Exploring Human Diseases Through Genomic and Genetic Analyses
A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular Genetics and Genetic Diseases".
Deadline for manuscript submissions: 30 November 2025 | Viewed by 1060
Special Issue Editors
Interests: cancer genetics and epigenetics; cancer
Special Issues, Collections and Topics in MDPI journals
Interests: cancer genetics; multifactorial diseases; pharmacogenetics
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
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
Manuscript Submission Information
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Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
Keywords
- genomic and genetic analyses
- genomic medicine
- personalized medicine
- technologies and testing methods
- complex diseases
- monogenic diseases
- pharmacogenomics
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