Rare Diseases: From Metabolism, Pathogenesis to Therapy
A special issue of Metabolites (ISSN 2218-1989). This special issue belongs to the section "Endocrinology and Clinical Metabolic Research".
Deadline for manuscript submissions: 15 June 2026
Special Issue Editor
Interests: lysosomal storage disease; newborn screening; inborn errors of metabolism; dried blood spot; biomarkers
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Rare diseases, though individually uncommon, collectively affect millions of people worldwide and pose profound clinical, scientific and societal challenges. Their intrinsic complexity—often rooted in metabolic dysregulation, genetic mutations, or developmental abnormalities—demands a multidisciplinary approach to understand disease mechanisms and identify effective therapeutic strategies. In recent years, advances in genomics, molecular biology and high-resolution analytical technologies have catalyzed significant progress in uncovering the metabolic pathways and pathogenic processes underlying these conditions. Such insights not only expand our fundamental knowledge but also reveal novel biomarkers and therapeutic targets.
This Special Issue, ‘Rare Diseases: From Metabolism, Pathogenesis to Therapy,’ brings together cutting-edge research and comprehensive reviews that highlight current achievements and emerging directions in the field. Contributions span diverse topics, including metabolic alterations driving disease progression, molecular and cellular mechanisms governing pathogenesis, and innovative therapeutic approaches ranging from small molecules to gene- and cell-based interventions. By integrating basic science with translational perspectives, this collection aims to foster dialogue across disciplines and accelerate the development of effective diagnostics and treatments.
Ultimately, this Special Issue underscores the urgent need for collaborative research efforts to improve outcomes and quality of life for individuals living with rare diseases, advancing the shared goal of transforming scientific discovery into meaningful clinical impact.
Dr. Vincenza Gragnaniello
Guest Editor
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 250 words) can be sent to the Editorial Office for assessment.
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. Metabolites is an international peer-reviewed open access monthly 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 2700 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.
Keywords
- rare disease
- metabolism
- metabolic pathway
- biomarkers
- precision medicine
- disease mechanisms
- diagnostic advances
- omics technologies
- pathogenesis
- translational research
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