There are couples who use assisted reproduction centers their risk of having offspring affected by aserious hereditary disease .
The human genome is like a library of different books (chromosomes) and these books turn by pages full of information (genes). A poorly structured sentence on a page can lead to changes in the interpretation of the book and that is exactly what happens in monkey disease gene : alteration of a gene results in altered biological processes and, consequently, to a disease.
Each individual inherits two copies of each gene, one from the father and one from the mother. The probability of having a child affected will depend on the type of disease and hereditary behavior of this. In the case of single gene diseases, there are two types of inheritance: dominant and recessive.
In the dominant (eg, Huntington's disease, osteogenesis imperfecta, ...), and being a single parent affect the probability of having a child affected is 50%.
In the recessive (eg, cystic fibrosis, Duchenne muscular dystrophy, sickle Falconi, ...), and still the two carriers, the probability of having an affected child is 25%.
Thanks to the techniques of IVF and preimplantation genetic diagnosis (PGD) carrier couples or affected by monogenic disease have the opportunity to have children free of disease.
According to Law 14/2006 on assisted human reproduction techniques PGD is a technique that can be used for " the detection of serious hereditary diseases, early onset and postnatal amenable to curative treatment according to current scientific knowledge, to to carry out the selection embryonic pre-embryos for transfer not affected. " That means you can only do PGD and selection of healthy embryos for serious diseases that currently have no cure.
The couple should be given genetic counseling and make a study of informativeness for a correct diagnosis of the embryos. Then, the couple must undergo in vitro fertilization treatment. Embryos to study a cell needs to be removed from each well and analyzing this genetic content. After analyzing the cells, healthy embryos are selected for later use, either transfer to the uterus of the mother or freezing.
From the first pregnancy in Spain in 1994 after PGD, many couples who have benefited from this technique. In August 2008 the first child born in our free country Osteogenesis Imperfecta - disease known as "brittle bone" - thanks to CREA work in collaboration with the genetics research center Genome Systems.
