Diagnosis and Therapies for Rare Diseases
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: 15 January 2025 | Viewed by 761
Special Issue Editor
2. Sbarro Institute for Cancer Research and Molecular Medicine, Department of Biology, Center for Biotechnology, College of Science and Technology, Temple University, Philadelphia, PA, USA
Interests: genetics of rare neurologic and neuromuscular diseases; translational neurogenetics; clinical & molecular neurogenetics; applied stem cell biology; systems neuroscience; neuropathology and experimental neurobiology; nanotechnology in nutraceuticals and functional fods; roles of autophagy in neurodegenerative diseases; clinical neurology of adults and children
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Special Issue Information
Dear Colleagues,
We extend our invitation for you to contribute to this Special Issue, entitled “Diagnosis and Therapies for Rare Diseases”. Rare genetic disorders present unique diagnostic, treatment, and management challenges, underscoring the critical need for focused research efforts in this domain. This Special Issue aims to advance our understanding of rare diseases, spotlighting various significant aspects.
In particular, we seek contributions to identify known or novel disease-associated variants, alongside advancements in related technologies crucial for accurate diagnosis. Additionally, we encourage submissions addressing the forefront of de novo drug discovery and drug repositioning, pivotal in pursuing treatments for currently incurable diseases and enhancing existing therapies burdened by substantial limitations.
Your expertise and insights would greatly enrich this endeavor, fostering progress in diagnosing and treating rare genetic diseases. We eagerly anticipate your valuable contributions to this vital area of research.
Prof. Dr. Mariarosa Anna Beatrice Melone
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. 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
- genetic disorders
- rare diseases
- diagnosis and therapies
- disease-associated variants
- precision medicine
- personalized therapy
- drug discovery
- drug repositioning