Chemical and Metabolic Perspectives on Rare Diseases: Challenges and Innovations

Rare diseases (RDs) are illnesses or disorders with a low prevalence, affecting a small percentage of the population. Specifically, this means < 50 or 64 cases per 100,000 individuals in the EU and USA, respectively. Although each RD impacts only a limited number of people, there are over 8,000 identified RDs worldwide, collectively affecting more than 300 million individuals. Most RDs have a genetic origin, and more than half manifest during childhood. They are frequently chronic and progressive, severely impacting the quality of life of patients and leading to considerable mortality. RDs are also challenging to diagnose, and for those that are diagnosed, treatment options and available therapies are often limited and costly. Furthermore, despite the large number of people affected globally, a lack of public and private investment in RDs has resulted in the neglect and marginalization of this population.

RDs are complex and, due to their heterogeneous nature and low prevalence, often poorly understood. Research on these diseases is frequently underfunded and faces inherent difficulties in analyzing the limited data available. This complicates diagnosis, drug development, and suitable and affordable treatments. Recently, it has been discovered that RDs share more common characteristics than previously thought, particularly concerning alterations in metabolism and immunity. Consequently, information about one specific RD may enhance our understanding of that disease as well as others. This Research Topic points to gathering recent investigations related to the biology of RDs. We are especially interested in studies examining the impact of RDs on metabolism, along with the biological mechanisms involved. Additionally, we aim to include biochemical investigations that explore the discovery of RD biomarkers and new potential therapeutic compounds. This Research Topic aims to cover recent, novel, and promising research investigations in the RDs field.

We welcome Original Research, Review, Mini Review and Perspective articles on themes including, but not limited to:
• Advanced techniques for studying and diagnosing RDs.
• Investigations into the biological mechanisms involved in RDs.
• Studies related to alterations produced in the metabolism caused by specific RDs, based on metabolomics or other methodologies and conducted in patients, animal models, or cell systems.
• Discovery of new targets for developing therapeutic strategies.
• Identification of new lead compounds that may impact RDs.
• Discovery of potential biomarkers associated with RDs.

Article types and fees

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

• Case Report
• Clinical Trial
• Editorial
• FAIR² Data
• FAIR² DATA Direct Submission
• General Commentary
• Hypothesis and Theory
• Methods
• Mini Review
• ... View all formats

Articles that are accepted for publication by our external editors following rigorous peer review incur a publishing fee charged to Authors, institutions, or funders.

Article types

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

• Case Report
• Clinical Trial
• Editorial
• FAIR² Data
• FAIR² DATA Direct Submission
• General Commentary
• Hypothesis and Theory
• Methods
• Mini Review
• Opinion
• Original Research
• Perspective
• Policy and Practice Reviews
• Review
• Specialty Grand Challenge
• Study Protocol
• Systematic Review
• Technology and Code

Keywords: Rare diseases, Metabolism, Biomarkers, Drug discovery, Biological mechanisms

Important note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.