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Diagnostics
Special Issues
Advances in the Diagnosis of Inherited/Genetic Diseases
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Advances in the Diagnosis of Inherited/Genetic Diseases

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (31 March 2025) | Viewed by 1254

Special Issue Editor

Dr. Nicola Marziliano

E-Mail Website
Guest Editor
Laboratory Medicine, ASST Rhodense, Rho, Italy
Interests: cardiovascular genetics; inherited diseases; space biology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue delves into the rapidly advancing field of the diagnosis of inherited/genetic diseases, showcasing the latest research and methodologies that are enhancing our ability to identify, classify, and manage genetic disorders. With a focus on precision medicine and molecular diagnostics, this Special Issue explores innovative techniques, clinical applications, and ethical considerations surrounding the diagnosis of inherited/genetic diseases.

This Special Issue aims to provide a comprehensive overview of the current state of the art in diagnosing inherited/genetic diseases, from advancements in genetic sequencing technologies to the development of novel biomarkers and diagnostic tools. Researchers, clinicians, and healthcare professionals will find valuable insights into the latest research findings, clinical applications, and future directions in this rapidly evolving field.

Dr. Nicola Marziliano
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. Diagnostics is an international peer-reviewed open access semimonthly 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

  • inherited diseases
  • genetic diseases
  • genetic diagnostics
  • precision medicine
  • molecular testing
  • clinical applications
  • ethical considerations

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

Published Papers (2 papers)

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Research

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13 pages, 504 KiB  
Article
Role of Next-Generation Sequencing in Diagnosis of Familial Hypercholesterolemia in Serbia
by Sandra Singh Lukac, Vladimir Gasic, Jovana Komazec, Ivana Grubisa, Ljiljana Popovic, Iva Rasulic, Sonja Pavlovic and Katarina Lalic
Diagnostics 2025, 15(10), 1212; https://doi.org/10.3390/diagnostics15101212 - 12 May 2025
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Abstract
Objectives: Familial hypercholesterolemia (FH) is an autosomal dominant disorder of lipid metabolism characterized by high levels of low-density lipoprotein (LDL). This study aimed to identify variants in the LDLR, APOB, PCSK9 and LDLRAP1 genes and to identify the genotype–phenotype correlation in [...] Read more.
Objectives: Familial hypercholesterolemia (FH) is an autosomal dominant disorder of lipid metabolism characterized by high levels of low-density lipoprotein (LDL). This study aimed to identify variants in the LDLR, APOB, PCSK9 and LDLRAP1 genes and to identify the genotype–phenotype correlation in Serbian FH patients. Method: This study included a total of 101 patients suspected of having FH based on clinical criteria. Genetic analysis was performed by the next-generation sequencing (NGS) method. Results: An overall mutation detection rate of 43.6% was achieved. Thirteen distinct variants were detected in the LDLR gene (93.2%). The most frequently observed variant was c.858C>A p.(Ser286Arg), which was present in 26% of the LDLR-positive patients. Additional variants were detected in the APOB gene. No pathogenic variants were detected in the PCSK9 or LDLRAP1 genes. Comparing genetically FH-positive and FH-negative patients, statistical significance was observed in terms of age (p < 0.001), total cholesterol (TC) (p < 0.001), low-density-lipoprotein cholesterol (LDL-C) (p < 0.001) and triglyceridemia (p < 0.001). Conclusions: This study represents the first insight into the genetic basis of FH in Serbia. Taking into consideration that variants were detected in more than one gene and that the variants in the LDLR gene were distributed across nearly all exons, the FH diagnostics in Serbia ought to be based on NGS methodology. Full article
(This article belongs to the Special Issue Advances in the Diagnosis of Inherited/Genetic Diseases)
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Review

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25 pages, 906 KiB  
Review
Evolution and Prognostic Variables of Cystic Fibrosis in Children and Young Adults: A Narrative Review
by Mădălina Andreea Donos, Elena Țarcă, Elena Cojocaru, Viorel Țarcă, Lăcrămioara Ionela Butnariu, Valentin Bernic, Paula Popovici, Solange Tamara Roșu, Mihaela Camelia Tîrnovanu, Nicolae Sebastian Ionescu and Laura Mihaela Trandafir
Diagnostics 2025, 15(15), 1940; https://doi.org/10.3390/diagnostics15151940 - 2 Aug 2025
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Abstract
Introduction: Cystic fibrosis (CF) is a genetic condition affecting several organs and systems, including the pancreas, colon, respiratory system, and reproductive system. The detection of a growing number of CFTR variants and genotypes has contributed to an increase in the CF population which, [...] Read more.
Introduction: Cystic fibrosis (CF) is a genetic condition affecting several organs and systems, including the pancreas, colon, respiratory system, and reproductive system. The detection of a growing number of CFTR variants and genotypes has contributed to an increase in the CF population which, in turn, has had an impact on the overall statistics regarding the prognosis and outcome of the condition. Given the increase in life expectancy, it is critical to better predict outcomes and prognosticate in CF. Thus, each person’s choice to aggressively treat specific disease components can be more appropriate and tailored, further increasing survival. The objective of our narrative review is to summarize the most recent information concerning the value and significance of clinical parameters in predicting outcomes, such as gender, diabetes, liver and pancreatic status, lung function, radiography, bacteriology, and blood and sputum biomarkers of inflammation and disease, and how variations in these parameters affect prognosis from the prenatal stage to maturity. Materials and methods: A methodological search of the available data was performed with regard to prognostic factors in the evolution of CF in children and young adults. We evaluated articles from the PubMed academic search engine using the following search terms: prognostic factors AND children AND cystic fibrosis OR mucoviscidosis. Results: We found that it is crucial to customize CF patients’ care based on their unique clinical and biological parameters, genetics, and related comorbidities. Conclusions: The predictive significance of more dynamic clinical condition markers provides more realistic future objectives to center treatment and targets for each patient. Over the past ten years, improvements in care, diagnostics, and treatment have impacted the prognosis for CF. Although genotyping offers a way to categorize CF to direct research and treatment, it is crucial to understand that a variety of other factors, such as epigenetics, genetic modifiers, environmental factors, and socioeconomic status, can affect CF outcomes. The long-term management of this complicated multisystem condition has been made easier for patients, their families, and physicians by earlier and more accurate identification techniques, evidence-based research, and centralized expert multidisciplinary care. Full article
(This article belongs to the Special Issue Advances in the Diagnosis of Inherited/Genetic Diseases)
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