| Pharmaceutical Strategies for Targeting Genetic Mutations in Rare Diseases: Challenges and Opportunities |
| Paper ID : 1189-IGA |
| Authors |
|
Yasaman Aliyan * Department of Biology, Faculty of Advanced Sciences and Technology, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran |
| Abstract |
| Background and Aims Rare diseases, often caused by genetic mutations, affect a small percentage of the population but collectively impact millions worldwide. While advances in precision medicine have led to significant progress in treating some genetic disorders, many rare diseases remain without effective therapies due to limited research, high drug development costs, and regulatory challenges. The emergence of novel pharmaceutical strategies, including gene therapy, RNA-based treatments, and targeted small-molecule drugs, offers new hope for addressing these unmet medical needs. This review explores the latest advancements in pharmaceutical strategies aimed at targeting genetic mutations in rare diseases. It examines both the scientific breakthroughs and the challenges that hinder drug development, regulatory approval, and patient access to these treatments. Methods A systematic review of recent literature was conducted, focusing on targeted therapies for rare genetic disorders. Key areas examined include small molecule inhibitors, gene-editing technologies such as CRISPR, antisense oligonucleotides (ASOs), and RNA interference (RNAi). Additionally, barriers to drug development—including clinical trial design, market limitations, and regulatory hurdles—were analyzed to assess their impact on treatment availability. Results Recent advancements in gene and RNA-based therapies have shown promising results in treating rare genetic disorders. However, challenges such as high development costs, limited patient populations, and ethical considerations regarding gene editing remain significant obstacles. Pharmaceutical companies and researchers are exploring adaptive clinical trial models, orphan drug incentives, and AI-driven drug discovery to overcome these hurdles and accelerate the availability of effective treatments. Conclusion The future of rare disease treatment lies in a multidisciplinary approach that integrates genetic research, advanced drug development technologies, and policy-driven incentives to promote innovation. While progress is being made, further collaboration among researchers, biotech companies, regulatory agencies, and patient advocacy groups is essential to ensure that cutting-edge treatments reach those who need them most. |
| Keywords |
| Rare diseases, genetic mutations, precision medicine, gene therapy, RNA-based treatments, orphan drugs, targeted therapy, pharmaceutical innovation, drug development challenges |
| Status: Accepted |
