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 973
Special Issue Editors
Interests: neurological disorders; genomics; genetics; epigenetics; computational biology; gene therapy
Special Issues, Collections and Topics in MDPI journals
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
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
- hereditary diseases
- genetics and genomics
- molecular mechanism
- gene regulation
- therapeutic approach
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