Marina Kennerson, BSc (Hons), MSc (Med), PhD

Marina Kennerson, BSc (Hons), MSc (Med), PhD

ANZAC Research Institute University of Sydney

Anita Harding Lecture – Exploring Beyond the Exome: A CMT Genetics Odyssey from Exome to Structural Variation and Non-Coding Mutations

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 its 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 a board member of the Charcot-Marie-Tooth and Related Neuropathies Consortium (CMTR), Chair of the Asian Oceanic Inherited Neuropathy Consortium (AOINC) and serves on the Scientific Advisory Board of the CMT Research Foundation.

 

Richard Lewis, MD

Cedars-Sinai Medical Center

Presidential Lecture – Understanding Demyelinating Neuropathies: My Personal Journey

Prof. Richard Lewis is currently a Professor of Neurology at Cedars-Sinai Medical Center in Los Angeles, California. He is the Interim Director of the Neuromuscular Program, Director of the EMG Laboratory, ALS, and adult MDA Clinics.

Prof. Lewis was born and raised in New York City. He obtained his MD from the Medical College of Virginia in 1974 and completed his neurology residency at the University of Pennsylvania in 1978. He stayed on faculty at Penn for a few years and then moved to the University of Connecticut to develop the neuromuscular program and soon after to Norfolk, Virginia where he was in a group clinical practice for 10 years. He then returned to academia as Associate Clinical Chair of Neurology at Wayne State University from 1993 until 2012 when he moved to Cedars-Sinai.

Throughout his career, Prof. Lewis has maintained an interest in the clinical and electrophysiologic aspects of both immune-mediated and inherited demyelinating neuropathies.

He lives in Los Angeles with his wife, Lynn, and now has both his son and daughter and his 5 young grandsons in the area. He is an amateur violinist who enjoys classical, bluegrass, newgrass, and jazz music.

 

Giampietro Schiavo, PhD

University College London

Jonathan Pembroke Lecture – Therapeutic Approaches for Hereditary Peripheral Neuropathies and Motor Neuron Disease

The laboratory of Professor Schiavo operates in the Department of Neuromuscular Diseases at the UCL Queen Square Institute of Neurology (http://www.ucl.ac.uk/ion/departments/sobell/Research/GSchiavo). Professor Schiavo, who is a UK Dementia Research Institute Investigator, has a long-term interest in the mechanisms of action of neurotoxins, in particular tetanus and botulinum toxins, and their exploitation as tools in cell biology. His group has clarified key steps in the mechanism of synaptic endo-exocytosis, and the recruitment of ligand-receptor complexes to signaling endosomes moving along the axonal retrograde transport route. This essential transport pathway, which delivers a variety of organelles and molecular complexes to the neuronal soma, is impaired in several nervous system pathologies, such as Charcot Marie Disease and motor neuron disease.

 

Claudia Sommer, MD, Prof. Dr. mde

Universitätsklinikum Würzburg

Anita Harding Lecture – Exploring Beyond the Exome: A CMT Genetics Odyssey from Exome to Structural Variation and Non-Coding Mutations

Claudia Sommer is a Professor of Neurology at the University of Würzburg, Germany. She received training in neurology, psychiatry, neuropathology, and experimental pain research. At the University Hospital of Würzburg, she serves as a consultant in neurology, organizes outpatient clinics for patients with neuromuscular disorders, pain and headache, and she leads the Peripheral Nerve Laboratory. Research interests are the pathophysiology of inflammatory neuropathies, of pain, and of antibody-mediated diseases. She has written more than 250 original research papers and more than 100 reviews and book-chapters and edited several books. She has served as President of the German Pain Society in 2019-2020 and is currently (2020-2022) President of the International Society for the Study of Pain. She is a Fellow of the European Academy of Neurology, a Board member of the Peripheral Nerve Society (PNS) and the International Research Consortium for CRPS.

 

John Svaren, MD

University of Wisconsin-Madison

Richard and Mary Bunge Lecture: TBD

John Svaren, Ph.D. is a Professor at the University of Wisconsin-Madison and a member of the Waisman Center, which is dedicated to research in developmental disabilities. His laboratory investigates the role of transcriptional and epigenomic changes in the dynamic reprogramming of Schwann cells during development and after nerve injury, as Schwann cells play multiple pro-regenerative roles. Our studies also include translational projects related to peripheral neuropathy as we have been engaged in identifying regulatory elements in the human PMP22 gene, which is duplicated in one of the most common forms of Charcot-Marie-Tooth disease. Finally, our investigations of gene networks involved in Schwann cell homeostasis and peripheral neuropathy have contributed to development of biomarkers that can be used in clinical trials for CMT. He is a member of the board of the Charcot-Marie-Tooth Association, and chair of its scientific advisory board.

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