Biomarkers in CMT2A patients

A new research project is underway, supported by our association and carried out by the team of Professor Stefania Corti of the Dino Ferrari Centre/University of Milan (Doctors Rizzo, Abati and Anastasia).

The project aims to detect in the blood of patients with CMT2A (or other pathologies due to mutation of Mitophusin 2) the presence of possible biomarkers of disease that may be useful to diagnose and/or control the development of pathology.

Biomarkers are substances in the blood of patients working as signals of the disease’s presence. They are very important for diagnosis and also to control the pathology’s development. They have not yet been investigated for CMT2A, and this is the first study doing so.

If you want more information about the research project click below 👇

Interview with Professor Comi, Director of the “Dino Ferrari Centre”

🎙️On the occasion of Rare Disease Day, which was celebrated on 29 February (“a day of a leap year, rare as the diseases we are talking about”), Professor Comi, Director of the “Dino Ferrari Centre” gave an interesting interview about rare diseases (likeCMT2A) which is, to us, like a ray of sunshine warming our hearts and giving us hope. In the interview , indeed, Professor says diseases are “rare” only when we consider them individually, because all together they represent a large field of research where science is making huge progress and “where serious paths of therapy have been finally glimpsed ” (‼️).
👇We have transcribed for you an excerpt from the interview. It is worth reading.


Neuromuscular Diseases’ Day: GMN 2024

The Seventh Day of Neuromuscular Diseases – GMN 2024- will be held on April 13, 2024.

The event will take place simultaneously in 19 Italian cities linked to the most important centers for the study of neuromuscular diseases: Ancona, Bari, Bologna, Brescia, Cagliari, Chieti, Genoa, Messina, Milan, Naples, Palermo, Parma, Pisa, Rome, Siena, Turin, Trento, Udine, Verona.

The. Day is a project created and supported by ASNP (Italian Association for the Study of the Peripheral Nervous System) and AIM (Italian Association of Myology), together with patients and families’ associations.

The purpose

It is an important event where topics of interest to all will be discussed both with patients and neurologists, physiatrists, pediatricians, general practitioners, child neuropsychiatrists, physiotherapists, biologists, geneticists, nurses, psychologists, experts in public disability management.


Neurologists, physiatrists, general practitioners, family paediatricians and paediatricians, child neuropsychiatrists, physiotherapists, biologists, geneticists, nurses, psychologists, caregivers and all those who, every day, are dealing with the global management of patients with Neuromuscular Diseases.

For more info about GMN 2024


Rare Disease Day 2024

The countdown to celebrate Rare Disease Day 2024 has begun.

Patient organizations around the world have already scheduled many events and many more are about to.

Common goal? Raising public awareness and generating change for the 300 million people around the world living with a rare disease (such as CMT2A), for their families and caregivers.

Look for the one closest to you and become a protagonist of this revolution!


CM2A: identification of a potential therapeutic approach

Before the end of the year, a very important news was given to you: the scientific journal “Cellular and Molecular Life Sciences” published the study carried out by Dr Rizzo together with the team directed by Prof.ssa Corti of the Dino Ferrari Centre/University of Milan.

Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot-Marie-Tooth type 2A

That is a very important work for the search of the cure for Charcot Marie Tooth type 2A and the fact that it was published by one of the most authoritative scientific journals is a great news for us, because in this study is proven that the type of treatment (researched by our scientific project) can be achievable.

Look at Our Research Project section to learn more 👇🏼

CMT2A: a new big step towards the treatment

Let’s close the year with some great news.

The study carried out by Dr Rizzo, with the team directed by Prof.ssa Corti of the Dino Ferrari Centre/University of Milan, has been published in the journal Cellular and Molecular Life Science.

That scientific study represents an important advance for our research project, a great step that brings us closer and closer to the treatment.

The best Christmas gift ever!!

If you want to deepen 👇

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