Advances in Genetic Analysis of Congenital Disorders
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 (25 September 2025) | Viewed by 932
Special Issue Editors
Interests: chromatinopathies; rare diseases; methylation changes; GWAS; next-generation sequencing; inborn defects treatment; clinical genetics; reverse genetics
Interests: neuromigration disorders; microcephaly; leukodystrophies and hereditary leukoencephalopathies
Special Issues, Collections and Topics in MDPI journals
2. Department of Laboratory Diagnostics, Poznan University of Medical Sciences, Poznan, Poland
Interests: prenatal diagnostics; cytogenetics; molecular testing; array comparative genomic hybridization (aCGH); postnatal diagnostics
Special Issue Information
Dear Colleagues,
Congenital disorders, also known as birth defects or congenital anomalies, represent a significant global health concern, arising from genetic, infectious, nutritional, or environmental factors. They can contribute to pregnancy loss, perinatal mortality, long-term morbidity, and extended hospital stays. Advances in genomic research have enhanced our understanding of the genetic basis behind these conditions, which are estimated to account for 20-50% of cases (depending on the methods applied and cohorts tested). Many of these disorders can now be detected prenatally, with increasing accuracy. Innovations in high-throughput sequencing, advanced imaging techniques, and multi-omics approaches have significantly enhanced diagnosis, enabling more precise risk stratification and personalised care. This Special Issue will bring together recent studies uncovering novel genetic variants and refining genotype–phenotype relationships and emerging treatment options. The articles in this Special Issue will enhance our knowledge of the underlying mechanisms behind human congenital defects, with implications in improving diagnosis, risk prediction, and potential therapeutic approaches.
Dr. Ewelina Bukowska-Olech
Prof. Dr. Pawel Gawlinski
Dr. Katarzyna Ziółkowska
Guest Editors
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Keywords
- congenital disorders
- rare diseases
- next-generation sequencing
- whole-exome sequencing (WES)
- whole-genome sequencing (WGS)
- array comparative genomic hybridization (aCGH)
- prenatal testing
- postnatal testing
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