Advances in the Diagnosis of Inherited/Genetic Diseases

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: 31 March 2025 | Viewed by 30

Special Issue Editor


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Guest Editor
Laboratory Medicine, ASST Rhodense, Rho, Italy
Interests: cardiovascular genetics; inherited diseases; space biology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue delves into the rapidly advancing field of the diagnosis of inherited/genetic diseases, showcasing the latest research and methodologies that are enhancing our ability to identify, classify, and manage genetic disorders. With a focus on precision medicine and molecular diagnostics, this Special Issue explores innovative techniques, clinical applications, and ethical considerations surrounding the diagnosis of inherited/genetic diseases.

This Special Issue aims to provide a comprehensive overview of the current state of the art in diagnosing inherited/genetic diseases, from advancements in genetic sequencing technologies to the development of novel biomarkers and diagnostic tools. Researchers, clinicians, and healthcare professionals will find valuable insights into the latest research findings, clinical applications, and future directions in this rapidly evolving field.

Dr. Nicola Marziliano
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. Diagnostics 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 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

  • inherited diseases
  • genetic diseases
  • genetic diagnostics
  • precision medicine
  • molecular testing
  • clinical applications
  • ethical considerations

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Published Papers

This special issue is now open for submission.
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