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Genes
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Genetics and Therapy of Neurodevelopmental Disorders
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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: closed (25 October 2024) | Viewed by 6165

Special Issue Editor

Dr. Himanshu Goel

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

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (3 papers)

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Review

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15 pages, 1268 KiB  
Review
MicroRNA and Rare Human Diseases
by Himanshu Goel and Amy Goel
Genes 2024, 15(10), 1243; https://doi.org/10.3390/genes15101243 - 25 Sep 2024
Cited by 5 | Viewed by 2160
Abstract
Background: The role of microRNAs (miRNAs) in the pathogenesis of rare genetic disorders has been gradually discovered. MiRNAs, a class of small non-coding RNAs, regulate gene expression by silencing target messenger RNAs (mRNAs). Their biogenesis involves transcription into primary miRNA (pri-miRNA), processing by [...] Read more.
Background: The role of microRNAs (miRNAs) in the pathogenesis of rare genetic disorders has been gradually discovered. MiRNAs, a class of small non-coding RNAs, regulate gene expression by silencing target messenger RNAs (mRNAs). Their biogenesis involves transcription into primary miRNA (pri-miRNA), processing by the DROSHA–DGCR8 (DiGeorge syndrome critical region 8) complex, exportation to the cytoplasm, and further processing by DICER to generate mature miRNAs. These mature miRNAs are incorporated into the RNA-induced silencing complex (RISC), where they modulate gene expression. Methods/Results: The dysregulation of miRNAs is implicated in various Mendelian disorders and familial diseases, including DICER1 syndrome, neurodevelopmental disorders (NDDs), and conditions linked to mutations in miRNA-binding sites. We summarized a few mechanisms how miRNA processing and regulation abnormalities lead to rare genetic disorders. Examples of such genetic diseases include hearing loss associated with MIR96 mutations, eye disorders linked to MIR184 mutations, and skeletal dysplasia involving MIR140 mutations. Conclusions: Understanding these molecular mechanisms is crucial, as miRNA dysregulation is a key factor in the pathogenesis of these conditions, offering significant potential for the diagnosis and potential therapeutic intervention. Full article
(This article belongs to the Special Issue Genetics and Therapy of Neurodevelopmental Disorders)
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Other

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11 pages, 564 KiB  
Opinion
The Newborn Screening Programme Revisited: An Expert Opinion on the Challenges of Rett Syndrome
by Jatinder Singh and Paramala Santosh
Genes 2024, 15(12), 1570; https://doi.org/10.3390/genes15121570 - 5 Dec 2024
Viewed by 1175
Abstract
Genomic sequencing has the potential to revolutionise newborn screening (NBS) programmes. In 2024, Genomics England began to recruit for the Generation Study (GS), which uses whole genome sequencing (WGS) to detect genetic changes in 500 genes in more than 200 rare conditions. Ultimately, [...] Read more.
Genomic sequencing has the potential to revolutionise newborn screening (NBS) programmes. In 2024, Genomics England began to recruit for the Generation Study (GS), which uses whole genome sequencing (WGS) to detect genetic changes in 500 genes in more than 200 rare conditions. Ultimately, its purpose is to facilitate the earlier identification of rare conditions and thereby improve health-related outcomes for individuals. The adoption of rare conditions into the GS was guided by four criteria: (1) the gene causing the condition can be reliably detected; (2) if undiagnosed, the rare condition would have a serious impact; (3) early or presymptomatic testing would substantially improve outcomes; and (4) interventions for conditions screened are accessible to all. Rett syndrome (RTT, OMIM 312750), a paediatric neurodevelopment disorder, was not included in the list of rare conditions in the GS. In this opinion article, we revisit the GS and discuss RTT from the perspective of these four criteria. We begin with an introduction to the GS and then summarise key points about the four principles, presenting challenges and opportunities for individuals with RTT. We provide insight into how data could be collected during the presymptomatic phase, which could facilitate early diagnosis and improve our understanding of the prodromal stage of RTT. Although many features of RTT present a departure from criteria adopted by the GS, advances in RTT research, combined with advocacy from parent-based organisations, could facilitate its entry into future newborn screening programmes. Full article
(This article belongs to the Special Issue Genetics and Therapy of Neurodevelopmental Disorders)
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8 pages, 4266 KiB  
Case Report
Expanding the Spectrum of Autosomal Dominant ATP6V1A-Related Disease: Case Report and Literature Review
by Fabio Sirchia, Ivan Taietti, Myriam Donesana, Francesco Bassanese, Andrea Martina Clemente, Eliana Barbato, Alessandro Orsini, Alessandro Ferretti, Gian Luigi Marseglia, Salvatore Savasta and Thomas Foiadelli
Genes 2024, 15(9), 1219; https://doi.org/10.3390/genes15091219 - 18 Sep 2024
Viewed by 1891
Abstract
Background: Developmental and epileptic encephalopathies (DEE) are a group of disorders often linked to de novo mutations, including those in the ATP6V1A gene. These mutations, particularly dominant gain-of-function (GOF) variants, have been associated with a spectrum of phenotypes, ranging from severe DEE and [...] Read more.
Background: Developmental and epileptic encephalopathies (DEE) are a group of disorders often linked to de novo mutations, including those in the ATP6V1A gene. These mutations, particularly dominant gain-of-function (GOF) variants, have been associated with a spectrum of phenotypes, ranging from severe DEE and infantile spasms to milder conditions like autism spectrum disorder and language delays. Methods: We aim to expand ATP6V1A-related disease spectrum by describing a six-year-old boy who presented with a febrile seizure, mild intellectual disability (ID), language delay, acquired microcephaly, and dysmorphic features. Results: Genetic analysis revealed a novel de novo heterozygous pathogenic variant (c.82G>A, p.Val28Met) in the ATP6V1A gene. He did not develop epilepsy, and neuroimaging remained normal over five years of follow-up. Although ATP6V1A mutations have traditionally been linked to severe neurodevelopmental disorders, often with early-onset epilepsy, they may exhibit milder, non-progressive phenotypes, challenging previous assumptions about the severity of ATP6V1A-related conditions. Conclusions: This case expands the known clinical spectrum, illustrating that not all patients with ATP6V1A mutations exhibit severe neurological impairment or epilepsy and underscoring the importance of including this gene in differential diagnoses for developmental delays, especially when febrile seizures or dysmorphic features are present. Broader genotype–phenotype correlations are essential for improving predictive accuracy and guiding clinical management, especially as more cases with mild presentations are identified. Full article
(This article belongs to the Special Issue Genetics and Therapy of Neurodevelopmental Disorders)
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