Next generation sequencing

The introduction of next generation sequencing (NGS) dramatically improved diagnostic success for mitochondrial diseases and moved investigative efforts from mitochondrial DNA to the nuclear genome. Consequently, NGS has enabled the identification of numerous new disease genes, thereby setting the ground to uncover pathophysiologic disease mechanisms and evaluate targeted therapeutic approaches. Since 2010, our group identified and validated more than 20 novel mitochondrial disorders. A powerful approach to confirm novel gene variant pathogenicity is the identification of several cases from different families with a similar phenotype. This approach needs a large sample collection from well-phenotyped patients which was reached by organizing a European network for mitochondrial disorders, the GENOMIT consortium. Finding the responsible genes and the mutations involved in a particular disorder also provides the opportunity for carrier testing, genetic counseling and avoidance of unneeded diagnostic investigations. In rare incidences, the discovery of a genetic defect even allows identification of a specific pharmacologic therapy with substances that are already available on the market.

Disease genes, pathways and treatment options discovered within the GENOMIT consortium. More than 30 genetic defects that affect numerous different pathways of the mitochondrial energy metabolism have been identified by GENOMIT partners through exome sequencing during the last 5 years. Most of these genes have been reported for the first time as cause of a human disease.

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