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Genetic Mutations in Health and Disease

This special issue belongs to the section “Molecular Genetics and Genomics“.

Special Issue Information

Dear Colleagues,

Genetics play a significant role in the onset and progression of many diseases. While some genetic diseases are caused by mutations in a single gene, many others are associated with multiple genetic factors. Additionally, environmental influences often interplay with genetic predispositions, contributing to the complexity of these diseases.

This Special Issue focuses on the genetic underpinnings of human diseases, including cancer, neurodegenerative disorders, and metabolic conditions. Our aim is to explore the various aspects of genetic mutations, environmental factors, disease diagnosis, and management strategies. Despite advancements in medical science, the treatment of many genetic diseases remains challenging, as effective therapies are still lacking for several conditions. However, gene therapy presents a promising avenue for disease management and potential cures.

We invite the submission of review articles, research articles, and case reports that address these topics. Through this collection, we hope to advance our understanding of the genetic basis of diseases and contribute to the development of innovative diagnostic and therapeutic approaches.

Dr. Eva Bagyinszky
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 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-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.

Keywords

  • genetic diseases
  • mutations
  • genetic screening
  • structure prediction
  • haploinsufficeincy
  • germline mutations
  • somatic mutations
  • gene enviroment interaction
  • gene-gene interations

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Int. J. Mol. Sci. - ISSN 1422-0067