Genetic Basis of - and Biomarker Exploration in - Neurodevelopmental and Psychiatric 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 April 2023) | Viewed by 3275

Special Issue Editors

Department of Biomedical Sciences, Cooper Medical School of Rowan University, Camden, NJ 08103, USA
Interests: epilepsy; substance use disorder; psychiatric disorders; pharmacogenetics; complex trait; genetic risk; animal model
Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA
Interests: pharmacogenomics; transcriptomics; substance use disorders; opioid use disorder; single cell techniques; bioinformatics
Department of Biomedical Sciences, Cooper Medical School of Rowan University, Camden, NJ 08103, USA
Interests: human genetics; cell and molecular neurobiology; neuroanatomy; epilepsy; substance abuse; hypoxic gene expression
Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA
Interests: neurogenetics; bioinformatics; statistical genetics; behavioral pharmacology; single cell/nuclei; psychiatric disease; addiction; neurodevelopmental; obesity
Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA
Interests: genetics; pharmacogenetics; psychotic disorders; addictions; transcriptomics

Special Issue Information

Dear Colleagues,

This Special Issue is focused on the discovery of biomarkers for neurodevelopmental and psychiatric disorders. Incomplete understanding of the biological basis of these conditions continues to hinder the development of effective treatment for patients. However, even in the absence of further insight into pathophysiology, the establishment of validated biomarkers may aid in the estimation of risk, diagnosis, and prognosis. Biomarkers may even provide insight into pathophysiology and treatment. In particular, molecular biomarkers comprise large diverse sets of molecules that allow highly personalized characterization of individual patients. Variations in genomes, epigenomes, transcriptomes, proteomes, and metabolomes are all under investigation as biomarkers, and advances in technology are facilitating many of these discovery efforts. Massive-scale methods of molecular analysis in large numbers of patients, together with novel biostatistical procedures, are providing unprecedented levels of data and insight into brain function. New approaches involving single-cell omics are proving particularly valuable and are growing in use to complement and extend more conventional methods such as genome-wide association analysis, next-generation sequencing and translational research involving engineered cell lines and animal models. All of these approaches have the potential to discover molecules that reflect aspects of disorder pathology.

For this Special Issue, we encourage the submission of unpublished original manuscripts (research articles or short communications) relevant to the development of molecular biomarkers for a wide range of neurodevelopmental and psychiatric disorders, including but not limited to addiction, anxiety, autism spectrum, bipolar disorder, depression, epilepsy, and schizophrenia. Recent advances in all aspects related to biomarker development and validation are appropriate, including but not limited to genomics: whole exome sequencing, whole genome sequencing; epigenomics: ATAC-sequencing, bisulfite sequencing; transcriptomics: bulk or single cell/single nucleus RNA sequencing; and proteomics: high-throughput methods for isolation and characterization linking immunoprecipitation with HPLC/MS. Studies involving human postmortem brain and animal models are also appropriate, as are secondary analyses of primary datasets. We anticipate that the collection of papers in this Special Issue will have a strong impact on the course of research related to complex neurodevelopmental and psychiatric disorders.

Prof. Dr. Thomas N. Ferraro
Prof. Dr. Richard C. Crist
Prof. Dr. Russell J. Buono
Prof. Dr. Benjamin C. Reiner
Prof. Dr. Wade H. Berrettini
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

  • psychiatric disorder
  • neurodevelopmental disorder
  • substance use disorder
  • addiction
  • psychosis
  • epilepsy
  • comorbidity
  • genome
  • transcriptome
  • proteome
  • metabolome
  • gene variant
  • molecular marker
  • genetic risk
  • bioinformatic
  • single nucleotide polymorphism
  • animal model
  • null mutant
  • knock-in
  • knockout

Published Papers (2 papers)

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Research

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11 pages, 1375 KiB  
Article
Metabolomic Profiling Reveals Common Metabolic Alterations in Plasma of Patients with Toxoplasma Infection and Schizophrenia
by Emelia Osman, Anis Safirah Mohammad Zahariluddin, Shalisah Sharip, Zulkarnain Md Idris and Jen Kit Tan
Genes 2022, 13(8), 1482; https://doi.org/10.3390/genes13081482 - 19 Aug 2022
Cited by 3 | Viewed by 1661
Abstract
Toxoplasma gondii is an opportunistic protozoan parasite known to affect the human brain. The infection has been associated with an increased incidence of schizophrenia; however, the link between the two conditions remains unclear. This study aimed to compare the plasma metabolome of schizophrenia [...] Read more.
Toxoplasma gondii is an opportunistic protozoan parasite known to affect the human brain. The infection has been associated with an increased incidence of schizophrenia; however, the link between the two conditions remains unclear. This study aimed to compare the plasma metabolome of schizophrenia and non-schizophrenia subjects with or without Toxoplasma infection. Untargeted metabolomic profiling was carried out by liquid chromatography-mass spectrometry. Elevation of the α-hydroxyglutaric acid level and reduced adenosine monophosphate, inosine, hypoxanthine and xanthine were found in the subjects with either toxoplasmosis or schizophrenia alone. These results suggest that purine catabolism is a common metabolic alteration in Toxoplasma infection and schizophrenia. The roles of these metabolites on the pathogenesis of schizophrenia in relation to Toxoplasma infection warrant further studies. Full article
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Review

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13 pages, 821 KiB  
Review
DOCK3-Associated Neurodevelopmental Disorder—Clinical Features and Molecular Basis
by Matthew S. Alexander and Milen Velinov
Genes 2023, 14(10), 1940; https://doi.org/10.3390/genes14101940 - 14 Oct 2023
Viewed by 1045
Abstract
The protein product of DOCK3 is highly expressed in neurons and has a role in cell adhesion and neuronal outgrowth through its interaction with the actin cytoskeleton and key cell signaling molecules. The DOCK3 protein is essential for normal cell growth and migration. [...] Read more.
The protein product of DOCK3 is highly expressed in neurons and has a role in cell adhesion and neuronal outgrowth through its interaction with the actin cytoskeleton and key cell signaling molecules. The DOCK3 protein is essential for normal cell growth and migration. Biallelic variants in DOCK3 associated with complete or partial loss of function of the gene were recently reported in six patients with intellectual disability and muscle hypotonia. Only one of the reported patients had congenital malformations outside of the CNS. Further studies are necessary to better determine the prevalence of DOCK3-associated neurodevelopmental disorders and the frequency of non-CNS clinical manifestations in these patients. Since deficiency of the DOCK3 protein product is now an established pathway of this neurodevelopmental condition, supplementing the deficient gene product using a gene therapy approach may be an efficient treatment strategy. Full article
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