Experts and professionals involved in the development of Catbra: a Brazilian approach to evaluating the genomics of familial childhood cataracts met last Wednesday (March 11th) in Rio de Janeiro to celebrate the progress achieved by the project, which has had the support of Fiotec since its inception in 2020.

This work aims to map the genes associated with syndromic and non-syndromic familial childhood cataracts, evaluating the impact on prognosis, care, and genetic counseling, as well as to economically analyze the structuring of a molecular diagnostic network for hereditary pediatric cataracts and the genetics causing childhood blindness. All of this as services to be made available in our Unified Health System (SUS).

During the event's opening session, Saint Clair Gomes Júnior, Research Coordinator at the Fernandes Figueira Institute (IFF/Fiocruz), highlighted the project's relevance beyond the development of new technologies. The manager commented on the importance of the social aspect of the initiative, in forming teams that work within the SUS (Brazilian Public Health System) and encouraging young researchers to study rare diseases in Brazil. Aurora Issa, director of the National Institute of Cardiology (INC), emphasized in her speech the importance of integration between different institutions to maximize the project's results. According to her, this is the best way to promote real changes in public health.

Andrea Zin and Zilton Farias de Vasconcelos, coordinators of Catbra at IFF/Fiocruz, continued the program by presenting the history of the project's creation, the team involved, and what has changed in the initiative over the years. The initial work, which focused on childhood cataracts, expanded to study the incidence of other ophthalmological diseases, such as glaucoma. "The clinic [direct patient care] and the laboratory bench [research] need to be closely related." "Our mission is to bring to the patient, in the daily routine of healthcare units, what we discover in our research," emphasized Zilton.

Throughout the morning, the event's program continued with presentations on the landscape of rare diseases in Brazil, in which Têmis Felix, from the Hospital de Clínicas de Porto Alegre (HCPA/UFRGS), addressed the advances made with the National Policy for Comprehensive Care for People with Rare Diseases, published in 2014. The regulation incorporated services for diagnosing these conditions into the SUS (Brazilian Public Health System). Next, Dafne Horovitz, from IFF/Fiocruz, outlined the national challenges in diagnosing rare diseases. According to her, family health teams and emergency care units are often not fully prepared to perform this initial diagnosis. The doctor points out that many rare diseases present symptoms similar to those of other common diseases, thus making them difficult to detect.

Fiotec's support makes the project possible.
The Catbra project was selected in 2020 through a call for proposals from the National Program to Support Healthcare for People with Disabilities (Pronas/PCD). The Ministry of Health's initiative works through tax incentives, allowing legal entities to contribute to the financing of projects developed by non-profit institutions operating in the field.

Fiotec uses its expertise in the Program to support IFF/Fiocruz in carrying out Catbra's activities. During her participation in the event last Wednesday (March 11), Vanessa Costa, technical director of Fiotec, celebrated the project's results and shared the institution's pride in contributing to an initiative that aims to improve the lives of many Brazilian families. "We have about 50 people working directly on the project, including professionals from legal, purchasing, and project management." And this was the first Fiocruz project to be approved in a Pronas call for proposals. "It was an important window of opportunity that opened up for IFF/Fiocruz," he commented.

The manager recalled the challenges in describing the project from a technical and administrative standpoint, as well as the shared coordination between Fiotec, Fiocruz, and the Ministry of Health itself. Despite this, she emphasizes that after a few years there are many reasons to celebrate: "For those of us who work behind the scenes, it's wonderful to come on stage and say, 'That's great, this is the purpose of our work.'" Despite all the challenges and difficulties, this is what fills our souls and gives us the energy to continue into 2026 with great happiness.”