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Special Issue "Peroxisomal Disorders: Development of Targeted Therapies"
A special issue of Cells (ISSN 2073-4409). This special issue belongs to the section "Organelle Function".
Deadline for manuscript submissions: closed (15 April 2022) | Viewed by 16671
Special Issue Editors
Interests: inherited metabolic disorders; targeted therapies; gene therapy; gene editing; screening
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
The purpose of this Special Issue is to provide an innovative forum to discuss emerging therapies of possible relevance to the treatment of inherited peroxisomal disorders. Peroxisomes are metabolic organelles that act as a central hub of cell signaling pathways and play essential roles in the functions and development of virtually all mammalian organ systems. Due to the advent of clinical genomics, there is an expanding group of genetic disorders caused by impaired peroxisome assembly and/or downstream functions. These include peroxisome biogenesis disorders (PBDs) such as Zellweger spectrum disorder (ZSD) and rhizomelic chondrodysplasia punctata (RCDP), which can affect numerous peroxisome functions, as well as peroxisomal single-protein deficiencies such as adrenoleukodystrophy (ALD) which can have a more targeted effect on specific peroxisomal metabolic activities. While there is a strong developmental component to disease in individuals with severe ZSD, most patients have milder forms of disease compatible with survival through adulthood. These individuals have a degenerative condition where it may be possible to slow and/or halt disease progression in order to maintain or improve quality of life. Newborn screening for ALD can also detect ZSD, and offers hopes for early interventions and the development of novel targeted therapies to address their clinical manifestations.
Here, our overall goal is to accelerate the process of developing roadmaps for therapeutic development for various peroxisomal disorders by engaging in a critical evaluation of emerging therapeutic modalities including gene-, small-molecule-, and cell-based therapies. We will place a special focus on discussions of research infrastructure required for the development and eventual testing of these therapies in the clinic. This includes defining and establishing cell-based and animal models of disease, clinical biomarkers, therapeutic windows, and clinical endpoints. We will also highlight fundamental gaps in the scientific knowledge base that need to be bridged in order to develop more effective rational therapeutic interventions for peroxisomal disorders.Dr. Joseph G. Hacia
Prof. William B. Rizzo
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cells is an international peer-reviewed open access semimonthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2400 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
- gene therapy
- small-molecule therapies
- stem cell transplantation
- animal models
- clinical biomarkers
- clinical trials