Rare Diseases—Molecular Mechanisms and Therapeutic Strategies (V)

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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• 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