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Our Genes Study will analyze the DNA of Brazilian couples before pregnancy and map mutations linked to recessive hereditary diseases.
A national project coordinated by the University of São Paulo aims to monitor up to 5,000 Brazilian couples planning to have children in the coming years.
The initiative, called Our Genes, is linked to the Center for Human Genome Studies and Advanced Therapies at USP.
The goal is to identify genetic variants associated with recessive hereditary diseases before conception.
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With this analysis, researchers want to assess whether volunteer couples have a higher chance of having a child at risk of developing hereditary genetic diseases.
Project offers free genetic screening for Brazilian couples
The study offers free genetic screening to participants from different regions of the country.
The main focus is on couples served by the public health system.
The proposal includes DNA tests, consultations, and specialized counseling to interpret reproductive risks.
According to the University of São Paulo and the FAPESP Agency, the project also aims to gather data for future public health strategies.
This information could support policies aimed at family planning and the prevention of genetic diseases.
How the Our Genes project works
Participation begins with registration on an online platform.
After that, couples answer a questionnaire to assess eligibility criteria.
In the next stage, those approved proceed to in-person appointments, where blood is collected for genetic analysis.
In-person appointments are scheduled in four Brazilian cities: São Paulo, Salvador, Vitória, and Brasília.
The target audience includes couples who wish to conceive naturally.
Participants must be of reproductive age, live in Brazil, and be affiliated with the public health system.
It is also necessary not to have children or have, at most, one child.
Who cannot participate in the study
The project has defined exclusion criteria to maintain the scientific design of the research.
Pregnant women cannot participate in the initiative.
Couples undergoing fertility treatment are also excluded from the study.
People who have had children diagnosed with a recessive genetic disease cannot participate.
These rules help organize the analysis of collected data and maintain the focus of the research.
Genetic analysis investigates hundreds of genes
Laboratory analyses investigate hundreds of genes linked to recessive monogenic diseases.
The study also evaluates changes related to Fragile X syndrome.
After the technical stage, the results are presented in a consultation with specialists.
At this moment, professionals explain the findings and possible implications for future pregnancies.
According to researchers involved in the project, recessive inheritance can pose a risk when both partners carry alterations in the same gene.
This combination increases the probability of transmitting certain diseases to the children.
Monitoring is expected to last years
The monitoring of couples extends over years.
With this process, researchers aim to observe how genetic knowledge influences reproductive decisions.
The study also seeks to understand what impacts this type of information can generate in the healthcare system.
Although it expands access to information, the test does not completely eliminate the risk of genetic diseases.
The screening does not cover all possible conditions.
New mutations and multifactorial factors may also not appear in the analysis.
What are recessive genetic diseases?
Recessive genetic diseases are linked to alterations in DNA that can remain silent throughout life.
In many cases, a person carries a genetic variant without showing symptoms or clinical signs.
For this reason, these alterations may go unnoticed until specific reproductive situations.
The risk becomes relevant when two people carry alterations in the same gene.
In this condition, the baby can inherit two altered copies and manifest the disease associated with that gene.
When only one copy is inherited, the child does not develop the condition.
Even so, they may become a carrier of the genetic variant.
Why the study draws attention
This type of inheritance explains why some diseases appear only in certain children or specific generations.
Even so, different mutations in each partner do not always represent a direct risk.
The problem occurs when both share an alteration linked to the same gene.
The Nossos Genes project seeks to anticipate important information before pregnancy.
The initiative avoids promising absolute diagnosis or guarantee of health for future children.
The central proposal is to offer genetic information, specialized guidance, and data capable of strengthening family planning in Brazil.
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