The genome we obtain at fertilization determines much of our health as adults.
This is why it makes sense to consider how to prevent heritable conditions and prevent the transmission of disease-causing mutations.
Genome instability in human development
Genome instability is a fundamental impediment to early human development and a cause for mutations. We are trying to understand and correct these abnormalities.
We are conducting mitochondrial replacement in human eggs.
This method is designed to prevent disease causing mitochondria to be passed on to the child.
Mutant mitochondria are transmitted from mother to child for generations, and can cause severe disorders that can be lethal. The replacement of these mitochondria in the egg should result in a healthy child. The treatment is also called 'mitochondrial donation'.
The schematic on the right shows the transfer of the nuclear genome from one egg to the other. The red and blue dots are the mitochondria. The images below show the actual transfer. The removal of the genome is done using a special microscope that can visualize the spindle-chromosome complex (white arrow). PN=pronucleus, PB= polar body.
Using this method, the exchange of mitochondrial DNA can be complete.
In research published thus far, we conducted pre-clinical research. Mitochondrial replacement stem cells are being made to develop and optimize techniques for the replacement of mutant mitochondria.