Researchers from Radboudumc, Maastricht UMC + and international colleagues have for the first time gained a good insight into the ‘hidden genetic defects’ of the general European population. This is important because these defects, if they occur in both father and mother, can lead to all kinds of diseases in their children. This is reported by Radboudumc.
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Every person gets half of their genes from the mother, the other half from the father. So you have two copies of each gene. Sometimes one of those two copies is defective, without making you sick because the other gene is still working properly. This is called a hidden genetic defect. Such a defect can unexpectedly cause problems if a child gets the same hidden defect from both the father and mother. Both parents are healthy and have never suffered from the hidden genetic defect. But now that these two hidden genetic defects of father and mother come together in the child, the disease is suddenly coming to light.
View of hidden defects
How often such hidden genetic defects occur in the general population has so far been unclear. Researchers from Radboudumc and Maastricht UMC + have now obtained a good insight into how often such hidden defects are present that can lead to disease by screening all the genes of nearly 6,500 people in the Dutch and Estonian population. Christian Gilissen, researcher at Radboudumc: “Every human being appears to have on average 2 to 4 such hidden genetic defects. If you calculate that further, the chance that a European couple could have a sick child due to two such defects is about 1 percent. “
Higher risk with consanguinity
In addition to this research, research was also conducted in the hospital’s clinical practice under the leadership of Maastricht UMC +, together with Radboudumc and Amsterdam UMC. This study focused on the question of the risk of hidden genetic defects in cousin relationships prior to a desired pregnancy. Laboratory Specialist Clinical Genetics Aimee Paulussen of Maastricht UMC +: “We mapped the risk of 100 couples and saw that about 20 percent of these couples have an increased risk of serious disorders in their offspring.”
Meaningful test
Professor Han Brunner, head of both the Department of Clinical Genetics in Maastricht and the Department of Genetics in Nijmegen, is involved in both studies. He sees them as a clear incentive to make genetic testing available to couples with a possible increased risk of such hidden genetic defects: “Certainly for these couples, this information can help them to make an informed decision when they want to have children. They can consider pre-implantation diagnostics and then possibly opt for IVF with embryos without these defects. ”
By: Nationale Zorggids
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