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Clinical and Molecular Aspects of Rare Disease
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Clinical and Molecular Aspects of Rare Disease

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

Deadline for manuscript submissions: closed (20 December 2022) | Viewed by 5102

Special Issue Editors

Dr. Giuseppe Limongelli

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Guest Editor
Department of Translational Medical Sciences, Inherited and Rare Heart Disease, Vanvitelli Cardiology, University of Campania Luigi Vanvitelli, 80131 Naples, Italy
Interests: cardiomyopathies; sudden death; rare disease; heart failure; genetic cardiovascular diseases
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Giulia Frisso

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Guest Editor
Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy
Interests: neuromuscular diseases; rare diseases; hereditary metabolic diseases; hereditary cardiomyopathies and arrhythmogenic syndromes; sudden death; oncological diseases
Special Issues, Collections and Topics in MDPI journals
Dr. Michele Lioncino

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Guest Editor
Department of Translational Medical Sciences, Inherited and Rare Heart Disease, Vanvitelli Cardiology, University of Campania Luigi Vanvitelli, 80131 Naples, Italy
Interests: cardiomyopathies; rare disease; genetic cardiovascular diseases; left ventricular hypertrophy; heart failure
Dr. Martina Caiazza

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Guest Editor
Department of Translational Medical Sciences, Inherited and Rare Heart Disease, Vanvitelli Cardiology, University of Campania Luigi Vanvitelli, 80131 Naples, Italy
Interests: genotype; genetic disorders; rare disease; genetic cardiovascular diseases; NGS
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Over the last decade, our knowledge about clinical and molecular aspects of rare diseases has profoundly deepened; the advances in genetic testing and genome sequencing have allowed us to find a personalized, tailored therapeutic approach, thus prolonging the survival and improving the quality of life of hundreds of patients. Disciplines such as genomics, transcriptomics and proteomics have provided pathophysiological insights into stratifying patients according to their specific clinical phenotype and molecular mechanisms; therefore, the groups for whom tailored therapy is most beneficial at earlier disease stages can be identified.  The evolving paradigm of precision medicine, initially most prevalent in the context of rare diseases, has been applied to larger populations with “common” cardiovascular diseases to find a personalized approach for each risk profile and to identify the contribution of genetics in clinical scenarios.

This methodological landmark confirms the importance of deep phenotypic characterization in future healthcare systems and encourages multidisciplinary collaboration for a better understanding of clinical and molecular aspects of rare diseases. This Special Issue aims to gather and present novel research in the field of rare cardiovascular diseases. Articles may include the molecular basis of complex cardiovascular conditions, new frontiers in gene testing and genome editing, gene therapy for rare conditions, new genotype–phenotype correlations, personalized, targeted pharmacological approaches in syndromic conditions and applications of translational research to clinical aspects of rare diseases. The Guest Editors welcome original research articles, reviews, perspectives, hypotheses and theories, general commentaries, opinions and case reports relevant to this research topic.

Dr. Giuseppe Limongelli
Dr. Giulia Frisso
Dr. Michele Lioncino
Dr. Martina Caiazza
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

  • genes
  • transcriptomics
  • rare diseases
  • cardiovascular diseases
  • genomics
  • genome editing
  • gene therapy

Published Papers (2 papers)

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13 pages, 2224 KiB  
Article
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method
by Ferdinando Barretta, Fabiana Uomo, Filomena Caldora, Rossella Mocerino, Daniela Adamo, Francesco Testa, Francesca Simonelli, Olga Scudiero, Nadia Tinto, Giulia Frisso and Cristina Mazzaccara
Genes 2023, 14(5), 1087; https://doi.org/10.3390/genes14051087 - 15 May 2023
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Abstract
Background: Next-generation sequencing (NGS) technology is revolutionizing diagnostic screening for mitochondrial diseases (MDs). Moreover, an investigation by NGS still requires analyzing the mitochondrial genome and nuclear genes separately, with limitations in terms of time and costs. We describe the validation and implementation of [...] Read more.
Background: Next-generation sequencing (NGS) technology is revolutionizing diagnostic screening for mitochondrial diseases (MDs). Moreover, an investigation by NGS still requires analyzing the mitochondrial genome and nuclear genes separately, with limitations in terms of time and costs. We describe the validation and implementation of a custom blended MITOchondrial-NUCLEAR (MITO-NUCLEAR) assay for the simultaneous identification of genetic variants both in whole mtDNA and in nuclear genes included in a clinic exome panel. Furthermore, the MITO-NUCLEAR assay, implemented in our diagnostic process, has allowed us to arrive at a molecular diagnosis in a young patient. Methods: Massive sequencing strategy was applied for the validation experiments, performed using multiple tissues (blood, buccal swab, fresh tissue, tissue from slide, and formalin-fixed paraffin-embedded tissue section) and two different blend-in ratios of the mitochondrial probes: nuclear probes; 1:900 and 1:300. Results: Data suggested that 1:300 was the optimal probe dilution, where 100% of the mtDNA was covered at least 3000×, the median coverage was >5000×, and 93.84% of nuclear regions were covered at least 100×. Conclusions: Our custom Agilent SureSelect MITO-NUCLEAR panel provides a potential “one-step” investigation that may be applied to both research and genetic diagnosis of MDs, allowing the simultaneous discovery of nuclear and mitochondrial mutations. Full article
(This article belongs to the Special Issue Clinical and Molecular Aspects of Rare Disease)
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7 pages, 1100 KiB  
Case Report
Severe Lymphatic Disorder and Multifocal Atrial Tachycardia Treated with Trametinib in a Patient with Noonan Syndrome and SOS1 Mutation
by Michele Lioncino, Adelaide Fusco, Emanuele Monda, Diego Colonna, Michelina Sibilio, Martina Caiazza, Daniela Magri, Angela Carla Borrelli, Barbara D’Onofrio, Maria Luisa Mazzella, Rossella Colantuono, Maria Rosaria Arienzo, Berardo Sarubbi, Maria Giovanna Russo, Giovanni Chello and Giuseppe Limongelli
Genes 2022, 13(9), 1503; https://doi.org/10.3390/genes13091503 - 23 Aug 2022
Cited by 11 | Viewed by 3197
Abstract
Noonan syndrome (NS) is a multisystemic disorder caused by germline mutations in the Ras/MAPK cascade, causing a broad spectrum of phenotypical abnormalities, including abnormal facies, developmental delay, bleeding diathesis, congenital heart disease (mainly pulmonary stenosis and hypertrophic cardiomyopathy), lymphatic disorders, and uro-genital abnormalities. [...] Read more.
Noonan syndrome (NS) is a multisystemic disorder caused by germline mutations in the Ras/MAPK cascade, causing a broad spectrum of phenotypical abnormalities, including abnormal facies, developmental delay, bleeding diathesis, congenital heart disease (mainly pulmonary stenosis and hypertrophic cardiomyopathy), lymphatic disorders, and uro-genital abnormalities. Multifocal atrial tachycardia has been associated with NS, where it may occur independently of hypertrophic cardiomyopathy. Trametinib, a highly selective MEK1/2 inhibitor currently approved for the treatment of cancer, has been shown to reverse left ventricular hypertrophy in two RIT1-mutated newborns with NS and severe hypertrophic cardiomyopathy. Severe lymphatic abnormalities may contribute to decreased pulmonary compliance in NS, and pulmonary lymphangiectasias should be included in the differential diagnosis of a newborn requiring prolonged oxygen administration. Herein we report the case of a pre-term newborn who was admitted to our unit for the occurrence of severe respiratory distress and subentrant MAT treated with trametinib. Full article
(This article belongs to the Special Issue Clinical and Molecular Aspects of Rare Disease)
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