Special Issue

Topic: Genetic Neurodevelopmental Diseases

A Special Issue of Journal of Translational Genetics and Genomics

ISSN 2578-5281 (Online)

Submission deadline: 30 Nov 2024

Guest Editor(s)

Dr. Pasquale Striano

Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy.

Dr. Marcello Scala

Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy.

Dr. Alessandro Orsini
Pediatric Neurology, Pediatric University Department, Azienda Ospedaliera Universitaria Pisana, University of Pisa, Italy.

Special Issue Introduction

Neurodevelopmental disorders (NDDs) are complex and heterogeneous conditions which may appear difficult to formally conceptualise. They include a broad group of disorders involving a disruption of brain development, which are characterized by cognitive-communicative impairment, adaptive functioning deficits, and overall impaired psychomotor skills. Among other clinically and causally disparate neurological and psychiatric disabilities, NDDs include rare genetic syndromes, congenital neural anomalies, autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), cerebral palsy, and epilepsy. The advances in genetic testing achieved through whole exome and genome sequencing (WES, WGS) have revealed a complex underlying molecular architecture embracing different types of genetic alterations, which span from single nucleotide variants (SNVs) to large chromosomal rearrangements. The difficulties in establishing definite genotype-phenotype correlations, combined with the relevant role played by individual lifestyle and gene-environment interactions in determining disease severity, further complicate the scenario and highlight the growing medical challenge represented by NDDs in modern medicine. So far, ~700 genes have been linked to syndromic and non-syndromic forms of NDD, with the intriguing pathogenic role of noncoding genetic alterations emerging recently. In addition, the better understanding of the molecular pathogenic mechanisms has revealed to be an essential piece of the puzzle towards the development of targeted therapeutic approaches and the improvement of patient management. The aim of this Special Issue is to provide an updated overview of the heterogeneous genetic aspects involved in NDDs through the report of exemplary cases and the review of the most intriguing underlying pathomechanisms. Accordingly, this issue will include Reviews, Mini-Reviews, Original Research/Brief Communication articles and a limited number of case reports (at least 2 patients) of special interest.

Keywords

Neurodevelopmental disorders, genetic, congenital neural anomalies, autism spectrum disorder

Submission Deadline

30 Nov 2024

Submission Information

For Author Instructions, please refer to https://www.oaepublish.com/jtgg/author_instructions
For Online Submission, please login at https://oaemesas.com/login?JournalId=jtgg&SpecialIssueId=569
Submission Deadline: 30 Nov 2024
Contacts: Jixiang Zhao, Assistant Editor, jixiang.zhao@jtggjournal.com

Published Articles

Unraveling the genetic tapestry of neurodevelopmental disorders: a new horizon
Open Access Editorial 15 Aug 2024
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Towards an understanding of the aetiology, genomic landscape and management of Moebius syndrome
Open Access Review 18 Dec 2023
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Epilepsy and electroencephalography in Pitt-Hopkins syndrome
Open Access Original Article 25 Apr 2022
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Developmental and epileptic encephalopathies after negative or inconclusive genetic testing: what is next?
Open Access Review 4 Dec 2021
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Journal of Translational Genetics and Genomics
ISSN 2578-5281 (Online)
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