CRISPR-Engineered Mouse Models for Unraveling Rare Diseases
A special issue of Biology (ISSN 2079-7737). This special issue belongs to the section "Medical Biology".
Deadline for manuscript submissions: 31 July 2026
Special Issue Editor
Special Issue Information
Dear Colleagues,
The study of rare human diseases, often caused by subtle single-gene mutations, presents significant challenges due to low patient prevalence and complex, poorly understood pathophysiology. Genetically engineered mouse models, particularly those generated using the CRISPR/Cas9 system, have become an indispensable and powerful tool for mimicking the genetic and clinical hallmarks of these conditions. The precision of CRISPR/Cas9 enables the faithful recapitulation of specific patient mutations (e.g., knock-in point mutations) and the rapid generation of relevant mouse models called “avatars”.
This Special Issue invites contributions that showcase the cutting-edge application of CRISPR/Cas9-derived mouse models to provide deep mechanistic insights into human rare diseases. The primary focus is on how these sophisticated models are accelerating understanding of disease mechanisms, identifying novel therapeutic targets (e.g., gene therapy and pharmacological interventions), and performing rigorous preclinical testing.
This Special Issue invites the submission of original research articles and comprehensive reviews that employ CRISPR/Cas9-engineered mouse models to address the pathophysiology of rare human conditions, thereby advancing translational research.
Both original research articles and reviews are welcome, and all rare human diseases may be included.
Prof. Dr. Manuel A. Sanchez-Martin
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 250 words) can be sent to the Editorial Office for assessment.
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. Biology 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 2700 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
- mouse models
- CRISPR/Cas9
- rare disease modeling
- phenotyping
- translational research
- svatar mice
Benefits of Publishing in a Special Issue
- Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
- Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
- Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
- External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
- Reprint: MDPI Books provides the opportunity to republish successful Special Issues in book format, both online and in print.
Further information on MDPI's Special Issue policies can be found here.
