CMT Australia Conference 2025

CMT Australia Conference is an annual event organized by the CMT Australia patient association. I was lucky to have been invited to the conference this year and to represent All Bodies Community, an online fitness platform for people with CMT and other mobility disabilities on 30 August 2025. As a certified personal trainer, I led an after-lunch online CMT-friendly chair stretching session. I also attended the other conference sessions and was happy to learn about the ongoing CMT research in Australia.

The Dark Genome

First, Prof. Marina Kennerson, who leads a neurogenetics research team at the University of Sydney, was presenting her work on discovering CMT-causing gene mutations. Importantly, globally, 30-40% of CMT families remain genetically unsolved. This means that they were diagnosed with CMT based on their medical history and diagnostic tests, such as nerve conduction velocity studies, but the available genetic tests did not reveal the disease-causing mutation. This also means that researchers have a long road ahead to discover all the CMT-causing mutations, which is needed to develop treatments.

Prof. Kennerson’s team’s approach is to look outside of the exome, the protein-coding part of the genome. Human DNA is composed of several regions, but only a small fraction of them encodes proteins (~2%), the functional units of our cells. The rest of the DNA is known as a non-coding part, which, among others, contains regulatory elements that control when and which genes should be turned on or off. Most diseases are caused by the mutations inside the exome, that’s why exome sequencing became a standard procedure for diagnosis. But if the disease-causing mutation cannot be found in the exome, it’s time to look in those regulatory elements.    

This became possible with a new technology, long-read next-generation sequencing. Prof. Kennerson’s team received a grant to buy a machine that can do this type of sequencing. They are now working with a clinical team to collect samples from people with CMT, sequence their DNA, and analyze those regulatory elements to, hopefully, find new CMT-causing mutations. Prof. Kennerson is calling it investigating “the dark genome” as there is still so much unknown.

In addition, Prof. Kennerson is creating a biobank of CMT patient cells. By collecting skin cells (fibroblasts) and transforming them into neurons, the researchers can then use them to model different types of CMT and develop therapies. It is worth mentioning that while neuron generation from skin cells in vitro is already a routine procedure, generating Schwann cells is still a challenge. Therefore, modeling axonal types of CMT is easier using this method. However, during my work at Kyoto University, I got to know researchers who successfully generated Schwann cells using iPSCs. So this problem is also being solved! 

At the end of her talk, Prof. Kennerson shared an inspiring story of her team discovering a new type of CMT, CMTX3, caused by a large inter-chromosomal insertion at the X chromosome from chromosome 8 (Brewer et al. 2016). This is called a structural genomic mutation (large rearrangements of DNA). This specific rearrangement leads to a reduced expression of the Sox3 gene. Sox3 is a transcription factor, i.e. a gene that regulates other genes. Therefore, the function of other genes might be impaired because of this mutation. This discovery was possible thanks to the whole-genome sequencing, highlighting once again that for genetically unresolved CMT cases, looking outside of the exome is indeed very useful.  

Sleep and Fatigue in Children with CMT

Next, Dr. Moya Vendeleur, a respiratory and sleep medicine paediatrician, and her colleague, Kathleen Whipp, introduced their study of sleep quality and fatigue quality in children with CMT.

Generally, 80% of children with neurodisability experience sleep problems, which also leads to impaired sleep in parents. In addition, fatigue is one of the most commonly reported CMT symptoms, but also one of the least understood symptoms. 

Hence, Dr. Moya Vendeleur and her team designed a study to assess sleep quality specifically in children with CMT. They are recruiting participants with CMT ≤ 18 years old. The study includes an on-site clinical assessment, Restless Leg Syndrome (RLS) questionnaire, CMT pediatric scale, questionnaires on fatigue, daytime sleepiness, quality of life (QoL), etc., and a sleep study setup for children with CMT to use at home.  

So far, the team has enrolled 18 children, 13.5 y.o. median age, with five CMT types. According to their analysis, 61.1% of the participants have significant sleep disturbance, including sleep apnea. The other key findings include low physical activity, poor QoL, excessive daytime sleepiness, and a high prevalence of RLS ( 22% vs 2-5% average for Australian children) among children with CMT. This is consistent with data reported in studies exploring sleep quality in adults with CMT (Boentert et al. 2010; Bellofatto et al. 2023).

I was curious if the setup used in the study might interfere with the quality of the children’s sleep. But Kathleen Whipp reassured me that if anything, the children actually report sleeping better with the setup on. I wonder if this is a weighted blanket-like effect. I haven’t tried sleeping with a weighted blanket on, but I definitely sleep better when I am hugged. Perhaps having some external pressure while sleeping is good for people with CMT?

CMT Aussie Kids

Dr. Peter & Jillian Critchley introduced a program called CMT Aussie Kids. It was established in 2012 as a CMT Australia program for youth affected by CMT. The main activity is an annual weekend for kids aged 10 and over, but it also includes day trips and meetups. Peter & Jillian shared some touching pictures and videos from the Aussie Kids Camp 2025 weekend, where the kids got to do mountain hiking, swing activities, and archery. The program has expanded to include "Big Kids" for older youth aged 18 and over, coordinated by Matilda Baehnisch and Eleanor Critchley. 

Annual camps for kids with CMT, known as Camp Footprint, are also organized in the USA. It’s good to know that different countries have CMT kid-friendly events like that, where they can meet other children with CMT and have fun together.   

Chair Exercise by Larissa and Larisa (me)!

Following the morning presentations, Larissa McKinnon, a dance teacher and a Victorian State Co-ordinator for CMT Australia, re-energized the conference participants with a chair dance routine. She skillfully demonstrated dance movements of different styles, such as ballet and jazz, and really got everybody moving to the music. Being a ballet fan myself, I particularly enjoyed the piece from The Nutcracker, and yes, you don’t need to jump or even stand to enjoy the magic of dancing!

Following lunch, I led a chair stretch session. I didn’t want to get the participants too physically active right after a meal, and so a gentle stretch to relax the muscles tightened up from all the sitting seemed like a good choice. 

     Genetic Counseling and Family Planning

The afternoon sessions included a presentation by Dr. Matt Burgess, a genetic counsellor and podcaster, and Dr. Nicole Sides, a gynaecologist/obstetrician specializing in fertility management.   

Dr. Burgess discussed various genetic testing approaches, including single-gene testing, multiple-gene panels, whole-exome sequencing, and genome sequencing. He also talked about the advantages and disadvantages of genetic testing for CMT. Even though knowing the genetic cause of one’s CMT will not change the treatment approaches (there is no drug approved for any CMT type yet), it is useful for family planning, especially if a couple wants to avoid passing on the disease to their children. There are many other benefits of being genetically tested. If the mutation is found, it confirms the diagnosis, enables you to participate in clinical trials for your CMT type, helps with prognosis, and informs you if a symptom you’re experiencing is CMT-related or not. 

Check out Dr. Burgess’s podcast, Demystifying Genetics, on Spotify or Apple Podcasts, to learn more about the genetics of CMT.

Dr. Sides then gave an in-depth overview of IVF (in vitro fertilisation), an assisted reproductive technology, which, when combined with PGT-M (preimplantation genetic testing for monogenic disorders), can ensure the CMT-causing mutation is not passed on to a child from a parent with CMT. The main take-home message Dr. Sides was trying to convey was that if one decides to go through IVF, it should be done as early in life as possible. The probability of the procedure's success decreases dramatically with a woman’s age.    

For women under 35, a single IVF cycle yields on average 10-20 eggs. Due to natural attrition during the fertilization and development process, this typically results in 2-5 viable embryos available for transfer.

For women older than 40, these numbers are significantly lower, with an average of 4-10 eggs retrieved, often resulting in only 0-2 viable embryos available for transfer.

For individuals with an autosomal-dominant condition like most types of CMT, the pool of transferable embryos is further reduced. On average, 50% of the embryos created will carry the genetic mutation. Therefore, after genetic testing, the final number of healthy, unaffected embryos available for transfer is typically reduced by half.

It doesn’t mean it’s impossible. I personally know several families that have CMT-free children thanks to the IVF PGT-M. But if you choose this route, it’s important to know your chances and plan accordingly. 

Several other presentations followed Dr. Sides’s informative talk, but, unfortunately, I had to leave and missed those. I am grateful to the organizers for inviting All Bodies Community to present at the conference. The positive impact of exercise was a recurring theme, notably in the session covering sleep and CMT. One study showed that 8 weeks of stretching, strengthening and balance exercises, 3 times/week, improved subjective sleep quality and nocturnal cramps in people with CMT (Souza et al. 2022). Check out my CMT-friendly workout library or schedule a free consultation with Julie Stone to start exercising with us today!