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Human Hereditary Diseases: Advances in Molecular Genetics, Genomics and Therapeutic Strategies

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 September 2025 | Viewed by 907

Special Issue Editors


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Guest Editor
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
Interests: neurological disorders; genomics; genetics; epigenetics; computational biology; gene therapy
Special Issues, Collections and Topics in MDPI journals
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
Interests: non-coding RNA; epigenetics; genetics; neuroscience; genomics; biochemistry
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Hereditary diseases, caused by genetic mutations passed down through generations, disrupt essential biological processes and affect millions of individuals globally. In appreciation of breakthroughs in molecular genetics and genomics, researchers have gained valuable insights into the causes of these diseases, allowing for the identification of specific genetic variants, as well as the molecular factors and biological pathways they disrupt. Recent advances in single-cell and spatial techniques enable the observation of spatial–temporal changes at the cellular level, providing a more detailed view of disease progression. These advancements are opening doors to innovative therapies that target disease mechanisms at the molecular level, such as CRISPR-based gene editing, antisense oligonucleotide treatments, and precision drugs designed for specific mutations.

This Special Issue invites the submission of research articles, reviews, and perspectives that shed light on the molecular mechanisms and genomic aspects of hereditary diseases, particularly those affecting brain health. Topics of interest include, but are not limited to, the following: the identification of novel genetic mutations and pathways that drive disease; genomic, transcriptomic, and epigenetic studies that reveal new aspects of disease biology; emerging therapies, including gene therapy, RNA-based treatments, and small-molecule drugs tailored to genetic profiles; and in-depth insights into genetic regulation, epigenetics, and their roles in disease onset and progression. By gathering cutting-edge research in these areas, we hope that this Special Issue will support researchers, clinicians, and anyone working to improve therapies and outcomes for patients with genetic disorders.

Dr. Yulin Jin
Dr. Yujing Li
Guest Editors

Manuscript Submission Information

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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.

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Keywords

  • hereditary diseases
  • genetics and genomics
  • molecular mechanism
  • gene regulation
  • therapeutic approach

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Published Papers (1 paper)

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Research

13 pages, 1510 KiB  
Article
The Role of Energy Homeostasis-Associated Gene Expression and Serum Adropin Levels in Patients with Familial Mediterranean Fever
by Durkadin Demir Eksi, Gulay Gulbol Duran, Muhammet Murat Celik, Yunus Emre Eksi and Ramazan Gunesacar
Int. J. Mol. Sci. 2025, 26(5), 2371; https://doi.org/10.3390/ijms26052371 - 6 Mar 2025
Viewed by 527
Abstract
Familial Mediterranean Fever (FMF) is a genetic autoinflammatory disease primarily affecting populations in the Mediterranean region. The pathogenesis of FMF and the roles of various molecules remain unclear. Adropin, a protein encoded by the Energy Homeostasis-Associated Gene (ENHO), is involved in [...] Read more.
Familial Mediterranean Fever (FMF) is a genetic autoinflammatory disease primarily affecting populations in the Mediterranean region. The pathogenesis of FMF and the roles of various molecules remain unclear. Adropin, a protein encoded by the Energy Homeostasis-Associated Gene (ENHO), is involved in energy metabolism and inflammation. This study aimed to explore the relationship between ENHO expression, Adropin levels, and FMF, examining their correlations with disease characteristics. This study included 30 patients clinically diagnosed with FMF and 35 healthy controls. The ENHO expression in peripheral blood mononuclear cells was assessed using a qRT-PCR, and the serum Adropin levels were measured via ELISA. The ENHO expression was significantly elevated in the FMF patients compared to the controls (p = 0.0007), while no significant differences were observed in the serum Adropin levels between the groups (p = 0.81). A correlation analysis revealed a negative association between the ENHO expression and age (r = −0.47, p = 0.009), whereas the serum Adropin levels were positively correlated with age, disease onset, and diagnostic delay (p < 0.05). No significant associations were found between the ENHO expression and Adropin levels or FMF clinical features. These findings suggest that increased ENHO expression may play a role in FMF pathophysiology, potentially as a compensatory mechanism. The correlation between Adropin levels and disease onset indicates a potential protective role. Further studies are needed to confirm these findings. Full article
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