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Molecular Discoveries, Clinical Diagnostics, and Personalized Treatments for Human Genetic...
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Molecular Discoveries, Clinical Diagnostics, and Personalized Treatments for Human Genetic 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: 25 July 2025 | Viewed by 618

Special Issue Editor

Dr. Deborah J. Good

E-Mail Website
Guest Editor
Department of Human Nutrition, Foods and Exercise, Virginia Tech, Blacksburg, VA 24060, USA
Interests: nutraceutical action; genetic obesity; mouse models of disease
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Collaborations between scientists and clinicians have helped genetic medicine to make significant advances in recent years. The latest human genome assembly from Ensembl! (GRCh38.p14) has identified over 1 billion short variants and 7.8 million structural variants in humans; yet, for most of these variants, we have no data on whether they are silent or result in rare phenotypes or life-threatening genetic diseases. The use of in silico tools and laboratory studies of engineered polymorphisms in cells or animals can lead to the creation of clinical diagnostic tools, and eventually to personalized treatments for human carriers.

In this Special Issue, we invite researchers and clinicians to contribute high-quality original papers describing new polymorphisms contributing to human genetic disease, new or improved molecular diagnostic tests, new pharmacogenetic findings that define treatment strategies and novel genetic discoveries from all areas of medicine. Papers including methodologies such as whole genome sequencing, cell and animal models, in silico prediction tools, and clinical trials are welcome. The goal of this Special Issue is to highlight advances leading to new molecular diagnostic tools for earlier detection, new treatments and new cures.

Dr. Deborah J. Good
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

  • polymorphisms
  • molecular diagnostic tools
  • biomarkers
  • whole genome sequencing
  • de novo mutations
  • inherited conditions
  • pharmacogenetics
  • rare disease markers
  • precision medicine
  • genetic testing

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Published Papers (1 paper)

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Research

17 pages, 4095 KiB  
Article
Case Study: Genetic and In Silico Analysis of Familial Pancreatitis
by Yash Sharma and Deborah J. Good
Genes 2025, 16(5), 603; https://doi.org/10.3390/genes16050603 - 20 May 2025
Viewed by 205
Abstract
Background/Objectives: Chronic pancreatitis (CP) is a progressive inflammatory condition of the pancreas that leads to irreversible changes in pancreatic structure. The pancreatic α and β cells secrete hormones such as insulin and glucagon into the bloodstream. The pancreatic acinar cells secrete digestive enzymes [...] Read more.
Background/Objectives: Chronic pancreatitis (CP) is a progressive inflammatory condition of the pancreas that leads to irreversible changes in pancreatic structure. The pancreatic α and β cells secrete hormones such as insulin and glucagon into the bloodstream. The pancreatic acinar cells secrete digestive enzymes that break down macromolecules. When these digestive enzymes do not function properly, maldigestion, malabsorption, and malnutrition may result. Presented here is a case study of an individual newly diagnosed with chronic pancreatitis, along with a genetic analysis of his son and an in-silico analysis of two of the variant proteins. Methods: This study was conducted using human subjects, namely, the proband (father) and his son. Medical genetic testing of the proband (father) identified the presence of two variants in the cystic fibrosis transmembrane receptor gene (CFTR): variant rs213950, resulting in a single amino acid change (p. Val470Met), and variant rs74767530, a nonsense variant (Arg1162Ter) with known pathogenicity for cystic fibrosis. Medical testing also revealed an additional missense variant, rs515726209 (Ala73Thr), in the CTRC gene. Cheek cell DNA was collected from both the proband and his son to determine the inheritance pattern and identify any additional variants. A variant in the human leukocyte antigen (rs7454108), which results in the HLA-DQ8 haplotype, was examined in both the proband and his son due to its known association with autoimmune disease, a condition also linked to chronic pancreatitis. In silico tools were subsequently used to examine the impact of the identified variants on protein function. Results: Heterozygosity for all variants originally identified through medical genetic testing was confirmed in the proband and was absent in the son. Both the proband and his son were found to have the DRB1*0301 (common) haplotype for the HLA locus. However, the proband was also found to carry a linked noncoding variant, rs2647088, which was absent in the son. In silico analysis of variant rs213950 (Val470Met) in CFTR and rs515726209 (Ala73Thr) in CTRC revealed distinct changes in predicted ligand binding for both proteins, which may affect protein function and contribute to the development of CP. Conclusions: This case study of a proband and his son provides additional evidence for a polygenic inheritance pattern in CP. The results also highlight new information on the role of the variants on protein function, suggesting additional testing of ligand binding for these variants should be done to confirm the functional impairments. Full article
(This article belongs to the Special Issue Molecular Discoveries, Clinical Diagnostics, and Personalized Treatments for Human Genetic Diseases)
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