News

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...

MPS Sul 2025 Symposium promotes exchange of knowledge between doctors and families in RS

From November 28th to 30th, 2025, Porto Alegre will be the stage for the MPS Sul Symposium, a meeting that promises to unite science, health and hospitality around the rare diseases of the Mucopolysaccharidoses (MPS) group. The program highlights the participation of Dr. Hernan Amartino, from...

Historic breakthrough: gene therapy curbs Huntington's disease

British researchers reported, on September 24, an unprecedented milestone in the treatment of Huntington's disease: in a clinical trial of gene therapy, the progression of the disease was reduced by 75% after three years of follow-up. Huntington's disease is a degenerative disease caused by a...