Though rare diseases affect almost 30 million Americans, research challenges and hurdles for therapeutic development persist. The U.S. Orphan Drug Act defines a rare disease as a disorder that affects fewer than 200,000 individuals. These small population sizes make the typical study requirements even more challenging.¹

• There is no FDA-approved treatment for 95% of rare diseases.²
• It takes an average of 6+ years for patients to be accurately diagnosed.²
• 8 out of 10 rare diseases are genetic.²

With pharmaceutical companies less inclined to invest in developing treatments for these disease areas, there is great potential for clinical advancement. Research advancements in one disease may help improve our understanding of other diseases. The FDA has encouraged the study of rare diseases and recently released draft guidance to help advance precision therapies for rare diseases.³

Several new research advancements have opened up possibilities for new diagnostics and therapies, bringing hope to patients and families.

Accelerating Genetic Research with AI and Machine Learning

AlphaGenome, an AI system released by Google, may be able to predict how small changes in noncoding DNA can affect gene expression. The ability to show how genetic mutations in specific areas cause diseases may lead to more targeted therapies for cancer or rare conditions in which cells are unable to produce certain proteins.⁴

Advancements in CRISPR Technology

CRISPR (clustered regularly interspaced short palindromic repeats) technology allows scientists to selectively modify DNA. Recent advancements of CRISPR 2.0 enable more precise editing techniques, making the technology more useful for clinical applications.⁵

In 2025, the first known patient received CRISPR-based gene therapy tailored for his CPS1 deficiency, a mutation preventing the body from breaking down excess nitrogen. While it is too soon to call this incredible advancement a cure, the success of this use case may pave the way for a future where individualized therapies are more widely available for rare diseases.⁶

Targeting the Root of Genetic Mutations

RNA based therapies, including interference (RNAi) can precisely change how genes are expressed. These treatments can produce the proteins that genetic mutations prevent the body from developing, or prevent genes from producing unwanted proteins. This approach has been used to develop therapies for several rare diseases, including Hereditary Transthyretin-Mediated Amyloidosis (hATTR), Acute Hepatic Porphyria, and Hypercholesterolaemia, among others. So far, RNAi therapies have mostly been confined to liver conditions, and new research aims to develop ways to employ the technology in other organs and tissue.⁷

With recent successes in gene therapy technology and AI’s potential to process massive amounts of genetic data, we are entering a promising new era of therapeutic development for rare diseases, potentially enabling effective individualized therapies.

1. https://www.parkinson.org/understanding-parkinsons/statistics
2. https://www.sciencedirect.com/science/article/pii/S1016847825000986
3. https://www.michaeljfox.org/news/how-strategic-de-risking-fueling-parkinsons-treatment-development
4. https://www.michaeljfox.org/state-field
5. https://www.michaeljfox.org/news/advances-parkinsons-therapies-five-key-areas-watch