Joint Transnational Call 2023 (JTC2023)

GENOMIT: Understanding variation in natural history of mitochondrial diseases by AI integration of pharmacology, environment, genomics, lifestyle and clinical and patient-reported outcomes

Mitochondrial disorders (MDs) are a genetically diverse group of individually rare, but severe diseases for which no causal treatments are available. The GENOMIT consortium assembles the national networks from Germany/Austria, Italy, Spain, Japan, UK and the main centers for MD in Hungary and Luxembourg, collectively building the global registry and following > 9,000 patients with 500 novel cases annually. GENOMIT acts in close collaboration with international patient organizations to improve the diagnosis and care of MD patients. 
GENOMIT will advance natural history studies to prepare for clinical trials by 
i) continuous recording of digital phenotypes, increasing patient numbers, integrating PROMs and phenotype-specific rating scales in time series
ii) advancing genetic biomarkers in monogenic conditions and beyond
iii) leveraging on metabolic profiles as biomarker 
iv) capture and integrate environmental factors from plasma metabolomics
v) apply machine learning for diagnostics, patient stratification and improved prediction of individual prognosis

GENOMIT partners are established national hubs for molecular diagnosis and state-of-the-art care for patients with MD. This collaboration led to a global registry and the largest collection of multi-omics data pertaining to MDs worldwide. We incorporate groups with unique expertise in genetics, clinical management and computational science who developed AI models for omics-empowered diagnostics. GENOMIT will improve understanding of variation in the natural history of MDs by AI integration of therapeutic history, environmental exposure, genomics, lifestyle, clinical information, and PROMs and will be an invaluable resource for patient care and future clinical trials. 

  • Prokisch (Coordinator) [GERMANY]
  • Mancuso [ITALY]
  • Schymanski [LUXEMBOURG]
  • Molnar [HUNGARY]
  • Bellusci [SPAIN]
  • Klopstock [GERMANY]
  • Lamperti [ITALY]