Biomarkers and genetic risks

Giuseppe Novelli

Research output: Chapter in Book/Report/Conference proceedingChapter


The introduction of molecular genetics into medicine has made it clear that themaxim that a single disease has a single treatment no longer holds true. This isparticularly true for muscular disorders, which usually originate by mutation of one gene,but involve many biological processes (metabolism, cell communication, tissueregeneration and remodelling) and molecules. The tissue target of muscular dystrophies(MD) is the muscle, but different cells within the same tissue can be affected withimportant functional consequences that necessitate an integral and systematic approach.In addition, muscular dystrophies also differ between patients according their individualgenometype. All of this variability must be taken into account when designing treatmentsfor muscular dystrophies. Therefore it is necessary to take the characteristics of thepatient into account, to predict the responses to treatment. This approach is commonlyreferred to as "personalised" or "stratified" medicine. (Swanton & Caldas, 2010; Novelli,2010). Personalised medicine, is based on the use of information from genomes and theirderivatives (RNA, proteins, and metabolites) to guide medical decision about diagnosis,prognosis and therapy. This goal can be reached only using a good biomarker that shouldexplains either the disease at the molecular level or the response to treatment. Thepresence or absence of a biomarker can be used to guide treatment choices and to identifytargets for drug development. There is a huge demand for the development of new drugsto improve treatment. This demand has arisen due to the gradual change in the nature oftherapy in recent years with the introduction of orphan drugs (McNeil et al. 2010). Asbiomarkers begins to embrace genomic tools, the fundamentals of personalized medicinewill require the development, standardization, and integration of several important toolsinto health systems and clinical workflows. These tools include health risk assessment,family health history, and clinical decision support for complex risk and predictiveinformation.

Original languageEnglish
Title of host publicationMuscular Dystrophy: Causes and Management
PublisherNova Science Publishers, Inc.
Number of pages8
ISBN (Print)9781626184602
Publication statusPublished - 2013

ASJC Scopus subject areas

  • Medicine(all)
  • Neuroscience(all)


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