Donation of Genetically Affected Embryos
For couples with a family history of a specific genetic disease, the option of IVF treatment with preimplantation genetic diagnosis (PGD) provides the opportunity to avoid the risk of passing on the disease to their children. Inherent in the process is the production of embryos which test positive for the genetic defect. Typically, these affected embryos are deemed “not suitable for implantation” and are discarded. Couples now have the opportunity to make a valuable contribution to our understanding of the disorder present in their families by donating these otherwise discarded embryos to human embryonic stem cell research.
The study of stem cells from an embryo carrying the genetic defect for disease allows us to understand how the development process goes wrong when the inherited coding for disease is present. Most single gene diseases are developmental, meaning their abnormal coding begins to manifest in the body at the earliest stages of development, in the womb. Due to the inherent risks, there previously was no way to directly study this most crucial stage of the disease process in humans. We’ve had to rely on animal model studies and what can be learned from the study of patients living with diagnosed disease. Until now. Disease-affected human embryonic stem cells open the door to human model studies of disease progression at the very earliest stages—in lab dishes instead of in patients.
This is a revolution in developmental biology. It is an opportunity for scientists to fill the knowledge gap between what we know about underlying genetic abnormality and full disease manifestation. In this previously hidden world of early human development, the groundbreaking answers to genetic disease will be found.