CMTA Gives Michael E. Shy First Lifetime Achievement Award

The Charcot-Marie-Tooth Association honored neurologist Michael E. Shy, MD, at its 2026 Patient & Research Summit in San Francisco for more than 30 years of work on CMT care and research. His research helped identify CMT genes, build research networks, and support the shift toward clinical trials and gene therapy studies.

Why it matters: - Michael E. Shy’s work has helped move Charcot-Marie-Tooth disease research from gene discovery to treatment development. - CMT affects about 1 in 2,500 people and still has no approved treatment, but multiple therapies are now in clinical trials. - Dr. Shy’s research tools and patient networks have made it easier to study rare forms of CMT and measure whether new treatments work.

What happened: - The Charcot-Marie-Tooth Association presented Dr. Shy with its first-ever Lifetime Achievement Award on Oct. 11 at the 2026 CMTA Patient & Research Summit in San Francisco. - The award recognized more than 30 years of clinical care and research focused on people with CMT. - Dr. Shy is a professor of neurology, pediatrics, and molecular physiology and biophysics at the University of Iowa and directs the Division of Neuromuscular Medicine. - He is a board-certified neurologist specializing in neuromuscular diseases and inherited neuropathies.

The details: - Dr. Shy helped identify more than 30 CMT genes, giving families more precise diagnoses and, in some cases, access to trials for specific subtypes. - He developed widely used tools to measure CMT in adults and children, including approaches using MRI, skin biopsy, and blood biomarkers. - His laboratory has advanced understanding of how several forms of CMT develop, and he has published more than 300 papers. - In 2001, Dr. Shy and CMTA established the North American CMT Database. - The database grew into the Inherited Neuropathy Consortium, a worldwide network of 20 research institutions with clinical data from 10,000 people with CMT. - Dr. Shy secured 15 years of NIH support for the consortium and later partnered with CMTA to continue the work at the CMTA-INC. - The consortium helped lead ACT-CMT, a University of Rochester study led by Dr. David Herrmann that tracks how CMT1A changes over time. - Dr. Shy joined the CMTA Board of Directors in 1998. - He helped launch CMTA’s Strategy to Accelerate Research in 2009 and now co-chairs its Clinical Expert Board. - CMTA CEO Sue Bruhn, PhD, said Dr. Shy has shaped nearly every part of the field, from diagnosis and measurement to training and trial networks. - Steve Scherer, MD, PhD, said Dr. Shy has remained committed for decades to finding causes and treatments for people with CMT.

Between the lines: - Dr. Shy’s work shows how rare-disease research depends on long-running collaborations, shared data, and standardized measures. - The move from understanding CMT genes to running drug and gene therapy trials signals a more advanced treatment pipeline than the field had a decade ago. - The CMTA-INC and related studies give researchers the baseline natural-history data needed before treatment effects can be judged. - Dr. Shy’s role across patient care, research, and advocacy suggests the award also recognizes infrastructure-building, not just scientific discovery.

What's next: - Dr. Shy continues to lead clinical trials, including the INSPIRE trial in CMT-SORD, the CMT-SYNAPSE study, and a gene therapy trial for CMT4J. - Through the CMTA-INC, he is leading natural-history and biomarker studies in CMT2A, CMT1X, CMT1B, and CMT2F. - Dr. Shy and Robert Piper, PhD, are developing preclinical models to identify the best time to intervene in CMT1A and CMT1E. - The goal is to help future therapies reach patients when they are most likely to work. - Dr. Shy said there is still much more to do and that he looks forward to continuing the work with CMTA.

The bottom line: - CMTA’s first Lifetime Achievement Award underscores how one clinician-scientist helped build the research foundation now pushing CMT toward treatments.