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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

Stephan Zuchner, MD, PhD

Stephan Zuchner, MD, PhD

University of Miami, Miami, FL, USA

(2021-2023)
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 the current Chair of the CMTR Special Interest Group at PNS.

Vice Chair

Mary Reilly, MB, Bch, BAO, MD, FRCP, FRCPI, FMedSci

Mary Reilly, MB, Bch, BAO, MD, FRCP, FRCPI, FMedSci

UCL Queen Square Institute of Neurology, London, UK

(2021-2023)

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.

Past-Chair

Michael Shy, MD

Michael Shy, MD

University of Iowa, Carver College of Medicine, Iowa City, IA, USA

(2021-2023)

Dr. Shy is the Principal Investigator of the Inherited Neuropathy Consortium (INC) and the current Chair of the CMTR subgroup of the PNS. He has spent more than 25 years evaluating patients and developing both COA and biomarkers for patients with inherited neuropathies.

 

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

Alessandra Bolino, PhD

Alessandra Bolino, PhD

San Raffaele Hospital, Milan, Italy

(2019 -2023)

Bio coming soon.

Andrea Cortese, MD, PhD

Andrea Cortese, MD, PhD

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

(2021 – 2025)

Bio coming soon.

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 -2023)

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.

Matilde Laura, MD, PhD

Matilde Laura, MD, PhD

University College London Hospital, London, UK

(2019 – 2023)

Dr. Matilde Laurá is a consultant neurologist at the National Hospital for Neurology and Neurosurgery and Honorary Associate professor at the UCL Queen Square Institute of Neurology London, United Kingdom. Her clinical and research interest is Charcot-Marie-Tooth disease encompassing development of outcome measures and clinical trials.

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 Representatives – Ex-Officio

Kathryn R. Moss, PhD

Kathryn R. Moss, PhD

Johns Hopkins, Baltimore, MD, USA

(2021 -2023)

Dr. Kathryn Moss received her BS degree in Cellular and Molecular Biology from the University of Michigan and her PhD in Biochemistry, Cell and Developmental Biology from Emory University. She studied gene regulatory mechanisms required for neuronal development and function during her dissertation research. Dr. Moss is currently a postdoctoral fellow in the laboratory of Dr. Ahmet Höke at Johns Hopkins University School of Medicine. Her research is focused on understanding the pathogenesis of Charcot-Marie-Tooth disease Type 1A (CMT1A) and Hereditary Neuropathy with Liability to Pressure Palsies (HNPP). She is interested in mechanisms of myelin dysfunction and secondary axon degeneration in CMT1A and HNPP as well as the physiologic function of PMP22. Dr. Moss brings a unique perspective and dedication to her work due to her personal history with CMT1A as a patient. She is also actively engaged with the Peripheral Nerve Society as the Chair of the Junior Committee.

Leena Shingavi, M.B.B.S., pursuing PhD

Leena Shingavi, M.B.B.S., pursuing PhD

National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India

(2021 – 2023)

Bio coming soon.

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