Brazil promotes actions for the diagnosis of rare diseases with UDNI manifesto

On April 29, the world celebrates "Undiagnosed Day" to give visibility to patients who have a rare disease that has not yet been diagnosed. To mark the date, the Undiagnosed Diseases Network International (UDNI) launched a global manifesto focused on cooperation and expansion of the diagnostic effort. Dr. Roberto Giugliani, member of the UDNI Council, translated the document into Portuguese to expand the reach of the message in Brazil. "The manifesto draws attention so that the needs of these patients who do not yet have a name for their disease are considered", says Giugliani.

VANGUARDA - The country strengthens its health ecosystem through initiatives based at Casa dos Raros (CDR), which are aligned with the efforts of the General Coordination of Rare Diseases of the Ministry of Health to expand the availability of genetic tests for the SUS.

Undiagnosed Diseases Program: CDR's pioneering partnership with Dasa Genomics, to shorten patients' journeys through the evaluation of undiagnosed cases and investigation with genetic tests provided at no cost.

Rebrand: The Brazilian Network for Undiagnosed Diseases, based at CDR, which advances to resolve the diagnosis of difficult cases through multi-omics techniques.

The objective is to transform uncertainty into diagnosis through science and national and international collaboration. Click here to read the manifesto in full.