Biochemistry and Molecular Genetics of Rare Diseases | 2025

Genetic diseases are one of the most difficult problems in current biology and medicine. Although all of them are rare, the number (several thousand) multiplied by affected patients indicates that there are millions of them (and their families) suffering from them. Most rare genetic diseases are severe disorders, but at the same time, most of them are also as yet untreatable. Development of any potential treatments requires understanding the biochemical and genetic principles of the diseases, thus, studies in this field are important for both basic knowledge and practical applications. Studies on biochemical and genetic mechanisms of the diseases, on improving diagnostic procedures, on the course of diseases and variability of symptoms, as well as on novel therapeutic approaches are therefore crucial to combat the current problem of rare diseases.

This Special Issue welcomes contributions that improve our understanding of the biochemistry and genetics of rare diseases.

Potential areas of interest may include, but are not limited to:
● Biochemical and genetic mechanisms of the diseases
● Improvement of diagnostic procedures
● Understanding variability of the diseases
● Improvement of existing and development of novel therapeutic approaches

For authors, please review the journal's information regarding Article Types, Author Guidelines, and Publishing Fees, or direct any questions to the Editorial Office: abp@frontierspartnerships.org.

Even though abstract submission is not mandatory, we encourage all interested researchers to submit a manuscript summary before submitting their manuscript. Manuscript summaries do not have to coincide with the final abstract of the manuscripts.

Article types and fees

This Special Issue accepts the following article types, unless otherwise specified in the Special Issue description:

• Brief Research Report
• Mini Review
• Opinion
• Original Research
• Perspective
• Review
• Systematic Review

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 Special Issue accepts the following article types, unless otherwise specified in the Special Issue description:

• Brief Research Report
• Mini Review
• Opinion
• Original Research
• Perspective
• Review
• Systematic Review

Keywords: Genetic diseases, Rare disorders, diagnostics, variability of diseases, therapeutic approaches