Exploring the Genetics in Rare Diseases: A Genomic Odyssey
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".
Deadline for manuscript submissions: 20 February 2026 | Viewed by 796
Special Issue Editor
Interests: clinical genetics in rare disease; next generation sequencing; WGS; WES; long read sequencing; transcriptomics; scSeq; DNA engineering; functional analysis; liquid biopsies; prediction software; protein 3D structure
Special Issue Information
Dear Colleagues,
Rare diseases, often defined as conditions affecting fewer than one in 2000 individuals, pose significant challenges to healthcare systems, researchers, and patients alike. Despite their low prevalence, the collective impact of rare diseases is profound, affecting millions worldwide. With over 7000 identified rare diseases, of which a majority are genetic in origin, understanding their underlying mechanisms is crucial for developing effective diagnostic tools and treatments.
This Special Issue on the genetics of rare diseases aims to shed light on the complexities of these conditions through the lens of genomic research. Advances in genomic technologies, such as next-generation sequencing, single-cell sequencing, and transcriptomics, have revolutionized our ability to identify genetic variants linked to rare diseases. These technologies not only facilitate the discovery of novel genetic variants but also enhance our understanding of the biological pathways involved, paving the way for targeted therapies.
A significant focus of this issue is on the identification and characterization of pathogenic variants. Original research articles will showcase groundbreaking studies that reveal new variants or combinations thereofassociated with specific rare diseases, enriching our genetic knowledge and potentially leading to improved diagnostic accuracy. Furthermore, these contributions will highlight the heterogeneity of genetic manifestations within diseases that were once thought to be uniform, illustrating the need for personalized approaches in treatment.
Technological advancements are critical, but equally important is the application of these findings in clinical settings. Manuscripts in this issue will explore the translation of genetic discoveries into clinical practice. Topics will include genetic counseling, the development of biomarker-driven therapies, and strategies for integrating genomic data into routine clinical workflows. By emphasizing these aspects, we aim to bridge the gap between research and practice, ensuring that patients benefit from the latest scientific insights.
The scope of a Special Issue on the genetics of rare diseases includes the following key areas:
- Genetic discoveries: original research articles detailing novel genetic variants or pathways implicated in specific rare diseases.
- Technological advances: studies highlighting innovative genomic techniques (e.g., NGS sequencing, CRISPR, scSeq, software, and databases for interpretation) that enhance the understanding of rare diseases.
- Clinical implications: discussions on the translation of genetic findings into clinical practice, including variant interpretation, diagnosis, treatment options, and personalized medicine approaches.
- Population genetics: exploration of the prevalence and distribution of rare genetic variants across different populations and their implications for disease risk.
- Ethical considerations: discussions on the ethical challenges and considerations in genetic research and testing for rare diseases.
- Patient advocacy and engagement: articles highlighting the role of patient organizations in facilitating research and raising awareness about rare genetic disorders.
- Case studies: detailed case reports that illustrate the complexities of diagnosing and managing rare diseases from a genetic perspective.
- Collaborative research efforts: insights into global collaborations and consortia aimed at understanding and treating rare genetic disorders.
This Special Issue aims to bring together diverse perspectives and cutting-edge research to advance the field of rare disease genetics.
Dr. Klaus Brusgaard
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.
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Keywords
- novel discoveries in rare disorders
- polygenic risk scores
- mosaicism
- protein interaction
- tools utilized to engineer DNA
- somatic variants
- patient advocacy
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