WP 3: Assays for functional validation of MD genes
Characterization of variants of uncertain significance is the main limitation of genetic diagnostics by NGS. Mitochondrial Diseases (MDs) are the most heterogeneous group of metabolic diseases with hundreds of involved reactions making conformational tests challenging. Omics-Analysis usually give partial evidence about the effects of the identified variants, but often confirmation is required by targeted assays in either patient samples or model systems.
To close this gap tRNA-sequencing as new diagnostic tool and specific enzyme assays will be developed. Furthermore, complementation studies in models for novel MDs and integration of functional data into existing GENOMIT bioinformatic tools will be performed.
This work package is lead and coordinated by Salzburger Landeskliniken (SALK, Austria) and the Institute Imagine INSERM (Imagine, Paris, France). The cooperation partners are all those of WP2.
This work was performed on behalf of the GENOMIT Consortium and funded under the E-Rare Programm 2015 and the European Joint Programmes on Rare Diseases (EJP RD) 2020 and 2023
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