Rare Diseases: From Mechanisms to Treatment

Dear Colleagues,

Rare diseases collectively affect hundreds of millions of people worldwide, despite each individual condition occurring in a relatively small number of patients. More than 7000 rare diseases have been identified, with the majority having a genetic basis and many involving complex, multisystem manifestations. Advances in genomics, molecular biology, biomarker discovery and precision medicine have significantly improved our understanding of disease mechanisms, creating new opportunities for earlier diagnosis and the development of targeted therapies. Nevertheless, many rare diseases remain underdiagnosed or misdiagnosed, and effective treatments are still unavailable for a substantial proportion of affected individuals.

The growing integration of multidisciplinary clinical care, translational research, artificial intelligence and innovative therapeutic approaches is rapidly transforming the field of rare diseases. Collaboration among clinicians, researchers and healthcare systems is essential to bridge the gap between scientific discoveries and clinical practice, ultimately improving patient outcomes and quality of life. Given the rapid pace of progress, there is a timely need to consolidate current knowledge and showcase emerging advances across the spectrum of rare disease research.

This Special Issue aims to present and disseminate the most recent advances in the understanding, diagnosis and treatment of rare diseases. We welcome original research articles, systematic reviews, narrative reviews, case series and clinically relevant studies addressing the fundamental, translational and clinical aspects of rare diseases. Particular emphasis will be placed on multidisciplinary approaches that improve diagnostic accuracy, clarify disease mechanisms and advance personalized therapeutic strategies.

Topics of interest for publication include, but are not limited to, the following:

• Molecular and genetic mechanisms underlying rare diseases;
• Neurodegenerative and neuromuscular rare disorders;
• Rare neurological diseases and emergency neurological presentations;
• Biomarkers for diagnosis, prognosis and treatment response;
• Precision medicine and personalized therapeutic strategies;
• Gene therapy, RNA-based therapies and other innovative treatments;
• Advances in diagnostic technologies, including genomic sequencing and artificial intelligence;
• Multidisciplinary management and models of care for rare diseases;
• Clinical trials and real-world evidence in rare diseases;
• Challenges in early diagnosis and reducing diagnostic delay;
• Patient-centered outcomes, quality of life and healthcare delivery for rare disease populations.

We look forward to receiving your valuable contributions and advancing knowledge in this rapidly evolving field.

Dr. Maria Sofia Cotelli
Dr. Filippo Manelli
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 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-anonymized peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Medicina 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 2200 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
• neurodegenerative disorders
• neuromuscular disorders
• genetic disorders
• molecular mechanisms
• precision medicine
• biomarkers
• genomic medicine
• gene therapy
• personalized treatment
• translational research
• neurological rare diseases
• emergency neurology
• multidisciplinary care
• clinical trials
• disease registries
• innovative therapies