Hereditary Diseases: Insights from Genetic Perspective

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular Genetics and Genetic Diseases".

Deadline for manuscript submissions: 30 June 2026

Special Issue Editor


E-Mail Website
Guest Editor
Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, Paris, France
Interests: rare disorders; chromatinopathies; epigenome modification and chromatin organisation; iPS cells; mouse embryonic stem cells; chromatin remodelers; DNA (hydroxy)methylation; transcriptional regulation; stemness network; histone variants

Special Issue Information

Dear Colleagues,

Hereditary diseases, conditions passed from one generation to the next through genetic material, represent a profound area of medical science that bridges fundamental biology with clinical practice. For centuries, the patterns of inheritance observed in families were a mystery, but the advent of modern genetics has illuminated the molecular mechanisms underlying these disorders. This Special Issue, “Hereditary Diseases: Insights from Genetic Perspective,” delves into the cutting-edge research and transformative discoveries that are reshaping our understanding of these conditions.

The journey from identifying a faulty gene to developing potential therapies is complex and multifaceted. This issue aims to bring together contributions from leading international experts to explore the full spectrum of hereditary disease research. We welcome the latest advances in genomic technologies, such as next-generation sequencing and new animal and cellular models like iPS cells and CRISPR-Cas9, which are revolutionizing diagnosis and revealing novel therapeutic targets. Articles within this issue could cover the pathophysiology of monogenic disorders like cystic fibrosis and Huntington's disease, as well as the intricate genetic predispositions to complex conditions such as cancer and cardiovascular diseases. By providing a comprehensive overview from molecular pathways to patient care, this collection aims to be an invaluable resource for researchers, clinicians, and students dedicated to mitigating the burden of hereditary diseases.

Dr. Maud de Dieuleveult
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. Biomedicines 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 mutations
  • inheritance patterns
  • genomic medicine
  • monogenic disorders
  • genetic counseling

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • Reprint: MDPI Books provides the opportunity to republish successful Special Issues in book format, both online and in print.

Further information on MDPI's Special Issue policies can be found here.

Published Papers

This special issue is now open for submission.
Back to TopTop