Advances in Rare Diseases Biomarkers

Dear Colleagues,

A rare disease is a health condition with a lower prevalence than common diseases. The World Health Organization defines a rare disease as one that strikes fewer than 65 per 100,000 people. However, their combined effect is significant: around 7000 rare diseases affect approximately 350 million people worldwide.

Biomarkers play a crucial role in diagnosing and monitoring rare diseases, which are often challenging to detect and understand due to their low prevalence and diverse clinical manifestations. Biomarkers serve as measurable indicators of biological processes or conditions in rare diseases, offering valuable insights into disease mechanisms and progression. These markers may include genetic mutations, protein levels, or other molecular signatures unique to a rare condition. The discovery and validation of such biomarkers contribute to early detection and the development of targeted therapies, allowing for more effective and personalised treatment approaches.

As technology advances, the integration of omics technologies, such as genomics, proteomics, and metabolomics, has further expanded the repertoire of potential biomarkers, fostering a deeper understanding of rare diseases and paving the way for innovative diagnostic and therapeutic strategies. Biomarkers enhance our ability to navigate diagnostic challenges and promise to improve patient care and foster breakthroughs in treatment modalities.

For the Special Issue, we continue looking for original research articles and state-of-the-art reviews on novel and established proteomic, metabolomic, or transcriptomic biomarkers that can help us better understand the underlying molecular mechanisms of rare diseases. Additionally, we are interested in biomarkers that can be used to diagnose and predict the prognosis of rare diseases and determine individual responses to therapies.

Prof. Dr. Andrea Bernini
Guest Editor

Manuscript Submission Information

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• orphan diseases
• rare diseases
• inborn errors of metabolism
• mitochondrial disorders
• biomarker discovery