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 failure. Marie Norris will discuss her preliminary data which suggests that lipotoxicity, largely mediated by the accumulation of ceramides, is a major contributor to VLCADD-induced heart failure. Ms. Norris will discuss the role of ceramides, while addressing the mounting evidence that elevated ceramides contribute to heart failure in humans/rodents and that cardiac function improves with ceramide depletion.
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...
A conversation with the public policy team for the National Organization for Rare Disorders (NORD). Topics of discussion will include: Current federal and state...
There is unprecedented momentum in the mitochondrial disease clinical trial landscape, and the patient community plays a vital role in ensuring these trials have...
