Rare Diseases—Molecular Mechanisms and Therapeutic Strategies (V)
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".
Deadline for manuscript submissions: closed (30 August 2023) | Viewed by 2358
Special Issue Editors
Interests: protein stability; bioinformatics; PMM2-CDG; Fabry disease; pharmacological chaperones
Special Issues, Collections and Topics in MDPI journals
Interests: rare disorders of chromatin regulators; Rubinstein-Taybi and related syndromes of the epigenetic machinery; chromosomal/genomic instability syndromes with cancer predisposition; imprinting disorders affecting growth; neurodevelopmental imprinting disorders; genomic disorders; MARK4 gene; c-kit gene
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
A rare disease is any disease that affects a small percentage of the population. The quantification of “small” is variable and represents an artificial border that changes with the increasing diagnostic rate driven by the application of next generation phenotypic softwares and high throughput whole Exome and Whole Genome sequencing in the clinical practice and research. More than 6000 rare/ultrarare diseases have been described. Pathogenic variants ranging from single nucleotide variants (SNVs) to structural variants (SVs) are increasingly detected and interpreted, the underlying pathomechanisms disclosed by in silico, in vitro and in vivo modeling, targeted pharmacological therapeutics is delivered to patients and “gene therapy” of several rare diseases is showing promise in clinical trials. Third generation sequencing technologies, such as Long Reads Sequencing, besides revealing methylation differences, are establishing the golden standard for tackling and solving complex genome rearrangements, identifying disease-causing variants missed by prior genetic testing, needed for personalized patient management.
We seek papers that look into rare diseases with multi-omics, biochemical, or bioinformatic approaches. Papers addressing pharmacological and gene therapies for rare diseases are especially welcome.
Prof. Dr. Maria Vittoria Cubellis
Prof. Dr. Lidia Larizza
Guest Editors
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Keywords
- rare genetic diseases
- clinical and molecular diagnosis
- pathogenic variants
- integrated omics approaches
- transcriptomics
- epigenomics
- in vitro and in vivo disease modeling
- bioinformatics
- drugs
- molecular chaperones
- drug repositioning
- gene therapy
- precision medicine
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