disease and evaluates clinical outcome measures and biomarkers. She is involved in several clinical trials and studies involving muscle diseases, with focus on DM and FSHD.

Clinical Trials

A Phase 1 Placebo-Controlled Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Single-Ascending Doses of PGN-EDODM1 in Adult Participants With Myotonic Dystrophy Type 1 (FREEDOM-DM1)

Lead Researcher: Johanna Hamel

The purpose of this study is to learn about the effects of an “investigational” drug, PGN-EDODM1, and to see how safe and tolerable PGN-EDODM1 is for people with myotonic dystrophy type 1 compared to placebo. The study consists of 2 periods: A Screen...

A Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study to Evaluate the Efficacy of ManNAc in Subjects With GNE Myopathy

Lead Researcher: Johanna Hamel

GNE myopathy is a rare genetic muscle disease characterized by progressive muscle atrophy and weakness. The disease is caused by mutations in the gene that encodes the enzyme that initiates and regulates N-acetylneuraminic acid (Neu5Ac)...

Publications

Journal Articles

Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial.

Tawil R, Wagner KR, Hamel JI, Leung DG, Statland JM, Wang LH, Genge A, Sacconi S, Lochmüller H, Reyes-Leiva D, Diaz-Manera J, Alonso-Perez J, Muelas N, Vilchez JJ, Pestronk A, Gibson S, Goyal NA, Hayward LJ, Johnson N, LoRusso S, Freimer M, Shieh PB, Subramony SH, van Engelen B, Kools J, Leinhard OD, Widholm P, Morabito C, Moxham CM, Cadavid D, Mellion ML, Odueyungbo A, Tracewell WG, Accorsi A, Ronco L, Gould RJ, Shoskes J, Rojas LA, Jiang JG

The Lancet. Neurology.. 2024 May 23 (5):477-486. Epub 1900 01 01.

Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1.

Nutter CA, Kidd BM, Carter HA, Hamel JI, Mackie PM, Kumbkarni N, Davenport ML, Tuyn DM, Gopinath A, Creigh PD, Sznajder ?J, Wang ET, Ranum LPW, Khoshbouei H, Day JW, Sampson JB, Prokop S, Swanson MS

Brain : a journal of neurology.. 2023 May 5 Epub 05/05/2023.

Clinical Spectrum and Prognosis in Patients With Acute Nutritional Axonal Neuropathy.

Hamel JI, Logigian EL

Neurology.. 2023 March 27 Epub 03/27/2023.

Myotonic Dystrophy.

Hamel JI

Continuum : lifelong learning in neurology.. 2022 December 128 (6):1715-1734. Epub 1900 01 01.

Milestones of progression in myotonic dystrophy type 1 and type 2.

Hamel JI, McDermott MP, Hilbert JE, Martens WB, Luebbe E, Tawil R, Moxley RT, Thornton CA

Muscle & nerve.. 2022 July 1 Epub 07/01/2022.

Benefits of aerobic exercise in myotonic dystrophy type 1.

Mackenzie SJ, Hamel J, Thornton CA

The Journal of clinical investigation.. 2022 May 16132 (10)Epub 1900 01 01.

Remote Assessment of Myotonic Dystrophy Type 1: A Feasibility Study.

Hamel J, Creigh PD, Dekdebrun J, Eichinger K, Thornton CA

Muscle & nerve.. 2022 April 15 Epub 04/15/2022.

Case Studies on the Genetic and Clinical Diagnosis of Facioscapulohumeral Muscular Dystrophy.

Hamel J, Tawil R

Neurologic clinics.. 2020 August 38 (3):529-540. Epub 1900 01 01.

MRI Correlates with Electrical Impedance Myography in Facioscapulohumeral Muscular Dystrophy.

Hamel J, Lee P, Glenn MD, Burka T, Choi IY, Friedman S, Shaw D, McCalley A, Herbelin L, Dimachkie MM, Lemmers R, van der Maarel SM, Barohn RJ, Tawil R, Statland JM

Muscle & nerve.. 2019 December 29 Epub 12/29/2019.

Patient-Reported Symptoms in Facioscapulohumeral Muscular Dystrophy (PRISM-FSHD).

Hamel J, Johnson N, Tawil R, Martens WB, Dilek N, McDermott MP, Heatwole C

Neurology.. 2019 September 1793 (12):e1180-e1192. Epub 08/13/2019.

Facioscapulohumeral Muscular Dystrophy: Update on Pathogenesis and Future Treatments.

Hamel J, Tawil R

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics.. 2018 October 15 (4):863-871. Epub 1900 01 01.

The prognosis of electrodiagnosis.

Hamel J, Logigian EL

Muscle & nerve.. 2018 August 58 (2):178-181. Epub 06/13/2018.

Factors associated with distal symmetric polyneuropathies in adult Zambians: A cross-sectional, observational study of the role of HIV, non-antiretroviral medication exposures, and nutrition.

Kvalsund M, Chidumayo T, Hamel J, Herrmann D, Heimburger D, Peltier A, Birbeck G

Journal of the neurological sciences.. 2018 May 15388 :61-69. Epub 02/22/2018.

An Update: Myasthenia Gravis and Pregnancy.

Hamel J, Ciafaloni E

Neurologic clinics.. 2018 May 36 (2):355-365. Epub 1900 01 01.

Acute nutritional axonal neuropathy.

Hamel J, Logigian EL

Muscle & nerve.. 2018 January 57 (1):33-39. Epub 06/19/2017.

Fingolimod-associated PML in a patient with prior immunosuppression.

Gyang TV, Hamel J, Goodman AD, Gross RA, Samkoff L

Neurology.. 2016 May 1086 (19):1843-5. Epub 04/13/2016.

Compensatory eye and head movements of patients with homonymous hemianopia in the naturalistic setting of a driving simulation.

Bahnemann M, Hamel J, De Beukelaer S, Ohl S, Kehrer S, Audebert H, Kraft A, Brandt SA

Journal of neurology.. 2015 February 262 (2):316-25. Epub 11/09/2014.

Age-related changes in visual exploratory behavior in a natural scene setting.

Hamel J, De Beukelaer S, Kraft A, Ohl S, Audebert HJ, Brandt SA

Frontiers in psychology.. 2013 4 :339. Epub 06/21/2013.

Ocular hyperintense acute reperfusion marker.

Hamel J, Fiebach JB, Villringer K

Neurology.. 2012 October 979 (15):1622-3. Epub 09/26/2012.

Driving simulation in the clinic: testing visual exploratory behavior in daily life activities in patients with visual field defects.

Hamel J, Kraft A, Ohl S, De Beukelaer S, Audebert HJ, Brandt SA

Journal of visualized experiments : JoVE.. 2012 September 18 (67):e4427. Epub 09/18/2012.

The man behind the eponym: Hans Biberstein and follicular hyperplasia overlying dermatofibroma.

Hamel J, Burgdorf WH, Bräuninger W

The American Journal of dermatopathology.. 2009 October 31 (7):710-4. Epub 1900 01 01.

Books

Neurological Diseases in Pregnancy (2018)

Chapter: Neuromuscular Diseases: Myasthenia Gravis, Spinal Muscular Atrophy, Nondystrophic Myotonias, and Muscular Dystrophies

Authors: Hamel, J and Ciafaloni, E.

Publisher: Oxford 2018

MedLink Neurology (2015)

Chapter: Systemic Small Vessel Vasculitis

Authors: Hamel, J and Goodman, A.

Publisher: MedLink Corporation 2015

Locations

Clinton Crossings

919 Westfall Rd, Bldg C, Ste 220
Rochester, NY 14618-2628

Strong Memorial Hospital

601 Elmwood Ave, AC-1
Rochester, NY 14642-0001