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BMBF-Network mitoNET: German Network for Mitochondrial Diseases

  • Speaker : Prof. Dr. Thomas Klopstock
  • Affiliation :Friedrich Baur Institute, Department of Neurology
  • Funding by BMBF: 2019 to 2022

Mitochondrial diseases are a heterogeneous group of diseases characterised by malfunctions of the mitochondria. The main function of mitochondria is to supply energy to the cell, but they also have a number of other important tasks. In principle, mitochondrial disease can affect any organ at any age and with any degree of severity. This results in thousands of possible symptom constellations that make diagnosis considerably more difficult. Despite the great progress made in elucidating the molecular mechanisms, there is still no causal therapy for mitochondrial diseases.

The mitoNET as an expert network has existed for ten years and was already funded by the BMBF from 2009 to 2015 as part of the "translation-oriented collaborative projects in the field of rare diseases". The mitoNET clinical network currently comprises twelve neurological clinics and sixteen paediatric clinics. The collaboration has made it possible to build up a patient register with over 1,500 patients as well as biobanks with already over 7,500 samples. In addition, more than 40 new genes have already been identified.

The high demand for research into the causal genetic defects of mitochondriopathies is being addressed within the framework of several interlinked mitoNET projects. The focus of the scientific work is primarily on the development of improved and faster diagnostic procedures for mitochondrial diseases and on new treatment approaches. In addition, a further expansion of the network is taking place in the environment of the research association. The existing biobanks and the large patient register are to be linked globally for better cooperation. To this end, mitoNET is active in the E-RARE 3 project GENOMIT.

Quelle: mitoNET, research4rare