Current Diagnostics for Rare and Ultrarare Diseases
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: 15 May 2024 | Viewed by 187
Special Issue Editor
2. Division of Human Genetics, Medical University of Innsbruck, Anichstrasse 35, 6020 Innsbruck, Austria
Interests: genome sequencing; pediatric gastroenterology; hepatology; skeletal dysplasia; skeletal disorders; retinal disorders; corneal dystrophies
Special Issue Information
Dear Colleagues,
The majority of an estimated eight thousand rare and ultrarare monogenic disorders have their onset in infancy and childhood. The repertoire of high-throughput genetic testing methods in routine and research is constantly expanding to include optical genomic mapping and short-read and long-read genome sequencing in all pediatric subspecialties. The finding of more than one genetic disease entity in the same patient or within a given family is an increasingly identified phenomenon, often adding to the observed intra- and interfamilial variability of the natural disease course and to the effect of therapeutic interventions. The interpretation of identified variants represents the main task in this field of human genetics. The reporting of single case reports and of case series with detailed clinical findings and accurate genetic variant description is mandatory in order to improve the diagnostic process and management of patients with such rare disorders.
We welcome original research articles, case reports, and reviews addressing this topic, including the reporting of novel gene–disease associations and highly unusual variants and the segregation of one or more disorders in families.
Dr. Andreas R. Janecke
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
- gene identification
- disease-causing mutations
- genotype–phenotype correlations
- ultrarare disease
- concurrent diseases
- pathophysiological mechanisms
- segregation analysis
