Latest Episodes
Expert Series: Immune Cell Function in Mitochondrial Disease
Immune dysfunction is increasingly appreciated in mitochondrial disorders. Join Dr. Melissa Walker to review the small number of known immune manifestations of specific primary...
Extensive DNA Sequencing in Cyclic Vomiting and Chronic Fatigue: Implication for Genetic Testing and Personalized Treatment Options
In May 2023, Dr. Boles and his research group published a scientific paper on the results of 50 people that had either whole exome...
Expert Series: Rhabdo Roundtable for teens and adults with FAODs.
Expert Series: At the crossroad of mitochondrial disease and mitochondrial dysfunction
Why are patients with Fibromyalgia, Chronic Fatigue, Lymes diagnosed with mitochondrial disease? How do I know I have Mito? What should my doctor look...
Expert Series: Ceramides: The Unmasked Drivers of VLCADD-Induced Heart Failure
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...
Expert Series: Expanded Access and Compassionate Use of Experimental Therapies
“Expanded Access” and “Compassionate Use” are terms that are utilized in our rare disease community, but what do they mean? How do patients learn...