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Utilization of the New Concept, Genetically Transitional Disease to Study...
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Utilization of the New Concept, Genetically Transitional Disease to Study Genetic Mechanisms of Autoimmune and Autoinflammatory Diseases

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

Deadline for manuscript submissions: 30 May 2025 | Viewed by 1111

Special Issue Editors

Prof. Dr. Qingping Yao

E-Mail Website
Guest Editor
Division of Rheumatology, Allergy and Immunology, Department of Medicine, Stony Brook University, Stony Brook, NY, USA
Interests: autoinflammatory disease; autoimmune disease; rheumatic disease; genetics
Prof. Dr. Greg Gibson

E-Mail Website
Guest Editor
Georgia Institute of Technology, Predictive Health Institute and School of Biology, Atlanta, GA 30332, USA
Interests: genetics of complex traits; integrative genomics; transcriptomics
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,                              

Human genetic disorders have been traditionally classified as monogenic (Mendelian) or polygenic (genetically complex). Moreover, there has been an explosion in the volume of genomic information over the recent two decades. Genetically transitional disease (GTD) emerges as a new concept, supplementing traditional binary classification. It denotes that a genetic mutation is necessary but not sufficient to cause disease alone, highlighting the pervasive interactions between a person’s genetic background and environment. The GTD concept straddles the intermediate space between monogenic and polygenic diseases, in which modest to moderate risk alleles and low-frequency variants contribute to disease. This Special Issue aims to advance genetic and genomic research, particularly in autoimmune and autoinflammatory diseases, highlighting studies exploring the underlying genetic and genomic mechanisms (as well as their clinical implications) using the new concept as an innovative strategy. Our objective is to delve into the genetic continuum, genetic heterogeneity, predisposition, genetic markers, and the overall genetic and genomic mechanisms driving these diseases. This research topic calls for manuscripts of original research, reviews, case series, and well-studied single case reports. These papers may come from clinical, translational, and/or basic research.

Prof. Dr. Qingping Yao
Prof. Dr. Greg Gibson
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

  • autoimmune disease
  • autoinflammatory disease
  • genetics
  • genetic variant
  • genomics
  • genetically transitional disease
  • low-frequency variant
  • penetrance

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Published Papers (1 paper)

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12 pages, 486 KiB  
Perspective
Genetically Transitional Disease and the Road to Personalized Medicine
by Qingping Yao, Peter D. Gorevic and Greg Gibson
Genes 2025, 16(4), 401; https://doi.org/10.3390/genes16040401 - 30 Mar 2025
Viewed by 438
Abstract
Genetically transitional disease (GTD) is emerging as a new concept in genomic medicine to straddle between the traditional binary classification of monogenic and polygenic disease. Genetic testing result reports in molecular laboratories have been predicated on the monogenic disease model, which focuses on [...] Read more.
Genetically transitional disease (GTD) is emerging as a new concept in genomic medicine to straddle between the traditional binary classification of monogenic and polygenic disease. Genetic testing result reports in molecular laboratories have been predicated on the monogenic disease model, which focuses on pathogenic and likely pathogenic variants. While variants of uncertain significance (VUS) are reported by laboratories, there are challenges with regard to their clinical application so that these variants are often dismissed by ordering physicians. Unlike Mendelian disorders, where genetic variants are of high penetrance and highly probabilistic, the GTD concept is employed to highlight the impact of low-to-moderate effect gene variants whose influence on disease is modified by the genetic background. The GTD concept may explain health conditions associated with variants that are necessary but not sufficient for pathogenesis, lying in the mid gray zone between Mendelian and polygenic diseases. Although VUSs may not reach the level of pathogenicity based on American College of Medical Genetics and Genomics guidelines, they could be provisionally classified as GTD-associated variants to annotate and interpret the relationship between VUS and human genetic disease. The appropriate implementation of the GTD concept could impact patient care and research by focusing attention on the individual variability of responses in various diseases. Full article
(This article belongs to the Special Issue Utilization of the New Concept, Genetically Transitional Disease to Study Genetic Mechanisms of Autoimmune and Autoinflammatory Diseases)
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