Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
5.1
3.5
Journals
Genes
Special Issues
Diagnosis and Therapies for Rare Diseases
share announcement

Diagnosis and Therapies for Rare 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: 10 September 2024 | Viewed by 343

Special Issue Editors

Dr. Maria Monticelli

E-Mail
Guest Editor
1. Department Environmental, Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), University of Campania “Luigi Vanvitelli”, Via Vivaldi 43, 81100 Caserta, Italy
2. Institute of Biomolecular Chemistry ICB, CNR, Via Campi Flegrei 34, 80078 Pozzuoli, Italy
3. Department Biology, University of Napoli «Federico II», Complesso Universitario Monte Sant’Angelo, Via Cinthia, 80126 Napoli, Italy
Interests: biochemistry; proteins; protein folding; drug discovery; rare diseases
Special Issues, Collections and Topics in MDPI journals
Dr. Bruno Hay Mele

E-Mail Website
Guest Editor
Department Biology, University of Napoli Federico II, Complesso Universitario Monte Sant’Angelo, Via Cinthia, 80126 Napoli, Italy
Interests: protein folding; structural biology; biological networks; complex systems; rare diseases
Special Issues, Collections and Topics in MDPI journals
Dr. Giuseppina Andreotti

E-Mail Website
Guest Editor
Institute of Biomolecular Chemistry, National Research Council, Pozzuoli, Naples, Italy
Interests: pharmacological chaperones; glycosyl hydrolases; metabolomic; NMR; protein expression; protein purification; enzymatic assay; peptide/protein structure; thermal shift assay; Fabry disease; PMM2-CDG
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

We extend our invitation for you to contribute to the Special Issue “Diagnosis and Therapies for Rare Diseases”. Rare genetic disorders present unique diagnostic, treatment, and management challenges, underscoring the critical need for focused research efforts in this domain. This Special Issue aims to advance our understanding of rare diseases, spotlighting various significant aspects.

In particular, we seek contributions to identify known or novel disease-associated variants alongside advancements in related technologies crucial for accurate diagnosis. Additionally, we encourage submissions addressing the forefront of de novo drug discovery and drug repositioning, pivotal in pursuing treatments for currently incurable diseases and enhancing existing therapies burdened by substantial limitations.

Your expertise and insights would greatly enrich this endeavour, fostering progress in diagnosing and treating rare genetic diseases. We eagerly anticipate your valuable contributions to this vital area of research.

Dr. Maria Monticelli
Dr. Bruno Hay Mele
Dr. Giuseppina Andreotti
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

  • genetic disorders
  • rare diseases
  • diagnosis and therapies
  • disease-associated variants
  • precision medicine
  • personalized therapy
  • drug discovery
  • drug repositioning

Published Papers (1 paper)

Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Research

10 pages, 541 KiB  
Article
Optical Genome Mapping as a New Tool to Overcome Conventional Cytogenetics Limitations in Patients with Bone Marrow Failure
by June Iriondo, Ana Gómez, Josune Zubicaray, Jorge Garcia-Martinez, Lorea Abad, Carmen Matesanz, Reyes Giménez, Almudena Galán, Alejandro Sanz, Elena Sebastián, Jesús Gonzalez de Pablo, Ana de la Cruz, Manuel Ramírez and Julián Sevilla
Genes 2024, 15(5), 559; https://doi.org/10.3390/genes15050559 (registering DOI) - 27 Apr 2024
Viewed by 211
Abstract
Cytogenetic studies are essential in the diagnosis and follow up of patients with bone marrow failure syndromes (BMFSs), but obtaining good quality results is often challenging due to hypocellularity. Optical Genome Mapping (OGM), a novel technology capable of detecting most types chromosomal structural [...] Read more.
Cytogenetic studies are essential in the diagnosis and follow up of patients with bone marrow failure syndromes (BMFSs), but obtaining good quality results is often challenging due to hypocellularity. Optical Genome Mapping (OGM), a novel technology capable of detecting most types chromosomal structural variants (SVs) at high resolution, is being increasingly used in many settings, including hematologic malignancies. Herein, we compared conventional cytogenetic techniques to OGM in 20 patients with diverse BMFSs. Twenty metaphases for the karyotype were only obtained in three subjects (15%), and no SVs were found in any of the samples. One patient with culture failure showed a gain in chromosome 1q by fluorescence in situ hybridization, which was confirmed by OGM. In contrast, OGM provided good quality results in all subjects, and SVs were detected in 14 of them (70%), mostly corresponding to cryptic submicroscopic alterations not observed by standard techniques. Therefore, OGM emerges as a powerful tool that provides complete and evaluable results in hypocellular BMFSs, reducing multiple tests into a single assay and overcoming some of the main limitations of conventional techniques. Furthermore, in addition to confirming the abnormalities detected by conventional techniques, OGM found new alterations beyond their detection limits. Full article
(This article belongs to the Special Issue Diagnosis and Therapies for Rare Diseases)
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-1
Back to TopTop