Genes and Gene Therapies in Chronic Renal Disease

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

Deadline for manuscript submissions: 25 August 2025 | Viewed by 664

Special Issue Editor


E-Mail Website
Guest Editor
Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, QC H4A 3J1, Canada
Interests: genomics; nephrogenetics; focal segmental glomerulosclerosis; congenital anomalies of the kidney and urinary tract; renal ciliopathies; zebrafish

Special Issue Information

Dear Colleagues,

Over the past 30 years, medical genetics has achieved several significant milestones, such as the Human Genome Project, which was facilitated by the development of advanced testing technologies, while the development of CRISPR-Cas9 and other genome editing technologies revolutionized the field of clinical genetics by allowing for precise modifications of DNA sequences. In a comparatively short time, these novel technologies profoundly impacted clinical medical practice by transforming the understanding, diagnosis, and treatment of human disease. By uncovering the underlying genetic etiology, clinicians can establish a more precise and early diagnosis and implement personalized treatment approaches in which therapies are tailored to an individual’s genetic profile, with the goal of improving efficacy and reducing side effects.

This Special Issue on Genes and Gene Therapies in Chronic Renal Disease highlights the transformative role of molecular and medical genetics in enhancing the understanding, diagnosis, and treatment of patients with chronic renal disease. Recent advancements have revolutionized our ability to treat chronic kidney disease by identifying the numerous molecular mechanisms that contribute to the development of polycystic kidney disease, glomerulosclerosis, tubulointerstitial kidney disease, and congenital anomalies of the kidney and urinary tract. Cutting-edge technologies, including CRISPR-Cas9 and other gene editing tools, offer promising personalized approaches for the treatment of hereditary causes of renal disease. Meanwhile, recent progress in the development of small-molecule, RNA-based therapies and vector development has the potential to broaden the scope of targeted therapies, providing hope for patients with diseases for which no treatment currently exists.

Finally, this Special Issue also addresses the ethical, clinical, and technical challenges and ramifications associated with the clinical implementation of gene diagnostic and personalized therapies. These include concerns over long-term safety, delivery methods, health care costs, and equitable access to novel treatments. With this collection of papers, we aim to raise awareness of the significant contributions that medical genetics has made to the diagnosis and care of patients with renal disease and to stimulate further research and collaboration in the ongoing quest to develop novel targeted therapies.

Dr. Thomas Kitzler
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

  • chronic renal disease
  • personalized medicine
  • exome and genome sequencing
  • nephrogenetics
  • genetic kidney disease
  • small molecules
  • mRNA therapies
  • gene editing
  • gene delivery

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.
  • e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.

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

Published Papers (1 paper)

Order results
Result details
Select all
Export citation of selected articles as:

Research

20 pages, 1327 KiB  
Article
Genetic Testing in Adults over 50 Years with Chronic Kidney Disease: Diagnostic Yield and Clinical Implications in a Specialized Kidney Genetics Clinic
by Clara Schott, Mohammad Alajmi, Mohammad Bukhari, Sydney Relouw, Jian Wang, Adam D. McIntyre, Cadence Baker, Samantha Colaiacovo, Carla Campagnolo, Gabriela Almada Offerni, Peter G. Blake, Micheal Chiu, Andrea Cowan, Amit X. Garg, Lakshman Gunaratnam, Andrew A. House, Shih-Han Susan Huang, Hariharan Iyer, Arsh K. Jain, Anthony M. Jevnikar, John Johnson, Khaled Lotfy, Louise Moist, Faisal Rehman, Pavel S. Roshanov, Nabil Sultan, Matthew A. Weir, Pari Basharat, Anita Florendo-Cumbermack, Tayyab Khan, Jenny Thain, Kendrah Kidd, Stanislav Kmoch, Anthony J. Bleyer, Jaspreet Bhangu, Robert A. Hegele and Dervla M. Connaughtonadd Show full author list remove Hide full author list
Genes 2025, 16(4), 408; https://doi.org/10.3390/genes16040408 - 31 Mar 2025
Viewed by 347
Abstract
Background: Genetic causes of chronic diseases, once considered rare in adult-onset disease, now account for between 10 and 20% of cases of chronic kidney disease (CKD). Confirming a genetic diagnosis can influence disease management; however, the utility of genetic testing in older adults [...] Read more.
Background: Genetic causes of chronic diseases, once considered rare in adult-onset disease, now account for between 10 and 20% of cases of chronic kidney disease (CKD). Confirming a genetic diagnosis can influence disease management; however, the utility of genetic testing in older adults remains poorly understood, partly due to age-based restrictions on testing access. To better evaluate the diagnostic yield and clinical utility of genetic testing in this population, we analyzed data from adults aged ≥50 years with CKD who were assessed in a specialized kidney genetics clinic. Methods: We studied a cohort of 125 adults with CKD aged ≥50 years at the time of genetic testing. Genetic testing included gene panels targeting disease-related genes based on clinical phenotype, and/or exome sequencing for additional monogenic causes if the initial panel testing was inconclusive. Results: Pathogenic variants in disease-related genes were identified in 38% of patients. The highest diagnostic yield (48%) was in patients aged 50–54 years. The most common diagnosis post-testing was glomerulopathies (32%). Clinical utility, shown through the case series, included modifications to treatment and clinical management, as well as a reduction in the diagnostic odyssey. Conclusions: Our findings from a dedicated Kidney Genetics Clinic show that genetic testing in adults ≥50 years with CKD has significant diagnostic and clinical utility. These results support guideline recommendations that there should be no upper age limit for genetic testing. Future research in unselected CKD populations is needed to establish the broader applicability and feasibility of genetic testing in older adults. Full article
(This article belongs to the Special Issue Genes and Gene Therapies in Chronic Renal Disease)
Show Figures

Figure 1

Back to TopTop