The Human Genome and Stem Cell Research Center (HUG-CELL) in Brazil will begin recruiting participants within weeks for a project called "Our Genes," which screens couples planning to have children for genetic variants that could be passed to a child. The focus is on recessive disorders - conditions that appear only when a child inherits two altered copies of the same gene, one from each parent - along with Fragile X syndrome, a leading inherited cause of intellectual disability.
Michel Satya Naslavsky, a researcher at HUG-CELL, presented the initiative at FAPESP Week London. HUG-CELL is a FAPESP Research, Innovation, and Dissemination Center based at the Institute of Biosciences of the University of Sao Paulo, and the work is being carried out with the University of Brasilia, the Federal University of Bahia, the Federal University of Espirito Santo, and other collaborators. Participation is voluntary. When both partners are found to carry pathogenic variants in the same gene - a 25% chance of conceiving an affected child - they are told during genetic counseling rather than simply handed a report.
The second goal is arguably the larger one: building a genetic database that reflects Brazil's population. Researchers want to establish how common hereditary diseases actually are there and to develop "risk calculators" that combine many small DNA variations to estimate a person's likelihood of developing common conditions such as diabetes, high blood pressure, and heart disease.
That matters because most existing genetic risk research draws on data from people of European ancestry, which does not capture the genetic diversity of Brazilians. Risk scores built on one population often translate poorly to another, so tools calibrated on local data stand a better chance of being accurate for the people who will use them - a limitation that affects genetic prediction for a wide range of diseases, not just the reproductive risks the screening program is designed to catch.