More than 80% of rare diseases are single-gene genetic disorders and lack of effective treatments. Gene therapy can alter the biology of living cells by modifying or manipulating gene expression, offering the possibility of correcting underlying genetic defects to address the underlying cause of rare diseases. With the development of genetic diagnostics for rare diseases, advances in vector delivery technologies and biotechnologies such as CRISPR-Cas9, gene therapy has become one of the key research directions for therapeutic drugs for rare diseases.

Rare diseases, despite their name, affect nearly 350 million people worldwide. However, due to their scarcity and diversity, research in this area has been traditionally challenging, making this development a beacon of hope for patients and researchers worldwide. After decades of intense scientific research into developing gene editing technologies, despite several obstacles, gene therapy for rare diseases has fostered several successful instances recently. The year 2023 has witnessed several FDA approvals so far, each marking the first time gene therapy has been approved for different rare diseases. These achievements indicate a growing inclination among regulatory bodies to accept data on safety, efficacy, and durability for the endorsement of these treatments.