Prof. dr. Christine de Die-Smulders clinical geneticist Assume for a moment that you want children, but you are aware you are genetically predisposed to a severe illness such as Huntington’s disease. Of course, you will want to avoid your children being affected by such illnesses in later life, so you are faced with a dilemma. Preimplantation genetic diagnosis, or PGD, could provide a solution. Ever since 1995, Maastricht UMC+ has been the only medical centre in the Netherlands that screens embryos to detect the presence of hereditary disorders. This has generated a wealth of highly-specific expertise. By working together with three other UMCs under the PGD Netherlands umbrella, we are able to open up this innovative technology to prospective parents nationwide. Genetics is a rapidly developing field: through scientific research, we are gaining ever more knowledge about the fundamental building blocks of life, such as the embryonic development process or the genetic information packed into just a single cell. With this knowledge, we have been able to develop new tests for a variety of disorders, from hereditary breast cancer to cystic fibrosis. One of the questions we are trying to answer is when best to take a cell from an embryo to screen it for hereditary disorders. Before a healthy embryo can be implanted in the mother’s womb, it has to pass through our laboratories. An IVF procedure is needed as part of this journey — and that is another area in which we are gaining more and more insights. It goes without saying that we want to maximise the chance of a healthy pregnancy. As part of this, we are trying to find out what effect the culture medium in which the embryo grows has on the embryo. Additionally we want to know what long-term effects IVF and PGD may have on a child. As we speak, the whole process from genetic diagnostics to healthy pregnancies has already resulted in more than 500 healthy babies and 1,000 happy mothers and fathers. On the job
Circles_of_innovations_ENG
To see the actual publication please follow the link above