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: closed (15 May 2024) | Viewed by 2114
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
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Keywords
- gene identification
- disease-causing mutations
- genotype–phenotype correlations
- ultrarare disease
- concurrent diseases
- pathophysiological mechanisms
- segregation analysis
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