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Biomedicines
Special Issues
New Advances in Neurodevelopmental Disorders: From Genetics to Mechanisms
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New Advances in Neurodevelopmental Disorders: From Genetics to Mechanisms

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular Genetics and Genetic Diseases".

Deadline for manuscript submissions: closed (30 June 2023) | Viewed by 5152

Special Issue Editors

Dr. Madelyn A. Gillentine

E-Mail Website
Guest Editor
Molecular Laboratory, Seattle Children’s Hospital, Seattle, WA, USA
Interests: genetics; neurodevelopmental disorders; exomes; genomes; sequencing; copy number variation; developmental delay; intellectual disability; autism spectrum disorder
Dr. Jennifer M. Bain

E-Mail Website
Guest Editor
Division of Child Neurology, Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA
Interests: neurology; genetics; neurodevelopmental; autism

Special Issue Information

Dear Colleagues,

Neurodevelopmental disorders (NDDs) have proven to be genetically and phenotypically heterogeneous. Many groups have published novel NDD candidate genes from large cohorts, but the lack of understanding of the pathomechanisms for these genetic variants has created a clinical bottleneck. Currently, we have a significantly stronger understanding of the genetics of NDDs compared with molecular mechanisms. Furthermore, we need further information on the clinical phenotypes of individuals with these novel genetic variants to better characterize individual NDDs. With a better understanding of both the molecular mechanisms and phenotypic spectra, targeted therapeutics may become more available. Addressing the gaps between genomics and the clinic is critical for patient care.

This Special Issue of Biomedicines will focus on the data necessary for understanding the full picture of NDDs. This includes primary research and/or review articles focused on molecular or animal studies modeling specific disorders, deep genotype-phenotype analyses, and novel ways to understand the genetics of NDDs.

Dr. Madelyn A. Gillentine
Dr. Jennifer M. Bain
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. Biomedicines 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
  • genetics
  • molecular mechanisms
  • genotype-phenotype correlation
  • autism spectrum disorder
  • developmental delay/intellectual disability
  • exome/genome sequencing
  • novel candidate genes
  • disease model

Published Papers (2 papers)

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Research

19 pages, 2941 KiB  
Article
Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models
by Hamid Meziane, Marie-Christine Birling, Olivia Wendling, Sophie Leblanc, Aline Dubos, Mohammed Selloum, Guillaume Pavlovic, Tania Sorg, Vera M. Kalscheuer, Pierre Billuart, Frédéric Laumonnier, Jamel Chelly, Hans van Bokhoven and Yann Herault
Biomedicines 2022, 10(12), 3148; https://doi.org/10.3390/biomedicines10123148 - 06 Dec 2022
Cited by 1 | Viewed by 1608
Abstract
Major progress has been made over the last decade in identifying novel genes involved in neurodevelopmental disorders, although the task of elucidating their corresponding molecular and pathophysiological mechanisms, which are an essential prerequisite for developing therapies, has fallen far behind. We selected 45 [...] Read more.
Major progress has been made over the last decade in identifying novel genes involved in neurodevelopmental disorders, although the task of elucidating their corresponding molecular and pathophysiological mechanisms, which are an essential prerequisite for developing therapies, has fallen far behind. We selected 45 genes for intellectual disabilities to generate and characterize mouse models. Thirty-nine of them were based on the frequency of pathogenic variants in patients and literature reports, with several corresponding to de novo variants, and six other candidate genes. We used an extensive screen covering the development and adult stages, focusing specifically on behaviour and cognition to assess a wide range of functions and their pathologies, ranging from basic neurological reflexes to cognitive abilities. A heatmap of behaviour phenotypes was established, together with the results of selected mutants. Overall, three main classes of mutant lines were identified based on activity phenotypes, with which other motor or cognitive deficits were associated. These data showed the heterogeneity of phenotypes between mutation types, recapitulating several human features, and emphasizing the importance of such systematic approaches for both deciphering genetic etiological causes of ID and autism spectrum disorders, and for building appropriate therapeutic strategies. Full article
(This article belongs to the Special Issue New Advances in Neurodevelopmental Disorders: From Genetics to Mechanisms)
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16 pages, 2371 KiB  
Article
Estimating the Prevalence of De Novo Monogenic Neurodevelopmental Disorders from Large Cohort Studies
by Madelyn A. Gillentine, Tianyun Wang and Evan E. Eichler
Biomedicines 2022, 10(11), 2865; https://doi.org/10.3390/biomedicines10112865 - 09 Nov 2022
Cited by 4 | Viewed by 2775
Abstract
Rare diseases impact up to 400 million individuals globally. Of the thousands of known rare diseases, many are rare neurodevelopmental disorders (RNDDs) impacting children. RNDDs have proven to be difficult to assess epidemiologically for several reasons. The rarity of them makes it difficult [...] Read more.
Rare diseases impact up to 400 million individuals globally. Of the thousands of known rare diseases, many are rare neurodevelopmental disorders (RNDDs) impacting children. RNDDs have proven to be difficult to assess epidemiologically for several reasons. The rarity of them makes it difficult to observe them in the population, there is clinical overlap among many disorders, making it difficult to assess the prevalence without genetic testing, and data have yet to be available to have accurate counts of cases. Here, we utilized large sequencing cohorts of individuals with rare, de novo monogenic disorders to estimate the prevalence of variation in over 11,000 genes among cohorts with developmental delay, autism spectrum disorder, and/or epilepsy. We found that the prevalence of many RNDDs is positively correlated to the previously estimated incidence. We identified the most often mutated genes among neurodevelopmental disorders broadly, as well as developmental delay and autism spectrum disorder independently. Finally, we assessed if social media group member numbers may be a valuable way to estimate prevalence. These data are critical for individuals and families impacted by these RNDDs, clinicians and geneticists in their understanding of how common diseases are, and for researchers to potentially prioritize research into particular genes or gene sets. Full article
(This article belongs to the Special Issue New Advances in Neurodevelopmental Disorders: From Genetics to Mechanisms)
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