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 Author Guidelines and Article Processing Charges, or direct any questions to the Editorial Office: This email address is being protected from spambots. You need JavaScript enabled to view it..
Abstract Deadline: 31 August 2024
Manuscript Deadline: 30 November 2024
