I study mutations that disrupt embryonic development in mice. When embryos die, I look at their defects and search for the genes that are responsible of those malformations. My studies are focused on defects that affect the embryos at their very early stages, when the embryos are just groups of cells that need to grow and reorganize to form an adult animal. I am interested in understanding how the embryo acquires its characteristic shape, a process called morphogenesis.
We know that three basic mechanisms mediate morphogenesis: cell growth, cell movements, and cell specification. How these mechanisms are coordinated to generate tissues and organs during embryogenesis is still a mystery.
Studying how cells form parts of the embryo can reveal many things. For example, during cancer, cells can metastasize, and that process is directly related to one of the morphogenetic events we study. In one of the very early development stages, some cells separate from the layer they form and migrate. These processes of delamination and migration are very similar to the ones that produce cancer later in the life of the individual. Studying the genes that regulate whether cells are able to detach from their neighbors and populate other locations can help us understand how to control metastasis.
It is well known that genes identified as markers for cancer play important roles in embryo development. This makes mouse development a useful model system. My research group wants to know how genes control embryonic development. What do they tell us about how an embryo develops? What would this knowledge tell us about how cells behave? What is the correlation to human disease—cancer, in particular?
Aside from its application in cancer, our research is also important for the prevention of human congenital malformations and miscarriage during pregnancy. All the mutations we study cause embryonic lethality, and therefore the genes involved likely cause embryonic death in humans, too. The embryonic defects that cause spontaneous abortions are very difficult to study in humans, since in most cases embryonic tissues are lost by the time women reach the clinic. Studying mouse embryos will allow us to identify those genes that are required for proper embryonic development in mammals. Knowing the genes that are important, we will be able to do genetic testing in parents and determine if they have a predisposition for an abnormal pregnancy or to carry babies with developmental defects and disease. This, which has been portrayed in science fiction movies, is starting to be a reality. Today, genetic testing is available for a myriad of human diseases. More knowledge about the genes important for embryonic development will translate into more tests and healthier babies.
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