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 636

Special Issue Editor


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Guest Editor
Laboratory Medicine, ASST Rhodense, Rho, Italy
Interests: cardiovascular genetics; inherited diseases; space biology
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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

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Keywords

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

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Published Papers (1 paper)

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Research

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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