#383 Inside the Brazilian Rare Genomes Project
About this episode
This episode explores the rare disease landscape in Brazil and the impact of genomics on diagnostics.
As Rare Disease Month comes to a close and Rare Disease Day approaches, we are turning our focus beyond the United States to explore what rare disease care looks like in Brazil, and how genomics is reshaping the diagnostic journey. In this episode, we take a deep dive into the rare disease landscape in Brazil, including how patients access genetic testing within a public healthcare system, the barriers families face compared to those in the U.S., and how whole genome sequencing (WGS) is accelerating diagnoses that once took years or even decades. Joining us is Dr. João Bosco de Oliveira Filho, a physician-scientist who helped lead Brazil’s national rare disease genomics initiative, Genomas Raros, and now continues this work through his laboratory, NeoGenomica. We’re also joined by Victor Camillo from MGI, who shares a global technology perspective on how large-scale sequencing efforts can expand access to rare disease diagnostics, especially in middle-income countries. Together, we discuss: How rare disease care in Brazil compares to the U.S. Why whole genome sequencing is a game changer for undiagnosed patients Lessons learned from national-scale genomics initiatives The role of…
People in this episode
Host: Kira Dineen
Guests: Dr. João Bosco de Oliveira Filho, Victor Camillo
Topics covered
- rare diseases
- genomics
- healthcare systems
- genetic testing
- whole genome sequencing
- public-private partnerships
Mentioned in this episode
Organizations: Genomas Raros, NeoGenomica, MGI
Places: Brazil, United States
More episodes of DNA Today: A Genetics Podcast
- #391 Living with FSGS: A Genetic Kidney Disease Journey
- #390 Prince, Mayte Garcia, and Their Son Amiir’s Pfeiffer Syndrome Type 2 Story
- #389 From Natural History to Gene Therapy: The Future of Danon Disease Research
- #388 From Medical Mystery to Gene Therapy: One Family’s Sialidosis Journey
- #387 The Hidden Work of Rare Disease: Navigating a Broken Healthcare System
- #386 Achondroplasia Beyond Height: Managing Lifelong Medical Needs
Explore listener stats, chart rankings, contacts and more on the DNA Today: A Genetics Podcast podcast page.