As a follow-up discussion to Dr. Fran Kendall's presentation on "Muscle Biopsy Testing for Mitochondrial Disease", MitoAction welcomes Dr. Steve Sommer of MEDomics to discuss testing for mitochondrial disease using a blood sample.
After 23 years in academia, Dr. Steve Sommer started MEDomics in order to apply a revolutionary technology called "NextGen sequencing" to clinical mitochondrial medicine. (www.medomics.com)
MEDomics sequences the entire mitochondrial DNA genome thousands of times. That sometimes allows the diagnosis of mitochondrial disease to be made with a blood sample rather than with painful muscle biopsies. MitoDx is a test of unprecedented power for diagnosing mitochondrial genome disease, which is roughly "half the elephant" of mitochondrial disease.
There are so many misunderstandings and misconceptions of genetic testing. Dave will attempt to clarify these issues, and provide tools to empower patients to...
Despite advances in newborn screening and treatment of fatty acid oxidation disorders, patients with very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) continue to suffer from heart...
Dr. Douglas Wallace, the Director of The Center for Mitochondrial and Epigenomic Medicine at Children’s Hospital of Philadelphia (CHOP) presents on Mitochondrial Genetics and...