Clinical Advances in Functional Genomics

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Omics/Informatics".

Deadline for manuscript submissions: 31 December 2024 | Viewed by 484

Special Issue Editor


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Guest Editor
Department of Public Health and Infectious Diseases, Sapienza University, 00185 Rome, Italy
Interests: forensic pathology; histology; immunohistochemistry; genetics
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The purpose of this Special Issue is to explore the innovations and possibilities of functional genomics, especially taking into consideration the potential of genomics in healthcare and disease management. Functional genomics plays an important role in molecular biology to express gene interactions and functions. The main aspects of research are related to gene transcription and translation, and the regulation of gene expression. This Special Issue aims to explore the interface between genomics, network biology, and proteomics data. Research fields such as bioinformatics are crucial to perform analysis of functional genomics data, especially using techniques like data clustering, artificial neural networks, support vector machines, machine learning, or principal component analysis. This Special Issue welcomes submissions including but not limited to bioinformatics methods, studies of rare or common diseases, and novel experimental systems such as primary cell lines. We also welcome papers that address the implementation of genomics into personalized medicine.

Dr. Alice Chiara Manetti
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. Journal of Personalized Medicine 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

  • genomics
  • functional genomics
  • precision medicine
  • genomic diagnosis
  • transcriptomics
  • integrative genomics
  • genomics data visualization
  • network biology
  • bioinformatics
  • disease predisposition

Published Papers (1 paper)

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Review

15 pages, 1291 KiB  
Review
Sudden Cardiac Death, Post-Mortem Investigation: A Proposing Panel of First Line and Second Line Genetic Tests
by Fabio Del Duca, Alessandro Ghamlouch, Alice Chiara Manetti, Gabriele Napoletano, Elena Sonnini, Biancamaria Treves, Alessandra De Matteis, Raffaele La Russa, Mary N. Sheppard, Vittorio Fineschi and Aniello Maiese
J. Pers. Med. 2024, 14(5), 544; https://doi.org/10.3390/jpm14050544 - 20 May 2024
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Abstract
Investigating the causes of Sudden cardiac death (SCD) is always difficult; in fact, genetic cardiac conditions associated with SCD could be “silent” even during autopsy investigation. In these cases, it is important to exclude other aetiology and assist to ask for genetic investigations. [...] Read more.
Investigating the causes of Sudden cardiac death (SCD) is always difficult; in fact, genetic cardiac conditions associated with SCD could be “silent” even during autopsy investigation. In these cases, it is important to exclude other aetiology and assist to ask for genetic investigations. Herein, the purpose of this review is to collect the most-implicated genes in SCD and generate a panel with indications for first line and second line investigations. A systematic review of genetic disorders that may cause SCD in the general population was carried out according to the Preferred Reporting Item for Systematic Review (PRISMA) standards. We subsequently listed the genes that may be tested in the case of sudden cardiac death when the autopsy results are negative or with no evidence of acquired cardiac conditions. To make genetic tests more specific and efficient, it is useful and demanded to corroborate autopsy findings with the molecular investigation as evident in the panel proposed. The genes for first line investigations are HCM, MYBPC3, MYH7, TNNT2, TNNI3, while in case of DCM, the most implicated genes are LMNA and TTN, and in second line for these CDM, ACTN2, TPM1, C1QPB could be investigated. In cases of ACM/ARVC, the molecular investigation includes DSP, DSG2, DSC2, RYR2, PKP2. The channelopathies are associated with the following genes: SCN5A, KCNQ1, KCNH2, KCNE1, RYR2. Our work underlines the importance of genetic tests in forensic medicine and clinical pathology; moreover, it could be helpful not only to assist the pathologists to reach a diagnosis, but also to prevent other cases of SCD in the family of the descendant and to standardise the type of analysis performed in similar cases worldwide. Full article
(This article belongs to the Special Issue Clinical Advances in Functional Genomics)
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