Prevalence and genetic variants of Joubert Syndrome in Italy

Takeaway

  • Through creation of a national network, a minimum prevalence estimate was determined for the rare Joubert Syndrome (JS) in Italy of 0.47 per 100,000 population.

Why this matters

    This is the first estimate of the epidemiology of JS in Italy, which includes genetic profiling and demonstrates the strength of creating national networks to study rare disease.