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Preparing for the Future of Rare Diseases
Stephen C Groft1, Manuel Posada de la Paz2
1National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, 20892-4874, USA. stephen.groft@nih.gov.
Advances in Experimental Medicine and Biology
|December 8, 2017
Summary
Advancements in rare disease research, patient engagement, and diagnostic technologies are improving treatments. Future efforts will focus on big data, personalized medicine, and mobile health for better patient care and outcomes.
Area of Science:
- Medical Research
- Genetics
- Patient Advocacy
Background:
- The rare disease community invests heavily in research and addressing challenges like small patient populations in clinical trials.
- Patient advocacy and engagement in research are increasingly recognized.
- Past efforts focused on research, information gathering, and understanding clinical trial limitations.
Purpose of the Study:
- To explore current and future strategies for rare disease research and patient care.
- To highlight advancements in diagnostics, treatments, and healthcare delivery.
- To address the evolving landscape of rare disease management.
Main Methods:
- Review of current trends and future projections in rare disease research.
- Analysis of technological advancements impacting diagnostics and treatment.
- Examination of evolving healthcare models and regulatory approaches.
Main Results:
- Growing pipeline of orphan products and improved clinical trial designs.
- Enhanced diagnostic capabilities through advanced sequencing.
- Increased acceptance of patient engagement and value-based care.
- Potential of mobile health (mHealth) and telehealth for monitoring and access.
Conclusions:
- Future rare disease care will involve greater data interpretation, personalized treatments, and integrated digital health solutions.
- Improved diagnostics, nomenclature, and regulatory flexibility will accelerate product approvals.
- Addressing psychosocial needs, especially in children and adolescents, remains crucial.
- Telehealth and mHealth offer promising avenues for improved access and monitoring.
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