Pre-Implantation Genetic Diagnosis
We see both child and adult patients for diagnosis and management of mitochondrial disease as the Oxford arm of the NHS funded Rare Mitochondrial Disorders Service for adults and children (NCG). We are studying the unique transmission genetics of mtDNA and are now developing pre-implantation genetic diagnosis for heteroplasmic mtDNA disease, with a current HFEA application for 3243, 8344 and 8993 mutations. For Pre-implantation Genetic Diagnosis for mitochondrial DNA disease, the embryo (B) is held still by with a pipette (A). A single cell is aspirated into a sampling pipette (C) from the embryo and assessed for mutant mtDNA. Embryos with low or undetectable mutant mtDNA content are selected for implantation in the uterus (Poulton J, Kennedy S, Oakeshott P, Wells D. Preventing transmission of maternally inherited mitochondrial DNA diseases. British Medical Journal. 2009; 338:345-9)
