Expert Series: Primary Mitochondrial Disease Evaluations: The evolving role of muscle biopsy
December 12 @ 12:00 pm – 1:00 pm EST
Genetic testing and muscle biopsies are important tools in diagnosing mitochondrial disease, but sometimes it can be confusing how and when they are used. This presentation will seek to bring clarity around how these two different testing options are used, why clinics may choose to use one testing option over another, what information they can/cannot tell us, and how clinics use these options to determine a diagnosis of mitochondrial disease.
About the Speaker
James Peterson, MS, LCGC
Jamie Peterson has been a clinical genetic counselor in the Mitochondrial Medicine Frontier Program (MMFP) at the Children’s Hospital of Philadelphia since 2018. He leads and coordinates the MMFP’s GC trainee clinical rotation schedule and has also been a biocurator for ClinGen Primary Mitochondrial Disease Gene Curation Expert Panel since 2021. His research interests lie in improving diagnostic testing options in primary mitochondrial disease and streamlining the diagnostic testing process.
