CALL FOR PAPER
JOURNAL OF MOTHER AND CHILD (2022) SPECIAL ISSUE
Title: Genetics and Genomics of Pediatric Congenital Diseases
Dear Colleagues,
With the technological advancements in DNA sequencing platforms and massively parallel sequencing, genetic studies have allowed researchers to examine inborn errors across the genome. This scientific revolution accelerated studies on human inherited diseases on an unprecedented scale.
Although the identification of underlying genetic defects and risk factors has increased significantly in the last decade, the mechanisms underlying the pathophysiology of most genetic disorders still remain elusive and, consequently, effective treatments have not yet been established. Finding specific causes for genetic (congenital) disorders gives hope for more effective early intervention, targeted therapies, anticipation of comorbidities, and counselling for parents about prognosis and recurrence risk.
We encourage submissions of unpublished original manuscripts (research articles, reviews, case reports and communications) to have a strong genetic component describing recent advances on all aspects related, but not limited, to the following topics: functional studies of genes or variants, gene expression analyses, rare variant analyses, animal models, iPSCs, non-coding RNAs, a clinical and molecular description of new syndromic and non-syndromic forms genetic disorders, and genotype–phenotype correlations.
Please submit your article via Editorial Manager:
Submission deadline: September 30, 2022
Yours sincerely,
Aleksandra Jezela-Stanek MD, PhD, Assoc. Prof.
Editor of the Special Issue
Pawel Gawlinski PhD, Assoc. Prof.
Editor of the Special Issue