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.
How can you prepare your child for independence? Transition to independence is challenging and important for all kids, but helping your child make good...
Talking points include: What is the immune system and why is it important? Infection and mitochondrial disease Immune function in mitochondrial disease About The...
In May 2023, Dr. Boles and his research group published a scientific paper on the results of 50 people that had either whole exome...