Genetics and Genomics of Heritable Pediatric Disorders
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: closed (20 October 2022) | Viewed by 412
Special Issue Editors
Interests: neuromigration disorders; microcephaly; leukodystrophies and hereditary leukoencephalopathies
Special Issues, Collections and Topics in MDPI journals
Interests: intellectual disability; dysmorphology; inborn errors of metabolism; developmental delay in children
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
The technological advancements in nucleic acids and protein sequencing platforms and in massively parallel sequencing, with corresponding developments in global online analyses and patient data disease databases, enable researchers to identify and examine genetic errors across the genome, transcriptome and proteome. This technological revolution has generated an unprecedented acceleration in rate and depth of knowledge gained, from studies on human inherited diseases and pediatric conditions ensuing.
The identification of genetic defects and risk factors has increased dramatically in the last decade. However, the precise mechanism underlying pathophysiology remains elusive for most genetic disorders. Consequently, effective treatments are yet to be established. Identifying specific genetic and physiological contributions to heritable pediatric disorders potentiates early intervention; targeted, more effective treatments; anticipation of comorbidities; and counselling for parents on prognosis and recurrence risk.
We encourage submissions of unpublished original manuscripts (research articles, reviews, case reports and communications) with a strong genetic component describing recent advances on all aspects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 (induced pluripotent stem cells), non-coding RNAs, clinical and molecular descriptions of new syndromic and non-syndromic forms of genetic disorders, clinical and molecular descriptions of congenital defects and dysmorphic syndromes in prenatal and postnatal periods, as well as genotype–phenotype correlations.
Prof. Dr. Pawel Gawlinski
Prof. Dr. Robert Śmigiel
Guest Editors
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.
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
- human genetics
- genomics
- rare diseases
