Genetics and Genomics of Rare Disorders

Dear Colleagues,

Since the first generation of DNA sequences, genetic analyses have gradually been introduced in clinical practice to support the diagnosis of rare disorders. Initially, loci and gene identification allowed geneticists to estimate transmission patterns and define recurrence risks of genetic Mendelian disorders.

To date, innovative molecular and cytogenetic technologies (i.e., next-generation sequencing, genomic arrays, and epigenetic analyses) have been able to support diagnostic protocols, providing a timely diagnosis and early assistance. At the same time, the discovery of novel genetic etiologies for rare disorders is very important for the improvement of the diagnosis and genotype–phenotype definition, also supporting the development of novel therapies.

This Topical Collection, entitled “Genetics and Genomics of Rare Disorders”, aims to present molecular and clinical aspects of rare genetic disorders. We encourage submissions of reviews, original articles, and communications covering various aspects of “Genetics and Genomics of Rare Disorders”. These include aspects related, but not limited, to the following topics: novel diagnostic approaches, genotype–phenotype correlations, application of research data into clinical practice, epigenetic approaches to rare disorders, functional studies, and animal models.

Dr. Stefania Zampatti
Dr. Emiliano Giardina
Collection 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. Genes 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 2600 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.