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<p>Rare diseases include 6,000–8,000 different conditions, over 70% of them having a genetic cause. Most cases have early manifestations (in childhood and adolescence), and just a small fraction (around 5%) has specific therapies available. Nevertheless, appropriate management measures contribute to improve the quality of life of patients and families. They affect up to 3.5–5.9% of the world’s population and are recently attracting attention from international agencies such as the United Nations and the World Health Organization. In Brazil, a condition is considered rare when there are no more than 65 people affected in each 100,000 inhabitants and it is estimated that around 12&#xa0;million people in the country may present one of these conditions, which represents a significant burden to the family and to the health care system. Despite concrete advances observed in the last decades, there are still significant unmet needs for persons living with rare diseases in Brazil. With the main aim of shortening the journey of patients with rare diseases in Brazil, we envisioned a model that involves comprehensive clinical and laboratorial multiprofessional evaluations, with intensive use of telemedicine and genomics. The model includes a strong activity in education, training and research, and has several parallel initiatives (biobank, registry, undiagnosed disease program, information services, extramural diagnostic support), in addition to strategic partnerships, that make the overall project stronger. This report describes the system in place at the pilot unit of Casa dos Raros (that started activities in 2023, in Porto Alegre, Brazil) and the stimulating preliminary results, which indicate a significant reduction in the diagnostic journey. This model, that operates as a charity and does not charge any fees to patients and families, will be replicated in other regions of Brazil, with the opening of a second unit planned to occur in the near future in Sao Paulo.</p>

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Redefining the approach to rare diseases: the experience of “Casa dos Raros” in Brazil

  • 期刊论文

  • 发表日期：

    2025年2月6日

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  • Roberto Giugliani,
  • Bibiana Mello de Oliveira,
  • Bruna Baierle Guaraná,
  • Tássia Tonon,
  • Franciele Barbosa Trapp,
  • Fernando Machado da Costa,
  • Larissa Pozzebon da Silva,
  • Guilherme Baldo,
  • Mariluce Riegel-Giugliani,
  • Fabrizio Barbosa,
  • Antoine Daher,
  • Carolina Fischinger Moura de Souza

摘要

Rare diseases include 6,000–8,000 different conditions, over 70% of them having a genetic cause. Most cases have early manifestations (in childhood and adolescence), and just a small fraction (around 5%) has specific therapies available. Nevertheless, appropriate management measures contribute to improve the quality of life of patients and families. They affect up to 3.5–5.9% of the world’s population and are recently attracting attention from international agencies such as the United Nations and the World Health Organization. In Brazil, a condition is considered rare when there are no more than 65 people affected in each 100,000 inhabitants and it is estimated that around 12 million people in the country may present one of these conditions, which represents a significant burden to the family and to the health care system. Despite concrete advances observed in the last decades, there are still significant unmet needs for persons living with rare diseases in Brazil. With the main aim of shortening the journey of patients with rare diseases in Brazil, we envisioned a model that involves comprehensive clinical and laboratorial multiprofessional evaluations, with intensive use of telemedicine and genomics. The model includes a strong activity in education, training and research, and has several parallel initiatives (biobank, registry, undiagnosed disease program, information services, extramural diagnostic support), in addition to strategic partnerships, that make the overall project stronger. This report describes the system in place at the pilot unit of Casa dos Raros (that started activities in 2023, in Porto Alegre, Brazil) and the stimulating preliminary results, which indicate a significant reduction in the diagnostic journey. This model, that operates as a charity and does not charge any fees to patients and families, will be replicated in other regions of Brazil, with the opening of a second unit planned to occur in the near future in Sao Paulo.