A team of researchers in the Mitochondrial Medicine Frontier Program at Children’s Hospital of Philadelphia (CHOP) led an international effort to standardize how variants in mitochondrial DNA (mtDNA) are interpreted, detailing the unique aspects of the mtDNA genome and outlining when specific variants may cause medical problems when detected in a patient. Their work was published this month in the journal Human Mutation.

Marni Falk, MD

“This work represents the culmination of several years of collaboration by global leaders in mtDNA genomics and disease, all aimed at improving the ability of labs and clinicians around the world to more accurately diagnose patients with mtDNA-based mitochondrial disease,” said Marni Falk, MD, Professor and Executive Director of the Mitochondrial Medicine Frontier Program at CHOP and senior author of this study.

Marni Falk, MD:

“To address this ongoing issue, an international working group of mtDNA experts was assembled within the Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium. The research team obtained Expert Panel status from ClinGen, a central resource funded by the National Institutes of Health (NIH) to define the clinical relevance of genes and variants reported in the literature and in the centralized NIH ClinVar database, and clarify their applications in precision medicine and research.”