Genetic Disease in Mediterranean Region
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: closed (1 May 2021) | Viewed by 18395
Special Issue Editors
Interests: clinical genetics; dysmorphology; biotechnology and applications; rare diseases
Special Issues, Collections and Topics in MDPI journals
Interests: rare disease; population genetics and diversity; molecular medicine; mutation databases; precise medicine; genome editing
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
The first human genome sequence was established at the beginning of the third millennium. Since then, advanced molecular sciences has been shaping the economy and societies. A recent high-throughput sequencing technology has dramatically changed the nature of biomedical research and molecular diagnosis. When applied to individuals with genetic conditions, diverse approaches of this technology allow scientists to identify genetic variants and to understand genome structure and function better.
In the past two decades, exome sequencing has emerged as a comprehensive and cost-effective approach to identify pathogenic variants in the protein-coding regions of the genome. Nearly half of the genes causing 8,000 rare monogenic disorders, which are often difficult to diagnose based solely on symptoms, have been identified. More than 50% of individuals with rare genetic disorders are yet to be diagnosed and treated in order to improve their life quality. Generally, suggestive clinical features can be used to distinguish one condition from another; however, in some cases these clinical features may overlap with several other genetic conditions, whereas exome-sequencing fails to identify potential pathogenic variants in patients. International and national genetic variation databases are now helping to elucidate disease-causing variants putative effects on gene function, estimate the frequency of alleles within populations, differentiate among subtypes of diseases, trace how genes may predispose to or protect against illnesses, and improve precise medical therapies.
The demic complexity of the Mediterranean Basin, an important intersection among three continents where different people and cultures have met over time, has shaped the genetic variability of the Mediterranean populations. Migrations, together with cultural exchanges and environmental factors, gave rise to present-day genomes structures of Mediterranean populations. The identification of pathogenic genetic variations and susceptibility factors such as rare, common, and complex genetic-related diseases has been well studies in many populations; however, there is much more to be done in terms of identifying a particular population for immediate use in accurate diagnosis, to gain an improved understanding of the underlying molecular mechanisms and develop effective preventive medicine strategies.
In this Special Issue, ‘’Genetic Disease in Mediterranean Region’’, we would like to contribute to the growing list of reported pathogenic genetic variations and genetic risk alleles to better understand the genotype and phenotype correlations of human diseases. We welcome studies of any design (e.g., rare diseases, candidate genes, genetic epidemiology, case reports, cohorts, meta-analysis, and genome editing and treatment) that have been performed on any genetic disease in Mediterranean Region.
Prof. Munis Dundar
Dr. Mahmut Cerkez Ergoren
Guest Editors
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Keywords
- rare disease
- novel variants
- Mediterranean
- common genetic disease
- novel gene
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