Special Issue "Rare Monogenic Diseases: Molecular Pathophysiology and Novel Therapies"
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 (15 September 2021) | Viewed by 16990
Interests: frataxin; Friedreich’s ataxia; mitochondria; programmed cell death; molecular medicine; experimental therapeutics
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(This is a new joint type of Special Issue belongs to IJMS journal and Encyclopedia platfrom, you can get more information from https://encyclopedia.pub about Encyclopedia platfrom)
Most rare diseases we know arise from single gene mutations. In fact, the number of rare monogenic diseases is growing continuously, and to date, near 4000 single-gene inherited disorders have been characterized. Pathogenic mutations typically affect the coding regions, thus resulting in classical amino acid substitutions responsible for loss- or gain-of-function in protein products. However, several disease-causing defects originate from regulatory and non-coding DNA regions, ultimately affecting gene expression by transcriptional and/or post-transcriptional mechanisms.
Understanding the molecular pathophysiology of a rare monogenic disease has a double value. The identification of alterations that occur in specific genes, proteins, and pathways allows the translation of scientific advances into novel therapeutic approaches for these traits. Moreover, the investigation of rare monogenic diseases has the power to reveal fundamental biological mechanisms that would otherwise remain unknown.
This Special Issue will focus on the key molecular mechanisms that are affected within a rare monogenic disorder, such as those involving gene expression, molecular pathways, redox homeostasis, organelle stress, and cell death. Studies addressing new experimental therapies to target specific mechanisms in a monogenic disease, including drug discovery, drug repositioning, gene therapy, and protein- and nucleic acid-based therapeutics are relevant to this Special Issue. Original research articles and systematic reviews are welcome.
Dr. Ivano Condò
Manuscript Submission Information
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- Monogenic disease
- Gene expression
- Molecular pathways
- Organelle dysfunctions
- Molecular medicine
- Drug discovery
- Molecular therapy