Special Issue "Genetics and Genomics of Inherited Metabolic Diseases"
Deadline for manuscript submissions: closed (15 October 2021).
Interests: lysosomal storage disorders; human genetics; epigenetics
Inherited metabolic diseases comprise a vast and complex array of separately rare genetic disorders. However, since the first inborn error of metabolism was described by Sir Archibald Garrod in 1902, over 1400 conditions have been included into this category (IEMbase), remarkably heightening the combined risk for any of them.
Rapid advances in the field of genomics and related disciplines have facilitated progress in our understanding of the pathophysiology of most metabolic disorders, and led to the development of various therapeutic approaches including cell therapy, enzyme replacement therapy, substrate reduction therapy, gene therapy, and others. Nevertheless, while improved screening and diagnosis methods enable presymptomatic treatment, they do not indicate what therapies would be most beneficial to the individual patient. Further research is therefore needed addressing disease pathophysiology, combination therapies, and optimal therapeutic timing.
This Special Issue of Genes aims to attract original research articles, reviews, and short communications on understanding recent advances in the genetics and genomics of inherited metabolic diseases. We look forward to submissions that describe basic, translational, epidemiological, and clinical research providing insight into current genetic and genomic findings as well as critical perspectives on upcoming challenges in this area.
Dr. Ewa Piotrowska
Dr. Magdalena Podlacha
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 papers will be 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 2000 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.
- metabolic diseases
- inborn errors of metabolism
- molecular mechanisms
- metabolic pathways
- novel therapies
- genetic variations