9/29/2007: CMTA Hosts Second International CMT Consortium Meeting

More than 100 of the world's top scientists attended the Second International CMT Consortium Meeting in Snowbird, Utah (Click image to enlarge.)

by Pat Dreibelbis, CMTA Director of Program Services

From July 18, 2007, through July 20, 2007, one hundred and twenty-one of the world’s finest researchers and clinicians gathered in Snowbird, Utah, to share their findings and to discuss the CMT research that is on-going throughout the world. It was a collaboration of the largest number of participants that the consortium has ever had. One of the reasons for the spectacular turnout was the fact that the consortium piggy-backed its meeting onto the Peripheral Nerve Society meeting which directly preceded it.

The meeting was begun by an introductory welcome from Dr. Michael Shy who had organized the scientists and their presentations. Without his work, the meeting could not have happened and without his choice of speakers and posters, it could not have been as well-organized or as informative as it was. Following his opening remarks, the first session was centered on the topic of new loci and genes that have been found to cause CMT. The majority of the discoveries involved autosomal recessive forms.

On the second day of the meeting, Klaus-Armin Nave, Director of the Department of Neurogenetics, the Max Planck Institute, Goettigen, Germany, presented the Ann Lee Beyer Plenary Lecture on “Axon-glia interactions and demyelinating diseases.” (The plenary address is named for former Board member and Chairman of the CMTA, Ann Lee Beyer, who fought tirelessly to bring researchers together to work for the common goal of finding a cure for CMT.)

The rest of the morning was given over to researchers who were working on the cell biology of CMT. After lunch, researchers spoke on their discovery of unusual phenotypes and genotypes of CMT. Professor Garth Nicholson, Australia, posed the question of why the hereditary neuropathies are classified in such a confusing manner. He finds the continuing use of letters and numbers to be unnecessarily complex and would like to see the disorders classified with words such as axonal hereditary neuropathy whose defect is on chromosome 1. His presentation sparked considerable debate.

After a coffee break, the presentations returned to a look at cell biology. One presentation was entitled “Role of the P2X7 receptor in the altered calcium homeostasis of Schwann cells overexpressing peripheral myelin protein 22.” Needless to say, as a non-scientist, this was a particularly difficult session to understand.

Poster sessions followed on each day and offered participants the chance to question some of the younger researchers about their studies. Some wonderful conversations were sparked by the posters, including one involving Kate Gardner from the North American CMT Database, a gentleman from the Czech Republic and myself. He had some excellent ideas about how to improve participation by our CMTA membership in the database endeavor.

Friday was a great day for the representatives from the CMTA because one of the sessions was called “Diagnostic tools and clinical scoring for CMT” and the last session was entitled, “Treatment for CMT.” Presenters discussed such important topics as how CMT patients use proximal (in this case, knees and hips) compensation to make up for distal(foot and ankle) weakness and how this affects walking endurance and how CMT can impact on the quality of life for children. There were also discussions regarding the ascorbic acid trials in the European countries and the effects of certain orthopaedic surgeries in treating peroneal weakness. The surgeon pointed out that the most important outcome of foot surgery is the correct positioning of the heel of the foot.

All in all, the three days of presentations were amazing, inspiring, intense, and very productive. Having attended a previous North American Consortium meeting, I was somewhat prepared for the magnitude of the science being advanced but was, once again, impressed with the brilliance and the commitment of the scientists and clinicians who not only care about the research on CMT, but also care, quite deeply, about the patients who deal with the disorder every day. As a CMT community, we should be grateful that such wonderful individuals are working on “our” disorder.