iGenRare

The diagnostic journey for patients with a rare disease is very long (e.g., a median of 6 years in the 100,000 Genomes Project) despite the fast development of diagnostic technology; the patient sees several physicians and does several tests before reaching the final diagnosis. This journey has emotional and financial consequences and delays in starting the appropriate treatment on time before causing irreversible damage. This is not surprising, knowing that we have thousands of rare diseases, and there are few experts worldwide for specific rare diseases. GeneRare is an innovative and novel solution for addressing rare disease challenges using Artificial Intelligence and All-purposed biomedical large language models. GeneRare will have the potential to support physicians, shorten the diagnostic journey, and unlock a wealth of opportunities for the prevention and treatment of patients with rare diseases.