CMTA Honors World-Renowned Clinician Michael E. Shy, MD, with Lifetime Achievement Award

Dr. Shy’s decades of work have helped identify CMT genes and establish research networks, while he has cared for generations of families with CMT.

GLENOLDEN, PA, UNITED STATES, October 12, 2026 /EINPresswire.com/ — For more than 30 years, neurologist Michael E. Shy, MD, has cared for people with Charcot-Marie-Tooth disease (CMT) and led research to understand and treat it. On October 11, the Charcot-Marie-Tooth Association (CMTA) presented Dr. Shy with its first-ever Lifetime Achievement Award at the 2026 CMTA Patient & Research Summit in San Francisco.

Dr. Shy is a professor of neurology, pediatrics, and molecular physiology and biophysics at the University of Iowa, where he directs the Division of Neuromuscular Medicine. He is a board-certified neurologist specializing in neuromuscular diseases, focusing his clinical and research work on inherited neuropathies and developing potential treatments.

CMT affects about 1 in 2,500 people and still has no approved treatment. That is beginning to change. New therapies, including gene therapy, are now in clinical trials, made possible in large part by Dr. Shy’s work identifying CMT genes, developing ways to measure the disease, and building a research network of thousands of patients.

“Mike has been part of CMTA for decades, and it is difficult to separate his story from ours,” said Sue Bruhn, PhD, CMTA CEO. “It is equally difficult to look at CMT today and find an area he hasn’t shaped. He has cared for generations of families with CMT, defined how we measure and understand the disease, helped uncover its genetic causes, trained CMT clinicians and researchers, and built the networks that connect the field. He continues to lead clinical trials and has helped build the CMT field we know today. We are deeply grateful for everything he has given to CMTA and the CMT community, and proud to recognize him with this award.”

Finding the causes and measuring the disease

CMT is not one disease but many, each tied to different genes. Dr. Shy helped identify more than 30 of them, giving families a precise diagnosis and, increasingly, a path into trials for their specific form of CMT.

Because CMT progresses slowly, it is hard to tell whether a treatment is helping. Dr. Shy developed the most widely used tools for measuring CMT in adults and children, along with MRI, skin biopsy, and blood biomarkers. These tools let researchers show whether a new treatment works.
His laboratory has advanced understanding of how several forms of CMT develop, and he has published more than 300 papers.

Building the research infrastructure

Because CMT is rare, no single clinic sees enough patients to answer the field’s biggest questions. In 2001, Dr. Shy and CMTA established the North American CMT Database. It grew into the Inherited Neuropathy Consortium (INC), now 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 INC and partnered with CMTA to continue the work at the CMTA-INC. The INC also led to ACT-CMT, a study led by Dr. David Herrmann at the University of Rochester that is tracking how CMT1A changes over time.

Dr. Shy joined the CMTA Board of Directors in 1998. In 2009, he helped launch CMTA’s Strategy to Accelerate Research (CMTA-STAR). He now co-chairs its Clinical Expert Board, helping guide CMTA’s research strategy.

Steve Scherer, MD, PhD, professor emeritus of neurology at Penn Medicine and a longtime colleague of Shy’s, said, “I have known Mike since 1990, at the beginning of his interest in CMT. He has always been completely committed to finding the causes and the treatments for people with CMT. He is one of the fairest, kindest, and most thoughtful people I have ever known, and the success of the INC owes in large part to these admirable personal attributes. It has been my privilege to have been a part of his professional journey.”

Leading CMT into the treatment era

For nearly 20 years, Dr. Shy has led CMT clinical trials. His trials trace the field’s progress from early studies of ascorbic acid (vitamin C) to the current INSPIRE trial in CMT-SORD, the CMT-SYNAPSE study, and a gene therapy trial for CMT4J.

Before researchers can test a treatment, they need to understand how a disease progresses without it. Through the CMTA-INC, Dr. Shy is spearheading natural history and biomarker studies in CMT2A, CMT1X, CMT1B, and CMT2F, laying the groundwork for future clinical trials.

Alongside Robert Piper, PhD, he also leads a new CMTA-funded project to develop preclinical models that pinpoint the optimal time to intervene in CMT1A and CMT1E. The goal is to deliver future treatments when they are most likely to help.

“CMTA has been an important part of my life and work, and I am deeply honored to receive this award,” Dr. Shy said. “What has always made CMTA special is its commitment to people with CMT and its ability to bring patients, clinicians, and researchers together around a shared goal. We have accomplished so much together, and I am grateful for the friendships, collaborations, and trust we have built along the way. There is still much more to do, and I look forward to continuing that work together.”

About Charcot-Marie-Tooth Disease (CMT)

Charcot-Marie-Tooth disease is a group of rare, inheritable peripheral neuropathies. Named after Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth, who first described it in 1886, CMT causes progressive muscle weakness, loss of sensation, impaired balance, and other debilitating complications. There is currently no cure or approved treatment.

About the Charcot-Marie-Tooth Association (CMTA)

The Charcot-Marie-Tooth Association (CMTA) is the leading nonprofit organization dedicated to improving the lives of people living with Charcot-Marie-Tooth disease (CMT). As the largest philanthropic funder of CMT research, CMTA has invested more than $38 million since 2008 to accelerate research leading to new treatments and ultimately a cure. Through a strategic model that combines targeted funding, specialized scientific tools and resources, and strong patient partnership, CMTA drives promising science toward meaningful outcomes for people living with CMT.

Learn more: cmtausa.org

Kenny Raymond
Charcot-Marie-Tooth Association
+1 800-606-2682
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