Special Issue "Rare Diseases: Molecular Mechanisms and Therapeutic Strategies (II)"
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".
Deadline for manuscript submissions: 30 September 2019
Prof. Lidia Larizza
Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy
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Phone: +39-02 619113041
Fax: +39-02 619112464
Interests: rare disorders of chromatin regulators; Rubinstein-Taybi and related syndromes of the epigenetic machinery; chromosomal/genomic instability syndromes with cancer predisposition; imprinting disorders affecting growth; neurodevelopmental imprinting disorders; genomic disorders; MARK4 gene; c-kit gene
A rare disease is any disease that affects a small percentage of the population. The quantification of “small” is variable, and represents an artificial border that will necessarily change with the diffusion of genetic screenings. More than 5000 rare diseases have been described. Non-sense mutations, deletions, and insertions abolish the function of the affected proteins, but mis-sense mutations have variable effects that go from complete inactivation to a mild reduction of activity. At present, more than 70,000 mis-sense mutations have been reported. Taken together, these findings imply that there are different genotypes and phenotypes for any given disease. Bare figures give a flavor of the great challenge represented by rare diseases in terms of both diagnosis and therapy.
We seek papers that look into rare diseases with a genetic, biochemical, or bioinformatic approach. Papers addressing specific pharmacological therapies for rare diseases are especially welcome.
Prof. Maria Vittoria Cubellis
Prof. Lidia Larizza
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. 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. The Article Processing Charge (APC) for publication in this open access journal is 1800 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.
- rare diseases
- genetic diseases, inborn
- molecular chaperones
- drug repositioning
- integrated omics approaches
- precision medicine
The below list represents only planned manuscripts. Some of these manuscripts have not been received by the Editorial Office yet. Papers submitted to MDPI journals are subject to peer-review.
Draft Title: Beckwith-Wiedemann and Silver-Russell syndromes: model diseases for opposite alterations causing opposite phenotypes
Authors: Thomas Eggermann, Carla Eßinger, Kathrin Wesseler et al.
Title: A review regarding the repositioning of drugs for Duchenne muscular dystrophy
Authors: Marcella Canton et al.
Title: A review article on ATM and its role in the heart
Authors: Krishna Singh, et al.
Title: Pharmacological role of cannabinoids in severe rare form of epilepsy and muscular dystrophies
Authors: Fabio A. Iannotti, et al.