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.
Understanding the mechanisms of mitochondrial deafness Join us this month with Dr. Peter Kullar, Clinical Research Fellow at the Wellcome Trust Research Centre for...
The underlying cause of LCHADD retinopathy is not fully understood. This presentation will look at the research that identifies the cell in the eye...
Join us this month with Dr. Fran Kendall from Emory University Department of Human Genetics as we dig deeper into confusion surrounding two components...