@pocofrecuentes.cl
Comunidad que busca mejorar el acceso a diagnΓ³stico y terapias para personas con enfermedades raras o poco frecuentes en Chile.
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Poco Frecuentes is a community dedicated to improving access to diagnosis and therapies for individuals with rare or uncommon diseases in Chile. They focus on researching and understanding these less common diseases and their impact on individuals and their families. Their work is organized into three main areas: Genomics, Community, and Public Policies.
In the Genomics area, they use laboratory tools to analyze genetic variations and identify the underlying causes of rare diseases. This comprehensive approach allows them to discover previously unknown or overlooked genetic changes that may contribute to a person's condition. In the Public Policies area, Poco Frecuentes aims to develop a value framework that decision-makers can use to address the issue of access to new technologies for individuals with rare diseases.
They recognize the challenges of limited patient numbers and high development costs, which can lead to inequalities in accessing new therapies. Finally, Poco Frecuentes focuses on building a supportive community for those affected by rare diseases. Through standardized quality-of-life assessments and caregiver burden evaluations, they strive to understand the experiences and needs of individuals without a diagnosis and their caregivers.
They also aim to shed light on the therapeutic journey and the psychosocial effects of living with rare conditions, providing a platform for patients, caregivers, healthcare teams, and civil organizations to share their perspectives. You can support Poco Frecuentes' mission by making a donation, which will contribute to their efforts to improve timely access to diagnosis, therapies, and understanding of rare diseases. Reach out to pocofrecuentes@udd.
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