Genetic Research in Metabolic Diseases
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: closed (10 March 2023) | Viewed by 65015
Special Issue Editors
Interests: inherited metabolic diseases (IMDs); lysosomal storage disorders (LSD); newborn screening; gene therapy; artificial intelligence
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
With more than 1,400 different genetic diseases affecting a variety of biochemical pathways, the field of metabolic diseases represents a dynamic and expanding field of genetic research. In recent years, the increased knowledge in genetics, biochemistry, and molecular biology, together with technological advancements, especially in genomic sequencing and artificial intelligence, has animated researchers and clinicians who are dealing with the complexity of inherited metabolic diseases (IMDs). In particular, the areas of lysosomal storage disorders (LSD), congenital disorders of glycosylation (CDG), and mitochondrial disorders have seen important advancements and discoveries. From newborn screening programs to gene therapy, these diseases offer a wide range of possibilities in genetic research, with the potential of an unprecedented impact on those affected. At the same time, the field is characterized by unique technical and ethical challenges.
This Special Issue on Genetic Research in Metabolic Diseases will provide an updated overview, novel insights, and critical perspectives in the pathophysiology, diagnosis, and treatment of inherited metabolic disorders such as LSD, CDG, and mitochondrial disorders. Given the complexity and broadness of these topics, contributions from experts in the field through research papers and reviews are welcome.
Prof. Dr. Maurizio Scarpa
Prof. Dr. Peter Witters
Guest Editors
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. Genes 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 2600 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
- Genetics of inherited metabolic diseases
- IMDs classification
- Lysosomal storage disorders
- LSD
- Congenital disorders of glycosylation
- CDG
- Mitochondrial disease
- Newborn screening
- Gene therapy
- Artificial intelligence