Exploring Human Diseases Through Genomic and Genetic Analyses

Dear Colleagues,

Genomic and genetic analyses are transforming medical practice at the level of preventive procedures, early and more accurate diagnoses, personalized care and treatments, improved prognosis, and genetic counseling.

Approaches aimed at exploring the association between genetic patterns and human diseases are leading to a progressive and more in-depth understanding of the pathophysiological mechanisms associated with the expression of a single allelic variant or the concomitant expression of different allelic variants, either quantitatively or qualitatively, and the interaction between the genome and environmental factors. 

Furthermore, genomic and genetic analyses are relevant for the stratification of risk at an individual and population level, which can support the implementation of specific prevention policies.

Medical practice based on genetics and genomics will redesign structural healthcare organization and health financing, warranting new ethical concerns, such as genetic data access and protection.

This Special Issue on "Exploring Human Diseases through Genomic and Genetic Analyses" will mainly focus on the following trends via reviews, new methodological approaches, and original research:

• Innovative medical applications, encompassing genomic and genetic analyses, in human diseases;
• Genomic and genetic analyses applications in early diagnosis, personalized care, and treatment (such as cancer, inborn errors of the metabolism, neurologic diseases, ophthalmologic diseases, and others);
• Advances in technologies and testing methods aimed at improving genomic and genetic analyses;
• Identification of the genetic etiology of monogenic diseases—new genes, causal genes of diseases of an unknown cause, identification of somatic mosaicism as the cause of malformations, neurodevelopment, and neurologic diseases;
• Translation of pharmacogenomics into clinical practice;
• Newborn vs. opportunistic genomic screening.

Prof. Dr. Fernando Regateiro
Dr. Henriqueta Silva
Guest Editors

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