Advancing Nephrogenetics: Diagnosis, Genetic Testing, and Treatment Innovations

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: 25 February 2026 | Viewed by 296

Special Issue Editors


E-Mail Website
Guest Editor
1. Department of Anatomy, Histology and Embryology, University of Split School of Medicine, Šoltanska 2A, 21000 Split, Croatia
2. Center for Translational Research in Biomedicine, University of Split School of Medicine, Soltanska 2A, 21000 Split, Croatia
Interests: kidney development; congenital anomalies of the kidney; next-generation sequencing; chronic kidney diseases; precision medicine; diabetic nephropathy
Special Issues, Collections and Topics in MDPI journals

E-Mail Website
Guest Editor
1. Department of Anatomy, Histology and Embryology, University of Split School of Medicine, Šoltanska 2A, 21000 Split, Croatia
2. Center for Translational Research in Biomedicine, University of Split School of Medicine, Soltanska 2A, 21000 Split, Croatia
Interests: histology; embryology; genetic kidney disorders; animal models

E-Mail Website
Co-Guest Editor
1. Department of Anatomy, Histology and Embryology, School of Medicine, University of Split, Soltanska 2A, 21000 Split, Croatia
2. Center for Translational Research in Biomedicine, University of Split School of Medicine, Soltanska 2A, 21000 Split, Croatia
Interests: developmental and molecular mechanisms of congenital anomalies of the kidney and urinary tract (CAKUT); kidney; kidney development; kidney disease; developmental biology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

(1) We are pleased to invite you to submit to a Special Issue focused on Advancing Nephrogenetics, exploring how genetic insights are reshaping the landscape of kidney disease diagnosis, classification, and therapy.

(2) This Special Issue aims to bring together original research, reviews, and clinical perspectives that highlight the evolving role of genetics in nephrology. The goal is to showcase state-of-the-art approaches to diagnosing hereditary kidney diseases, innovations in genetic testing technologies, and emerging therapeutic strategies grounded in molecular findings.  

(3) We welcome contributions addressing a broad spectrum of topics within nephrogenetics, including but not limited to the following:

  • Identification of novel genetic variants and mechanisms underlying monogenic or complex renal disorders;
  • Diagnostic utility and clinical integration of next-generation sequencing (NGS), including whole-exome and whole-genome sequencing;
  • Genotype–phenotype correlations and their implications for disease stratification and management;
  • Advances in prenatal and preimplantation genetic diagnostics for hereditary kidney diseases;
  • Functional studies of disease-associated variants and their relevance to kidney pathophysiology;
  • Precision medicine and targeted therapies informed by genetic findings;
  • Ethical, psychological, and practical challenges in genetic testing and counseling in nephrology;
  • Bioinformatics tools and databases relevant to nephrogenetic research;
  • Both clinical and experimental studies are welcome, along with case reports that significantly contribute to the understanding of nephrogenetic disorders.

In this Special Issue, original research articles and reviews are welcome. Research areas may include (but are not limited to) the following:

We look forward to receiving your contributions. 

Prof. Dr. Katarina Vukojević
Dr. Anita Racetin
Dr. Nela Kelam
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 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

  • nephrogenetics
  • hereditary kidney disease
  • genetic testing
  • next-generation sequencing
  • renal genomics
  • precision nephrology
  • gene therapy
  • targeted treatment
  • personalized medicine

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Published Papers

This special issue is now open for submission.
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