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Updated: Aug 9, 2026
Drug Repurposing Hypothesis Generation Using the "RE:fine Drugs" System
Published on: December 11, 2016
Orphan drug designation and pharmacogenomics: options and opportunities
Paul D Maher1, Marlene Haffner
1Office of Orphan Products Development, Food and Drug Administration, Rockville, Maryland 20857, USA. paul.maher@fda.hhs.gov
Abstract:
The rapid increase in characterization and understanding of the human genome has had a major impact on the development of therapies for rare diseases. The "inborn errors of metabolism", which are generally rare diseases, are beginning to realize new therapies based on an understanding of disease processes at the genetic level. Likewise, an understanding of acquired genetic errors, as seen in cancer, is allowing for targeted approaches to therapy that are revolutionizing, in many cases, both standards of care and prognosis. Since its inception, the Office of Orphan Products Development has been privileged to witness many of the successes and also the failures of pharmacogenomics as it relates to rare diseases. This approach, from a regulatory standpoint, often calls into question even basic assumptions about disease classification. Phenotypically homogeneous diseases are more frequently becoming 'subsetted' on the basis of genomics; conversely, overlap of therapeutic mechanisms of action is increasingly seen across seemingly diverse diseases. With the recent completion of sequencing of the human genome, as well as the increasing ease of DNA sequencing, the promise and challenge of the pharmacogenetic approach to treatment will be expected to play an increasingly important role in development of new therapies for both rare and common diseases.
Insights
Genomic understanding is revolutionizing rare disease therapies, particularly for inborn errors of metabolism and cancers. Pharmacogenomics offers promise and challenges for developing new treatments for both rare and common diseases.
Area of Science:
- Genomics and Personalized Medicine
- Pharmacogenomics
- Rare Disease Therapeutics
Background:
- Advancements in human genome characterization are driving novel therapeutic development.
- Inborn errors of metabolism and cancers are key areas benefiting from genetic insights.
- The Office of Orphan Products Development has observed pharmacogenomics' impact on rare diseases.
Purpose of the Study:
- To explore the impact of genomic understanding on rare disease therapy development.
- To discuss the role of pharmacogenomics in treating rare and common diseases.
- To highlight the evolving landscape of disease classification and therapeutic strategies.
Main Methods:
- Analysis of genomic data for disease characterization.
- Application of genetic understanding to develop targeted therapies.
- Review of successes and failures in pharmacogenomics for rare diseases.
Main Results:
- Genomic insights enable new therapies for inborn errors of metabolism.
- Targeted therapies based on acquired genetic errors are transforming cancer care.
- Genomics is leading to subsetting of phenotypically homogeneous diseases.
- Therapeutic mechanisms show overlap across diverse diseases.
Conclusions:
- Pharmacogenomics plays a crucial role in developing new therapies for rare and common diseases.
- Increasing ease of DNA sequencing enhances the promise of pharmacogenetic approaches.
- Genomic advancements challenge traditional disease classification and treatment paradigms.
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