Topic: Research Progress of Precision Medicine in Rare Disease

We invite researchers to contribute to this Special Issue on Research Progress of Precision Medicine in Rare Diseases, which highlights the transformative potential of personalized diagnostic and intervention strategies. This Special Issue will feature the latest advancements in precision medicine, focusing on innovative studies and protocols designed to enhance diagnostic accuracy and enable targeted, effective treatments for individuals with rare diseases. We encourage submissions that not only address scientific and clinical developments but also explore the experiences and perspectives of individuals with rare diseases and their caregivers, as these insights are essential in advancing more personalized and precision care models. We welcome the submission of original articles, systematic reviews or meta-analyses, intervention protocols, and case reports on the following topics:
1. Genomic Approaches in Rare Disease Diagnosis: Progress and Challenges;
2. Targeted Therapies in Rare Genetic Disorders;
3. Challenges in Translational Research for Rare Diseases: Bridging the Gap from Bench to Bedside;
4. Rare Disease Biomarkers: Identifying and Validating New Targets for Precision Medicine;
5. The Role of Artificial Intelligence and Machine Learning in Rare Disease Research and Treatment Development;
6. Ethical Considerations in Precision Medicine for Rare Diseases;
7. Patient-Centered Approaches in Precision Medicine for Rare Diseases: Impact on Treatment and Outcomes;
8. The Role of Rare Disease Patient Registries in Advancing Precision Medicine;
9. Collaborative Networks and Global Initiatives in Rare Disease Research;
10. The Role of Caregivers in Rare Disease Management: Supporting Families Through Diagnosis and Treatment;
11. Family-Centered Approaches in Rare Disease Research: Empowering Caregivers in Treatment Decision Making.

20 Jun 2025