Yearslong wait for rare disease diagnosis inspires AI breakthrough in Boca Raton

A Florida family's struggle to diagnose their son's rare genetic disease took nearly four years. The diagnosis, TECPR2, a fatal neurodegenerative condition, was finally made in 2019. The case highlights the challenges faced by families dealing with rare diseases and the lengthy diagnosis process. A Boca Raton company, Sivotec, has developed an AI platform called GENA that can diagnose genetic diseases in 10 seconds. GENA has already helped diagnose 160,000 cases and aims to expand its use beyond geneticists to primary care doctors. The company says its technology can reduce diagnosis timelines from years to seconds, potentially saving lives and accelerating treatment development.