The U.S. Food and Drug Administration has granted accelerated approval to Forzinity, the first treatment for Barth syndrome, a rare X-linked genetic disorder primarily affecting males. Developed by Stealth Biotherapeutics, the therapy targets mitochondrial dysfunction underlying the condition, offering new hope for patients with this life-threatening disease. This milestone follows years of advocacy and highlights progress in addressing ultra-rare disorders.

New gene therapies are in development for conditions like follistatin-related disorders and other genetic issues, aiming to provide effective treatments without ongoing interventions. The pipeline includes therapies for muscle growth, hormone regulation, and tissue repair. This marks progress in precision medicine for rare and chronic diseases.

Illumina introduced an AI tool designed to assist in diagnosing rare diseases, as part of recent biotech advancements reported on September 4, 2025.