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Perspectives of Molecular Genetics and Genomics in Human Mendelian Diseases
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Perspectives of Molecular Genetics and Genomics in Human Mendelian Diseases

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 20 October 2025 | Viewed by 1396

Special Issue Editor

Dr. Marta Rusmini

E-Mail Website
Guest Editor
Laboratory of Genetics and Genomics of Rare Diseases, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy
Interests: genomics; human rare diseases; omics; bioinformatics

Special Issue Information

Dear Colleagues,

The fields of molecular genetics and genomics have revolutionized our understanding of human diseases by revealing the genetic basis that drives complex biological processes. As Mendelian disorders are often rare and not completely understood, molecular genetics and genomics could provide insights into the mechanisms of disease onset, progression, and therapeutic responses.

Over the past few decades, technological advances such as next-generation sequencing (NGS), genome editing, and large-scale genomic data analysis have contributed to speeding up and deepening knowledge of these diseases, as well as opening new horizons for precision medicine.

This Special Issue aims to explore current perspectives of molecular genetics and genomics in relation to human Mendelian diseases, showcasing recent advances, emerging challenges, and future directions in this rapidly evolving field.

In this Special Issue, original research articles and reviews are welcome on areas that may include (but are not limited to) the following:

  • Functional genomics (genomics, transcriptomics, metabolomics, proteomics, etc.) applied to the discovery of the biological processes of human diseases;
  • Multi-omics approaches;
  • Discovery of genetic and genomic biomarkers for disease susceptibility and progression;
  • Gene–environment interactions in disease manifestation;
  • Non-coding DNA and RNA, miRNA, and lncRNA involvement in human diseases;
  • Application of computational genomics in the interpretation of genetic variants;
  • CRISPR-Cas technologies and their application in disease models and gene therapy.

I look forward to receiving your contributions.

Dr. Marta Rusmini
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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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

  • functional genomics
  • omics
  • genetic disease
  • human
  • molecular mechanisms
  • genome editing
  • biomarkers
  • computational genomics

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

Published Papers (2 papers)

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21 pages, 2386 KiB  
Article
GWAS by Subtraction to Disentangle RBD Genetic Background from α-Synucleinopathies
by Andrea Gaudio, Fabio Gotta, Clarissa Ponti, Alessandro Geroldi, Andrea La Barbera and Paola Mandich
Int. J. Mol. Sci. 2025, 26(8), 3578; https://doi.org/10.3390/ijms26083578 - 10 Apr 2025
Viewed by 236
Abstract
Rapid eye movement (REM) sleep behavior disorder (RBD) is a parasomnia characterized by loss of muscle atonia and abnormal behaviors occurring during REM sleep. Idiopathic RBD (iRBD) is recognized as the strongest prodromal hallmark of α-synucleinopathies, with an established conversion rate to a [...] Read more.
Rapid eye movement (REM) sleep behavior disorder (RBD) is a parasomnia characterized by loss of muscle atonia and abnormal behaviors occurring during REM sleep. Idiopathic RBD (iRBD) is recognized as the strongest prodromal hallmark of α-synucleinopathies, with an established conversion rate to a neurodegenerative condition that reaches up to 96.6% at 15 years of follow-up. Moreover, RBD-converters display a more severe clinical trajectory compared to those that do not present with RBD. However, the extent to which iRBD represents a distinct genetic entity or an early manifestation of neurodegeneration remains unclear. To address this, we applied Genomic Structural Equation Modeling (GenomicSEM) using a GWAS-by-subtraction approach to disentangle the genetic architecture of iRBD from the shared genomic liability across α-synucleinopathies. Our findings highlight the SNCA locus as a key genetic regulator of iRBD susceptibility. While iRBD exhibits a partially distinct genetic signature, residual genomic overlap with neurodegenerative traits suggests that its genetic architecture exists along a continuum of α-synucleinopathy risk. In this scenario, the associations with neuroanatomical correlates may serve as early indicators of a trajectory toward future neurodegeneration. These findings provide a framework for identifying biomarkers that could aid in disease stratification and risk prediction, potentially improving early intervention strategies. Full article
(This article belongs to the Special Issue Perspectives of Molecular Genetics and Genomics in Human Mendelian Diseases)
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17 pages, 2978 KiB  
Article
Unraveling the Complex Genomic Interplay of Sickle Cell Disease Among the Saudi Population: A Case-Control GWAS Analysis
by Ali Alghubayshi, Dayanjan Wijesinghe, Deemah Alwadaani, Farjah H. Algahtani, Salah Abohelaika, Mohsen Alzahrani, Hussain H. Al Saeed, Abdullah Al Zayed, Suad Alshammari, Yaseen Alhendi, Barrak Alsomaie, Abdulmonem Alsaleh and Mohammad A. Alshabeeb
Int. J. Mol. Sci. 2025, 26(6), 2817; https://doi.org/10.3390/ijms26062817 - 20 Mar 2025
Viewed by 883
Abstract
Sickle cell disease (SCD) is a severe inherited blood disorder characterized by abnormal hemoglobin (HbS) that leads to varying degrees of severity, including chronic hemolysis, episodic vaso-occlusion, and damage to multiple organs, causing significant morbidity and mortality. While SCD is a monogenic disease, [...] Read more.
Sickle cell disease (SCD) is a severe inherited blood disorder characterized by abnormal hemoglobin (HbS) that leads to varying degrees of severity, including chronic hemolysis, episodic vaso-occlusion, and damage to multiple organs, causing significant morbidity and mortality. While SCD is a monogenic disease, its complications are influenced by polygenic factors. SCD prevalence is notably high in regions including the Middle East, with Saudi Arabia reporting significant cases, particularly in the Eastern Province. Most genetic factors associated with SCD outcomes have been identified in populations predominantly from Africa or of African ancestry. This study aims to identify genetic variants that characterize Saudi SCD patients with the potential to influence disease outcomes in this population. A multicenter case-control genome-wide association study (GWAS) was conducted involving 350 adult Saudi SCD patients and 202 healthy controls. Participants were genotyped using the Affymetrix Axiom array, covering 683,030 markers. Rigorous quality control measures were applied to ensure data integrity. Fisher’s exact was used to identify genetic variants with a significant difference in allele frequency (p < 5 × 10−8). Functional annotations and regulatory functions of variants were determined using the Ensembl Variant Effect Predictor (VEP) and RegulomeDB databases. The GWAS identified numerous significant genetic variants characterizing SCD cases in the Saudi population. These variants, distributed across multiple chromosomes, were found in genes with known functional consequences. A substantial proportion of the markers were detected in the olfactory receptor cluster, TRIM family, and HBB locus genes. Many of the identified genes were reported in previous studies showing significant associations with various SCD outcomes, including hemoglobin regulation, inflammation, immune response, and vascular function. The findings highlight the genetic complexity underlying SCD and its clinical manifestations. The identified variants suggest potential molecular biomarkers and therapeutic targets, enhancing our understanding of the molecular basis of SCD in the Saudi population. This is the first genetic analysis characterizing SCD patients compared to healthy individuals, uncovering genetic markers that could serve as diagnostic biomarkers and therapeutic targets. Given the known molecular mechanisms of the detected genetic loci, these provide a foundation for precision medicine in SCD management, highlighting the need for further studies to validate these results and explore their clinical implications. Full article
(This article belongs to the Special Issue Perspectives of Molecular Genetics and Genomics in Human Mendelian Diseases)
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