Genetics and Therapy of Neurodevelopmental 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: 25 October 2024 | Viewed by 68

Special Issue Editor


E-Mail Website
Guest Editor
1. Hunter Genetics, Waratah, NSW, Australia
2. School of Medicine and Public Health, The University of Newcastle, Callaghan, Australia
Interests: intellectual disability; neurodevelopmental disorders; genotype; phenotype; clinical genetics

Special Issue Information

Dear Colleagues,

Over the past few decades, advancements in genetics have shed light on the underlying molecular mechanisms of neurodevelopmental disorders (NDDs), paving the way for targeted therapeutic interventions. This Special Issue explores the latest research findings and therapeutic strategies aimed at addressing the complexities of NDDs. The intersection of genetics and therapy holds promise for advancing our understanding and management of neurodevelopmental disorders. This Special Issue serves as a testament to the ongoing efforts to translate scientific discoveries into meaningful clinical benefits for individuals with NDDs and their families.

We welcome reviews, original articles, and short communications covering all areas related to monogenic neurodevelopmental syndromes. We seek manuscripts that explore genotype–phenotype associations, molecular mechanisms, precise phenotype delineation/expansion, and clinical trial readiness programs for such disorders. We also encourage submissions demonstrating partnerships with the patient and family community, and studies including populations that have previously been under-represented in genomics research.

Dr. Himanshu Goel
Guest Editor

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

  • neurodevelopmental disorders
  • monogenic
  • genomics
  • therapy
  • genetic heterogeneity
  • functional genomics
  • copy number variations (CNVs)
  • epigenetics

Published Papers

This special issue is now open for submission.
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