Biomarkers in Rare Genetic Diseases [chapter]

Chiara Scotton, Alessandra Ferlini
2016 Role of Biomarkers in Medicine  
Biomarkers offer a way to speed up medical research by shedding light on the physiopathological mechanisms of disease. Furthermore, biomarkers are considered invaluable tools for monitoring disease progression, prognosis, and response to drugs, especially in clinical trials, where they can be used to assess the efficacy, efficiency, and side effects of novel drugs. Biomarkers also pave the way to personalised medicine, a rapidly developing field that is of particular interest in rare diseases
more » ... Ds), i.e. those with a prevalence of less than 5/10,000, which are often genetic in origin. Although rare genetic diseases may be less appealing targets for pharmaceutical companies, they are nevertheless in urgent need of research into their diagnosis, prevention, treatment, and standards of care. Here we summarise the state of the art in RDs, genetic diagnosis, and novel strategies aimed at accurately identifying and defining gene mutations, and review the evidence emerging from the latest research and clinical trials. We focus in particular on novel biomarkers, describing the different types discovered so far, highlighting their importance and indicating how they may be translated into research, diagnostics, treatment, and preventative applications in personalised strategies for RDs.
doi:10.5772/63354 fatcat:pyhrqcfpqzcmfnhje77jhm42pa