This presentation will focus on the diseases that disrupt the normal process of copying our mitochondrial DNA. Dr. Copeland will summarize the genes (POLG, POLG2, TWNK, and SSBP1) that are involved in copying our mitochondrial DNA and how they participate in preventing or causing mutations in mitochondrial DNA. Then he will focus on the diseases caused by mutations in these genes and the consequences of these mutations on mitochondrial function and health.
Join Dr. McCormack and Dr. Guzman as they review and discuss the causes of high and low blood sugars in mitochondrial disease, while also...
When a genetic variant is shared by only a handful of individuals worldwide, what does it mean for diagnosis, treatment, and research? In this...
Update by Cristy Balcells about ways to get involved and spread awareness.
