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CMTR Board of Directors

Charcot-Marie-Tooth and Related Neuropathies Consortium

Meet the CMTR Board

The CMTR Board of Directors meets quarterly to discuss progress on current initiatives, organize webinars and the program for the annual meeting and set priorities for the future of the organization. Board officers are elected biannually and board members are elected quadrennially. Please reach out with any feedback.

Questions, Comments or Suggestions? Please contact:

info@PNSociety.com

Officers

Chair

Mary Reilly, MD

Mary Reilly, MD

UCL Queen Square Institute of Neurology, London, UK

(2023-2025)

Mary M. Reilly graduated from University College Dublin in 1986, received her MD in 1996, FRCP in 2002 and FRCPI in 2003. She was appointed a consultant neurologist at the National Hospital for Neurology and Neurosurgery, Queen Square in 1998 and a Professor of Clinical Neurology at UCL in 2010. She leads the peripheral nerve clinical and research group and is head of the Division of Clinical Neurology in UCL Queen Square Institute of Neurology. She runs a research program in the inherited neuropathies encompassing gene identification, pathogenetic studies, natural history studies, development of outcome measures and conducting clinical trials. She is a Past President of the Association of British Neurologists (ABN), a past President of the British Peripheral Nerve Society (BPNS), and a past President of the international Peripheral Nerve Society (PNS). She was elected a Fellow of the Academy of Medical Sciences in 2020.

Vice Chair

Joshua Burns, PhD

Joshua Burns, PhD

The University of Sydney, Sydney, Australia

(2023-2025)

Joshua Burns, Ph.D., is Professor of Paediatric Neuromuscular Rehabilitation and Head of School and Dean of the Sydney School of Health Sciences in the Faculty of Medicine and Health at the University of Sydney, Australia. He co-leads the Peripheral Neuropathy Management Clinic at the Children’s Hospital at Westmead, and is Director of the Paediatric Gait Analysis Service of New South Wales at the Sydney Children’s Hospitals Network.

Dr. Burns is the inventor of ClinicalOutcomeMeasures.org, a web-based scoring system for monitoring response to therapy, housing key clinical trial endpoints such as the Charcot-Marie-Tooth Pediatric Scale (CMTPedS), CMT Functional Outcome Measure (CMT-FOM), CMT Infant Scale (CMTInfS), Rasch-modified CMT Neuropathy Score (CMTNSv2-R), and items from the 1000 Norms Project.

Past-Chair

Stephan Zuchner, MD, PhD

Stephan Zuchner, MD, PhD

University of Miami, Miami, FL, USA

(2023-2025)

Stephan Züchner, M.D., Ph.D., is a Professor of Human Genetics and Neurology at the University of Miami Miller School of Medicine. He received his degrees from the University RWTH Aachen, Germany and an honorary doctoral degree from the Semmelweis Medical School in Budapest. His research interests are focused on identifying strong genetic variation associated with disease. His lab been involved in identifying many CMT genes and CMT modifier genes. He also leads the GENESIS database for rare neurological diseases, which is widely used in CMT genomics studies. More recently his team is working on genetic therapies for CMT and related disorders. Other relevant roles include his leadership in the ClinGen efforts for CMT and he is a member and Past-Chair of the CMTR Special Interest Group at PNS.

 

Secretary

Alexander Rossor, MBBS, PhD, FRCP

Alexander Rossor, MBBS, PhD, FRCP

UCL Queen Square Institute of Neurology, London, UK

(2021-2025)

Alex Rossor is an honorary consultant neurologist and previous Wellcome Trust Post-Doctoral Clinical Fellow at the UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, United Kingdom. His research and clinical interest is Charcot-Marie-Tooth disease and related disorders in which peripheral neuropathy is seen as part of a complex multi-system disease.

 

Board Members

Maurizio D'Antonio, PhD

Maurizio D'Antonio, PhD

IRCCS Ospedale San Raffaele, Milan, Italy

(2023 -2027)

Dr. Maurizio D’Antonio received his MSc from the University of Milan and his PhD in Cell and Molecular Biology from University College London. He is currently the Group Leader of the Biology of Myelin Unit at the IRCCS Ospedale San Raffaele in Milan, Italy. The D’Antonio lab has a long-standing interest in Schwann cell myelination, and has been using transgenic mouse models to understand the pathomechanisms of various forms of Charcot-Marie-Tooth (CMT) disease. His work has been pivotal in identifying the activation of the unfolded protein response (UPR) as a key mechanism for many CMT mutations, and his laboratory is now devoted to understand how myelin protein misfolding causes disease, and how the UPR can be targeted for therapeutic intervention. Dr. D’Antonio is a member of the Scientific Advisory Board of the Charcot-Marie-Tooth Association (CMTA), and Board member of the International Charcot-Marie-Tooth and Related Neuropathies Consortium (CMTR).

Andrea Cortese, MD, PhD

Andrea Cortese, MD, PhD

UCL Institute of Neurology, London (UK)/University of Pavia, Pavia, Italy

(2021 – 2025)

Dr. Cortese is a neurologist and MRC clinician scientist at the University College London, UK and University of Pavia, Italy. His research focuses on the discovery and modelling of novel causes of CMT, with particular interest in repeat expansion disorders and conditions caused by variations in non-coding DNA. His main impact on the CMT field was the identification of RFC1 repeat expansion and SORD mutation as common causes of inherited neuropathy. Notably, a late-stage trial for the treatment of SORD-CMT is currently active, only two years after the identification of the SORD gene, which, if successful, may represent the first available treatment for patients with CMT.

David Herrmann, MBBCh, FAAN

David Herrmann, MBBCh, FAAN

University of Rochester, Rochester, NY, USA

(2023 – 2027)

Dr. Herrmann is Unit Chief of the Neuromuscular Unit & Director of the Peripheral Neuropathy Clinics and Cutaneous Innervation Laboratory at the University of Rochester. Clinically his interests are in the diagnosis and care of patients with various types of peripheral neuropathy. He has a particular interest in inherited neuropathies (Charcot Marie Tooth neuropathy and related disorders). Dr. Herrmann additionally established one of the first cutaneous innervation laboratories in the USA at University of Rochester in 2000, for diagnosis of small fiber neuropathy. Dr. Herrmann’s current research interests include inherited neuropathies and he is Principal Investigator in Rochester for the NIH sponsored Inherited Neuropathy Consortium Rare Disease Clinical Research Center. Dr. Herrmann focuses on new gene identification for inherited neuropathies, development of novel neuropathy outcome measures and biomarkers and experimental therapeutics.

Marina Kennerson, BSc, MSc, PhD

Marina Kennerson, BSc, MSc, PhD

ANZAC Research Institute, Concord, Australia

(2017 – 2025)

Dr Kennerson is a Professor of Neurogenetics/Neurosciences with the ANZAC Research Institute, Sydney Local Health District and the Sydney Medical School, University of Sydney, Australia. She heads the Translational Gene Discovery and Functional Genomics Inherited Peripheral Neuropathies Program at the ANZAC Research Institute. Her team has discovered several neuropathy genes and is doing pioneering research to investigate the role of structural variation and their role in new disease mechanisms for hereditary neuropathies. Her research program includes functional studies for recent gene (ATP7A and PDK3) and SV mutation (CMTX3 and DHMN1) discoveries using induced pluripotent stem cell derived motor neurons and animal models (C. elegans). Marina is the Scientific Secretariat of the Asian Oceanic Inherited Neuropathy Consortium (AOINC), a member of the International Charcot-Marie-Tooth and Related Neuropathies Consortium (CMTR) Board and serves on the Scientific Advisory Board of the CMT Research Foundation.

Kleopas Kleopa, MD, FAAN

Kleopas Kleopa, MD, FAAN

The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus

(2019 -2027)

Dr. Kleopa is a Professor and Senior Neurologist at the Cyprus Institute of Neurology and Genetics. He cares for patients with inherited and other neuromuscular diseases. He coordinates the Center for Neuromuscular Disorders delivering multidisciplinary clinical care and providing cutting edge therapeutics. Dr. Kleopa also leads the Neuroscience Department focusing on translational research. His research group has made significant contributions to the understanding of neurological disease mechanisms and to the development of cell-targeted gene therapies for inherited neuropathies and leukodystrophies. His work has been recognized by numerous prestigious Awards including the European Academy of Neurology Investigator Award and the Cyprus National Distinguished Researcher Award. He is a Board Member of the International Charcot-Marie-Tooth and Related Disorders Consortium. He also serves as Member of the Scientific Advisory Boards of the USA CMT Association and of the Gilbert Foundation Neurofibromatosis Gene Therapy Initiative.

Isabella Moroni, MD

Isabella Moroni, MD

Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy

(2021 – 2025)

Dr. Isabella Moroni earned her MD and specialization in Neurology at the University of Milan, and since 1995 she was appointed as an associate in Child Neurology at the IRCCS Foundation Neurological Institute Carlo Besta, Milan, Italy. She leads a clinical group whose main research activity is on genetic diseases of central and peripheral nervous system, including Charcot-Marie-Tooth disease and related disorders. Her research programs are focused on definition of new genotype-phenotype correlations, natural history studies and development of outcome measures for children.

Junior Committe Representative – Ex-Officio

Bipasha Mukherjee-Clavin, MD, PhD

Bipasha Mukherjee-Clavin, MD, PhD

Johns Hopkins, Baltimore, MD, USA

(2023 -2025)

Dr. Bipasha Mukherjee-Clavin, MD, PhD, is an Assistant Professor of Neurology, Neuromuscular division, and co-Director of the Charcot Marie Tooth clinic at Johns Hopkins University.  She is a CMT-focused physician-scientist and during her PhD she published one of the first studies of CMT1A using patient derived stem cells.  She is now developing a translational lab focused on the use of patient-derived induced pluripotent stem cells to model genetic Schwann cell and peripheral nerve disorders to uncover novel pathways and potential treatments.  In 2023 she was named one of the Charcot Marie Tooth Association’s “40 under 40” researchers making significant strides in reshaping our comprehension of CMT.  She is the junior representative on the Charcot-Marie-Tooth and Related Neuropathies Consortium (CMTR) Board and serves on the Scientific Advisory Board of the CMT Research Foundation.

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