Progetto Mitofusina

OBJECTIVES

According to recent studies, the proportion of patients affected by hereditary neuropathy caused by Mitofusin 2 mutation (CMT2A) should be around 20% of all cases of Charcot-Marie-Tooth disease type 2. In figures, this would be some thousands patients in Europe and the USA.

However, diagnosed cases number just a handful (a few dozen in Italy, maybe). Patients do not have a reference network to connect with, and there is no national register of such patients.
We think it is vital for these patients to raise awareness of the disease to a wider public, as well as driving the scientific community’s attention to the issue. We are committed to our objectives by supporting and promoting scientific research.

Objective no. 1

To meet, know and connect patients affected by this pathology worldwide. Creating a support network is vital to share information about the disease, to help solve patients' problems and to support those who are still struggling to get a diagnosis.

Objective no. 2

To bridge patients and scientific research in order to finally get a cure for this disease. This website aims to become a solid reference source to all scientists interested in the study of MITOFUSIN 2 (MFN2).

Objective no. 3

To provide links to the latest and most relevant publications, as well as contact details of the most influential researchers and research centres.

Objective no. 4

To create and update a reference SCIENTIFIC DATABASE about latest developments in the research field and categorisation of disease-related mutations. This database would be maintained by scientific and medical professionals.

Objective no. 5

To promote and support the creation of groups, associations and scientific medical projects aimed at the studying and search for a cure to CMT2A2: to organise, support and promote events, meetings, and conferences aimed at raising awareness and promoting the exchange of information about the pathology.