Genetics of Human Diseases: Fishing for Causality

Dear Colleagues, 

The genetic and molecular foundations of human diseases have long been a central objective of biomedical research. Since the decoding of the human genome, the field has witnessed exponential advances in uncovering genetic variations and molecular pathways associated with a wide array of diseases. However, despite this progress, a persistent challenge remains—moving from the identification of associations between genes and diseases to the demonstration of causality. Establishing causal relationships is essential not only for comprehending disease pathogenesis but also for translating genetic insights into meaningful clinical interventions. This Special Issue aims to bring together cutting-edge research and comprehensive reviews that advance our knowledge of how genetic, epigenetic, and molecular factors causally contribute to human diseases. The metaphor of "fishing for causality" captures the ongoing scientific effort to sift through complex biological data, discern patterns, and ultimately hook the true drivers of disease amidst a sea of associations.

We invite high-quality original research articles, comprehensive reviews, and other contributions that address, but are not limited to, the following topics:

• Genetic and molecular dissection of monogenic and complex diseases;
• Novel approaches to causal inference in genetics and molecular biology;
• Functional validation of disease-associated variants;
• Systems biology analyses of disease networks;
• Emerging technologies for studying genetic causality;
• Clinical genomics and personalized medicine insights grounded in molecular research;
• Epigenetics in the pathophysiology of diseases;
• Identification and validation of biomarkers for disease prediction, diagnosis, and progression.

We welcome contributions across a wide range of disease areas, including, but not limited to, cancer, metabolic syndromes, autoimmune diseases, skin disorders, neurodegenerative disorders, cardiovascular diseases, and rare genetic syndromes.

Dr. Kali Makedou
Guest Editor

Dr. Iasonas Dermitzakis
Guest Editor Assistant

Manuscript Submission Information

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• genetic causality
• disease pathogenesis
• molecular mechanisms
• functional genomics
• biomarkers
• precision medicine
• genetic variants
• complex disease
• translational research
• epigenetics