Genetics and Genomics of Rare Disorders Volume II
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: 25 July 2024 | Viewed by 2784
Special Issue Editor
Interests: genetic counseling; neurogenetics; pharmacogenetics; rare disorders; genetic diagnosis
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
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 in the diagnosis and genotype–phenotype definitions, also supporting the development of novel therapies.
This Special Issue, entitled “Genetics and Genomics of Rare Disorders Volume II”, aims to present molecular and clinical aspects of rare genetic disorders. We encourage the submissions of reviews, original articles, and communications covering various aspects of the 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
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. 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.
Keywords
- rare variants
- next-generation sequencing
- genotype–phenotype correlations
- rare hereditary disorders
- diagnoses
Planned Papers
The below list represents only planned manuscripts. Some of these manuscripts have not been received by the Editorial Office yet. Papers submitted to MDPI journals are subject to peer-review.
Title: A Novel COL4A5 pathogenic variant joins the dots in a family with a synchronous diagnosis of Alport Syndrome and Polycystic Kidney Disease
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Title: Dual molecular diagnoses of Cutis Laxa and Noonan Syndrome in Rwandan Individuals: A differential analysis of the facial dysmorphism with GestaltMatcher
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Title: Patient decision-making for genetic testing of rare and common disorders: A scoping review of the literature
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