Discovery of biomarkers in rare diseases: Innovative approaches by predictive and personalized medicine
| Autor: | Matthias Kohl, Rıza Köksal Özgül, Ayse Yuzbasioglu, Basri Gülbakan, Hans-Peter Deigner, Meral Özgüç |
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| Přispěvatelé: | Publica |
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Biomarker panels Drug targets Population Context (language use) Review Bioinformatics Delayed diagnosis 03 medical and health sciences 0302 clinical medicine Drug Discovery Individualized therapy Effective treatment Medicine 030212 general & internal medicine Biomarker discovery Innovation education Biobank Multi-omics education.field_of_study business.industry Health Policy Biochemistry (medical) Prognosis Rare diseases 3. Good health 030104 developmental biology Screening Identification (biology) Personalized medicine sense organs business Predictive preventive personalized medicine |
| Zdroj: | The EPMA Journal |
| Popis: | There are more than 8000 rare diseases (RDs) that affect >5 % of the world's population. Many of the RDs have no effective treatment and lack of knowledge creates delayed diagnosis making management difficult. The emerging concept of the personalized medicine allows for early screening, diagnosis, and individualized treatment of human diseases. In this context, the discovery of biomarkers in RDs will be of prime importance to enable timely prevention and effective treatment. Since 80 % of RDs are of genetic origin, identification of new genes and causative mutations become valuable biomarkers. Furthermore, dynamic markers such as expressed genes, metabolites, and proteins are also very important to follow prognosis and response the therapy. Recent advances in omics technologies and their use in combination can define pathophysiological pathways that can be drug targets. Biomarker discovery and their use in diagnosis in RDs is a major pillar in RD research. |
| Databáze: | OpenAIRE |
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