Overview
- At an AMIIF press conference in Morelia, IMSS geneticist Haydée Rosas Vargas and pediatrician Leticia Belmont called for a secure, dynamic national registry to guide care and policy.
- Specialists estimate around 8 million people in Mexico have one of 7,000–8,000 rare conditions, aligning with roughly 300 million affected globally.
- About 70–72% of rare diseases are genetic and often begin in childhood, with up to 30% of affected children dying before age five due to late or incorrect diagnosis.
- Patients can spend 5–30 years seeking a diagnosis after seeing 4–12 specialists, with 40% misdiagnosed and many traveling far for answers or missing genetic counseling.
- Fewer than 5% of rare diseases have specific treatments; of 689 orphan drugs worldwide, 96 had Mexican authorization by February 2024, prompting calls for expanded newborn screening (up to 75 conditions), broader genomic sequencing capacity and designated reference centers.