11/26/2025 | Tatiana Branco | Medicine S/A

https://medicinasa.com.br/pesquisas-doencas-raras/ 

Recognized as conditions that affect 1 in every 2,000 individuals, these rare gifts are currently more than 7 thousand types known and impact more than 300 million people worldwide. In Brazil, around 13 million people live together with some rare goods, which corresponds to 5% of Brazilians.

This expressive number faces the country as an increasingly relevant actor in the international census of research on the topic. Along with the population dimension, government initiatives, advances in genomic science and participation in international clinical protocols consolidate Brazil as a strategic pole in the search for innovative solutions.

The creation of the National Comprehensive Care Policy for People with Rare Doenças, in 2014, marked a water divider. Since then, 17 SUS Reference Centers have been enabled, dedicated to diagnosis and treatment. The network, even though it is uneven between regions, represents progress in the direction of more structured and specialized attention. In parallel, the National Network of Rare Diseases (RARAS) launched the Brazilian Atlas Online, which already brings together almost 20 thousand clinical and epidemiological records, covering more than 2,300 diseases. These are one of the most open-ended initiatives in Latin America.

There are still two big challenges in terms of time tied to diagnostic confirmation. A recent study showed that a Brazilian patient takes, on average, 5.4 years to discover precisely what is happening — a long wait often marked by suffering. Cases such as phenylketonuria and cystic fibrosis are likely to be included in neonatal triage, which demonstrates the importance of expanding preventive policies and support networks.

The field of clinical research, or the country, stands out in multi-centre trials, with hospitals such as the Porto Alegre Clinics integrating international protocols and acting as a Collaborating Center of the World Health Organization. This protagonism reflects the capacity to produce early science, aligned with what is more advanced globally.

A bet on genomics also projects Brazil for the future. The Brazilian Genomes Program, launched in 2020, aims to sequence 100 thousand complete genomes of Brazilians, including people with rare gifts. The investment, estimated at R$ 600 million, seeks to accelerate precision medicine and place the country among the world leaders in this area.

Despite two advances, obstacles persist. According to the RARAS Atlas data, 17 centers have been enabled by SUS since the creation of the National Policy in 2014, only 9 have registered production between 2017 and June 2020, revealing important regional inequalities in network coverage.

Likewise, the country gives clear signals that it is moving towards occupying a central space in the global discussion on rare things. Doing strengthening research networks to mobilize civil society in awareness campaigns, passing through the creation of public policies and investments in innovation, Brazil shows that it is willing to transform its reality in an international example.

Rather than integrating the global effort, the country begins to exercise leadership and contribute so that thousands of people, sooner invisíveis, can obtain a faster diagnosis, access to treatment and, above all, hope.