Special Issue "Advances in Molecular Diagnostics"

Guest Editor
Prof. Dr. Renata Pasqualini
Department of Genitourinary Medical Oncology - Research, Division of Cancer Medicine, The University of Texas M. D. Anderson Cancer Center, 1515 Holcombe Boulevard, Unit 0018-1, Houston, TX 77030, USA
Website: http://faculty.mdanderson.org/Renata_Pasqualini/Default.asp?SNID=0
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Guest Editor
Prof. Dr. Wadih Arap
Department of Genitourinary Medical Oncology, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Boulevard, Unit 1374, Houston, TX 77030, USA
Website: http://www.mdanderson.org/labs/pasqualini
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Submission

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. Papers will be published continuously (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as 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 refereed through a peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences 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 1400 CHF (Swiss Francs).

Type of Paper: Review
Title: High Resolution Melting (HRMA): Alternative and Standardized Tool in Clinical Molecular Diagnostic
Author: Angelo Minucci
Affiliation: Laboratory of Clinical Molecular Biology, Institute of Biochemistry & Clinical Biochemistry, University Hospital A.Gemelli, Catholic University of the Sacred Heart, Rome, Italy; E-Mail: angelo.minucci@virgilio.it
Abstract: Although direct DNA sequencing is considered as a “gold standard” for genotyping of known or unknown mutations, it still remains relatively expensive, laborious and time consuming. HRMA is a simple, rapid and low cost method for mutation scanning. Due to the useful features of HRMA on small amplicons, this technique is currently being introduced into diagnostic laboratories for genotyping of disease-associated genes. According to the “OECD guidelines for Quality Assurance in Molecular Genetic Testing”, there is an obligation for diagnostic laboratories to provide high quality results. Therefore, all methods used for routine clinical molecular biology must be duly validated prior to their introduction in diagnostics. For this reason, we believe that some suggestions and indications regarding validation-related parameters for the diagnostic setting, such as sensitivity, specificity, precision and robustness, should be of help for laboratory medicine specialists.

Title: Use of the MLPA Assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases
Author: Liborio Stuppia et al.
Affiliation: Department of Biomedical Sciences, G. d'Annunzio University Foundation, Chieti-Pescara 66013, Italy; E-Mail: stuppia@unich.it
Abstract: MLPA assay is a recently developed technique able to evidence variations in the copy number of several human genes. Due to this ability, MLPA can be used in the molecular diagnosis of several genetic diseases whose pathogenesis is related to the presence of deletions or duplications of specific genes. Moreover, MLPA assay can also be used in the molecular diagnosis of genetic diseases characterized by the presence of abnormal DNA methylation. Due to the large number of genetic disease that can be analyzed with a single technique, MLPA assay represents the gold standard for the molecular analysis of all pathologies derived from the presence of gene copy number variation.

Title: New Challenges of Molecular Diagnostics in Amyotrophic Lateral Sclerosis
Authors: G. Siciliano, C. Carlesi, G. Ricci and F. Fornai
Affiliation: Department of Neurosciences, University of Pisa, via Roma 67, 56126 Pisa, Italy; E-Mail: g.siciliano@med.unipi.it
Abstract: Amyotrophic lateral sclerosis (ALS) is a rapidly progressive and ultimately fatal neurodegenerative disorder of unknown aetiology that implies the loss of upper and lower motor neurons in the cerebral cortex, brainstem and spinal cord.Despite fail of knowledge on the ultimate cause of the disease, recent studies have provided important insights into new molecular pathogenetic mechanisms of the disease, these in turn suggesting new biological markers as possible tools for diagnostic and prognostic purposes. This review explores the recent progress made in this field with the aim to underline which putative role can be assigned to these molecular biomarkers detected thank to the application of laboratory advanced technologies in ALS.