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Maria Stella Graziani

Deputy Director
Martina Zaninotto

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Ferruccio Ceriotti
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Bruna Lo Sasso
Giampaolo Merlini
Martina Montagnana
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Matteo Vidali

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Francesco Busardò

International Advisory Board Khosrow Adeli Canada
Sergio Bernardini Italy
Marcello Ciaccio Italy
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Philippe Gillery France
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Eric Kilpatrick UK
Magdalena Krintus Poland
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Giuseppe Agosta

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ISSN print: 0393 – 0564
ISSN digital: 0392- 7091

BC: Articoli scritti da M. Lucarelli

Consensus 2019 per l’analisi genetica in Fibrosi Cistica: presentazione del Documento
Presentation of the Consensus Document 2019 on the genetic analysis of Cystic Fibrosis
<p>The causative gene of Cystic Fibrosis (CF) is the Cystic Fibrosis Transmembrane conductance Regulator (CFTR). Although monogenic, CF has a complex genotype &ndash; phenotype relationship mainly originated by the high number of CFTR variants, the challenging mutational analysis, the incomplete functional knowledge and the variable clinical outcome of most variants, the action of modifier genes. This complexity affects diagnosis, prognosis and precision&nbsp;therapy. A correct and complete genetic analysis is crucial for all these aspects. The Consensus Document 2019 on the genetic analysis of CF (1S) provides a guidance to practitioners for the appropriate request and proper use of genetic testing in CF, as well as for the correct interpretation of the test result. It is to be hoped that the broad sharing achieved between the scientific societies involved can standardize the approach at national level and can improve the usefulness of the information provided to users, as part of a continuous process of improvement.</p>
Biochimica Clinica ; 44(4) 397-399
Documenti SIBioC - SIBioC Documents
La metilazione del DNA nella diagnostica: stato dell’arte e prospettive
DNA methylation in diagnostics: state of the art and perspectives
A. Fuso  |  M. Lucarelli  | 
<p>DNA methylation is the most known and studied among the epigenetic modifications; these are chemical modifications occurring on DNA or histone proteins, able at modifying the transcriptional efficiency of genes. DNA methylation consists in the binding of a methyl group (-CH3) on the carbon n. 5 of a cytosine moiety. Recently, it has been demonstrated that methylated cytosines can be further modified to hydroy-methyl-cytosines, but it is still unclear whether this transformation is just a demethylation intermediate or it canretain the functional role of an independent epigenetic modification. At first, DNA methylation has been studied for itsphysiological role in the regulation of one expression during the different stages of the cell life, particularly duringdifferential and embryogenesis. Then, during the last thirty year, it has been shown that the epigenetic modifications,particularly DNA methylation, are involved in the onset and progression processes of some pathologies. The role of DNA methylation in cancer processes is known since a long time, whereas only recently it becomes evident that this epigenetic modification is a component of some degenerative and aging-associated pathologies, particularly in neurodegenerative and inflammatory processes. Due to the incredible technical advances developed in the last years, it is now possible to study in detail the methylation pattern of a gene sequence with single cytosine resolution, rapidly and with high accuracy and precision. Besides allowing the rapid evolution of our knowledge of the physio-pathological states in which DNA methylation has a functional role, this favourable condition also allows us to consider the possible use of DNA methylation as diagnostic biomarker in different pathologies.</p>
Biochimica Clinica ; 43(4) 413-420
Opinioni - Opinions
Indagini genetiche di nuova generazione e terapia personalizzata: l’esempio vincente della Fibrosi Cistica
Next generation genetic studies and personalized therapy: the successful model of Cystic Fibrosis
<p>Cystic Fibrosis (CF) is a complex genetic disease. The causative gene is the Cystic Fibrosis Transmembrane Conductance Regulator (<em>CFTR</em>). Although monogenic, this disease has a complex genotype &ndash; phenotype relationship. Several factors originate this complexity. The most important are the high number of <em>CFTR</em> mutations, the difficulty of a full mutational analysis, the incomplete knowledge of the functional effect of mutations and their variable outcome, as well as the existence of modifier genes (different from <em>CFTR</em>) that modulate the clinical severity. This complexity impairs the diagnostic, prognostic and therapeutic ability. Next generation sequencing approaches represent a revolution in genetic studies, because of their rapidity, low-cost and high-throughput. They allow a near complete mutational characterization of <em>CFTR</em> mutated genotypes, with the potentiality of studying several other genes involved in CF clinical modulation. These methods are a perfect precondition for personalized therapeutic approaches of CF. In fact, a full genetic characterization appears to be crucial to applying mutation-specific therapies. Drugs specific for some <em>CFTR</em> mutations are already in clinical practice or in phase 3 trials. The enlargement of the CF personalized therapy to an increasing number of mutated genotypes needs a growing knowledge of structural and functional defects of <em>CFTR</em>. The synergy between next generation genetic approaches, the enhancement of the comprehension of molecular mechanisms of <em>CFTR</em> mutations and the spreading of personalized therapies, are revolutionizing the cure of CF.</p>
Biochimica Clinica ; 42(1) 44-50
Opinioni - Opinions