News

Getting older: an additional challenge for those with a rare disease

For decades, common sense and medicine itself associated rare diseases almost exclusively with children. However, technological advances and early interventions that occurred mainly after the 90s radically changed this scenario. Today, people who would previously have an early outcome reach maturity...

February 28 reinforces the importance of diagnosis on World Rare Disease Day

This February 28th, the calendar marks more than the end of a month; marks the wake-up call for a journey of overcoming that affects millions of Brazilians. World Rare Disease Day was chosen to illuminate the reality of families who often live for years in a true medical labyrinth. Without an...

Leisure and culture are rights: guide for people with rare diseases

Diagnosis of a rare disease in adulthood: Maíra’s report

By Maíra Kiefer, journalist At 44 years, seven months and 17 days, I lost consciousness for more than an hour after two tonic-clonic seizures in a row. They started right after the end of a work meeting. The scene, which I insistently recreate time and again when I rethink the diagnosis and...

Optical genome mapping: Rio Grande do Sul laboratory uses innovative technique to identify rare diseases

An innovation is transforming genetic research in Brazil: optical genome mapping, a method that allows large segments of DNA to be analyzed and identify structural changes that often go unnoticed in conventional tests. “Unlike traditional sequencing, which reads small portions of DNA, optical...

MPS IIIA: gene therapy may arrive soon

Casa dos Raros is honored at the Legislative Assembly of RS

Casa dos Raros, from Porto Alegre, received on September 17th the Medal of the 56th Legislature of the Legislative Assembly of Rio Grande do Sul, nominated by state deputy Prof. Issur Koch. The honor recognized the institution's trajectory of innovation, science, care, research and solidarity, which...

Christmas, New Year and dietary restrictions: adjustments can make supper more inclusive

The holidays are synonymous with a full table, but for people with rare diseases that require restrictive diets, the moment can bring risks. Casa dos Raros nutritionist, Mariana Lima Scortegagna, explains. "Consuming a food that is not part of the diet can have serious consequences for the...