Dear Colleagues,

The constant improvement of sequencing procedures is increasing our comprehension of the genetics that underlies rare diseases. However, for most diseases understanding how genomic variants lead to pathological phenotypes remains a tough challenge. Studies in patients aimed to validate the effects of mutations are almost prohibitive for ethical and technical reasons, and especially for human sample accessibility. Exploiting animal models to carry out experiments that cannot be performed in humans, represents an excellent alternative to dissect the molecular pathways affected in each disorder and to select targets genetically linked to the disease, which can lead to novel therapeutic approaches. The improvement of even more powerful and sophisticate genetic and molecular tool kits for disease model organisms, allows to efficiently validate novel variants found in patients and permit to establish genotype-phenotype correlations that are essential for deciphering the pathogenesis. Finally, animal disease models can serve as pre-clinical systems for testing novel therapeutic strategies, as well as conventional drugs, before starting clinical trials on humans.

The goal of our current Special Issue in Rare-Disease Modeling and Its role in Human Health is to collect high quality publications, as either original articles or updated reviews, on how animal models unveil genetic and molecular mechanisms underpinning various rare diseases. We also welcome manuscripts that describe the use of unconventional, as well as more traditional animal models, for the identification of targets, biomarkers or novel methods for the treatment of rare diseases.

Prof. Dr. Giovanni Cenci
Dr. Gianluca Cestra
Prof. Dr. Laura Ciapponi
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.

• rare diseases
• model organisms
• human genetics
• monogenic diseases
• disease treatments
• pathogenic variants