Multiple Molecular Diagnoses in Rare Disease through Massive Parallel Sequencing Approach
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 (25 November 2022) | Viewed by 12395
Special Issue Editors
Interests: dysmorphology/syndromology; overgrowth syndromes; genetics; genotype-phenotype correlation; whole genome sequencing; mutation; genetic counselling; recurrence risk; rare disease; oncogenetics; familial cancer genetics; personalised medicine; target therapy
Special Issue Information
Dear Colleagues,
We would like to invite you to participate in this Special Issue, “Multiple molecular diagnoses in Rare Diseases through massive parallel sequencing approach”.
More than 6000 rare diseases have been described so far. On the whole, 80% of rare diseases are of genetic origin and are often chronic and life-threatening. Among genetic rare diseases, almost 70% start in childhood. Rare diseases are characterised by a wide diversity of symptoms and signs not only among different conditions but also between patients suffering from the same disease. Due to the low prevalence of each disorder, medical expertise is rare, knowledge is scarce, care opportunities are inadequate, and research is limited. Whole exome sequencing (trio-WES) analysis has substantially improved the chance of obtaining a genetic diagnosis in rare and ultra-rare diseases. Moreover, in approximately 5% of cases, WES allows the dissection of complex phenotypes as the result of concomitant pathogenic variants involving two or multiple genes (dual molecular diagnoses) as proven by the massive use of WES in selected cohorts of “partially solved” patients (i.e., presentations that only in part are explained by one single identified genetic variant), which has provided evidence that at least one third of cases reported as ‘phenotypic expansion’ actually represent blended phenotypes due to concomitant co-occurring pathogenic variants (multilocus pathogenetic variants).
The purpose of this Special Issue is to host particularly interesting complex case reports solved by WES with final multiple molecular diagnoses, as well as research and review papers on rare diseases and complex phenotypes in order to assess the real effectiveness of WES in solving complex diagnoses and to eventually stress pitfalls in this approach solved by alternative strategies (WGS, mDNA signature). Great attention will be given to accurate genotype–phenotype correlation in multiple molecular diagnoses in solving complex phenotypes.
Dr. Manuela Priolo
Dr. Marco Tartaglia
Guest Editors
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Keywords
- dual molecular diagnosis
- whole exome sequencing
- distinct vs. overlapping phenotypes
- orphan diseases
- complex phenotypes
- whole genome sequencing
- blended phenotypes
- multilocus pathogenetic variants
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