New Insights into Genetic Risk Assessment in Congenital Diseases Withdraw
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 (20 March 2022)
Special Issue Editors
Interests: rare disease; molecular genomics
Special Issues, Collections and Topics in MDPI journals
Interests: birth defects; epidemiology; GWAS
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Congenital diseases are conditions with a partial or complete prenatal origin. Common examples include both phenotypes that are present at birth (e.g., congenital malformations, preterm birth) or those that manifest later (e.g., autism), and a congenital component of risk for a range of diseases is becoming increasingly recognized, even among some diseases that have not been historically considered as having a congenital basis. Collectively, congenital diseases have a tremendous impact on infant and childhood mortality and morbidity, though, given their heterogeneity, it is difficult to estimate their cumulative impact. These conditions include genetic syndromes and chromosome abnormalities, many of which have a well-defined genetic etiology, as well as non-syndromic conditions, many of which are suspected to have a complex etiology involving multiple genes and environmental factors, as well as both maternal and inherited genetic effects. In this Special Issue, we invite papers related to the elucidation of the genetic and genomic etiologies of congenital diseases and the molecular diagnostic evaluation of such conditions among humans. Submissions related to epidemiological and medical genetics research are encouraged. New insights into the genetic risk involved in congenital diseases are needed in order to work towards better understanding the determinants of these conditions.
Dr. Jennifer E. Posey
Dr. A. J. Agopian
Guest Editors
Manuscript Submission Information
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Keywords
- congenital disorders
- birth defects
- autism
- medical genetics
- molecular diagnoses
- genetic and genomic disorders
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