Rare Genetic Diseases: From Molecular Mechanisms to Therapeutic Strategies

Dear Colleagues,

Rare genetic diseases are involved in a wide range of medical conditions, from innate metabolic errors to neurodegenerative diseases. In recent years, the huge increase in sequencing techniques has enabled the diagnosis of more rare genetic diseases than in the previous 50 years. This, together the enormous development of genetic engineering and molecular biology techniques, has opened up the possibility of improving the quality of life of these patients or even curing the diseases by applying the more recent scientific procedures.

This International Journal of Molecular Sciences Special Issue, entitled “Rare Genetic Diseases: From Molecular Mechanisms to Therapeutic Strategies”, will collect reviews and original manuscripts about the latest research data regarding the advances in the molecular diagnosis, treatment, and therapy of rare genetic diseases. The scope ranges from recent advances in diagnosis techniques to the novel therapeutic strategies applied to these diseases. Furthermore, studies on the relationship between the molecular mechanism and the clinical complications of the disease are also welcomed.

We invite suggestions for manuscripts to be included in this Special Issue. Please contact the editors before preparing the manuscript to pre-arrange the topic.

Dr. Maria Arnedo
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 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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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.

• rare genetic disease
• innate metabolic errors
• neurodegenerative diseases
• therapeutic
• molecular diagnosis