The institution that will open its doors in Porto Alegre has plans for national expansion
Patients’ journey to the accurate diagnosis of a rare disease is often long and complicated, which hinders the initiation of quality treatment – which in itself is already inaccessible. In order to shorten this process and offer more adequate management for people affected by rare diseases, researchers in the sector have created the Casa dos Raros.
The initiative started to be implemented in 2020 and the project will actually come to the world this year in Porto Alegre (RS). “Casa dos Raros will be inaugurated in 2023 and will offer multidisciplinary assistance, laboratory diagnosis, experimental research and clinical research, as well as teaching and training, always focused on the area of rare diseases”, explains Roberto Giugliani, professor at the Department of Genetics of the UFRGS and founder of the Casa dos Raros. “The institution was born out of a partnership between the Instituto Genética para Todos, an NGO created by health professionals to expand access for patients with rare genetic diseases to the best methods of diagnosis and treatment, and Casa Hunter, an association of family members of patients with rare diseases that have emerged to help develop actions that result in a better quality of life for patients,” explains Giugliani.
Regarding the financial feasibility of the project, the two institutions seek donations from private companies and individuals to pay for the construction of the Casa dos Raros unit in Porto Alegre, which is expected to start and maintain its operations based on the services provided to the SUS and to the health insurance. The House will also have several strategic partners, such as Dasa Genomics, which will assist in the areas of genetic diagnosis and clinical research, and Fiocruz, which has offered support in the area of gene therapy treatment. Project partners will also be several universities – such as that of Pennsylvania – as well as hospitals and research centres.
Difficulties in relation to rare diseases begin even before the search for a diagnosis. The lack of information on the subject affects both patients and healthcare professionals, who often end up ignoring the initial symptoms. Also, as these are uncommon diseases, treatments are not affordable.
Faced with this reality, the managers of Casa dos Raros know the challenging scenario they will face. “The challenges are numerous,” emphasizes the UFRGS professor. “These range from a greater awareness of the population and healthcare professionals in relation to rare diseases to the wider availability of means of diagnosis and treatment, as well as concrete actions so that diagnosis is increasingly early and treatments are rapidly accessible”, adds he . .
Casa dos Raros also wants to act to ensure access to care for all, both through the public health system and through agreements with private health insurance companies. ‘The next step will be to take care of patients with rare diseases on an increasing scale and in a comprehensive way, as well as launch research, teaching and training projects in the area.’
The initiative, a pioneer in Latin America, already has plans to expand. “We bring an unprecedented vision in terms of conception and approach, and the idea is to multiply it on the territory. A new, larger unit is being planned in San Paolo, linked to a hospital dedicated to rare diseases”, reveals Giugliani. “And soon we will have other units in other regions of Brazil,” he adds.
Source: Terra

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