Genomic Medicine: Lessons Learned From Monogenic and Complex Bone Disorders


Current genetic studies of monogenic and complex bone diseases have broadened our understanding of disease pathophysiology, highlighting the need for medical interventions and treatments tailored to the characteristics of patients. As genomic research progresses, novel insights into the molecular mechanisms are starting to provide support to clinical decision-making; now offering ample opportunities for disease screening, diagnosis, prognosis and treatment. Drug targets holding mechanisms with genetic support are more likely to be successful. Therefore, implementing genetic information to the drug development process and a molecular redefinition of skeletal disease can help overcoming current shortcomings in pharmaceutical research, including failed attempts and appalling costs. This review summarizes the achievements of genetic studies in the bone field and their application to clinical care, illustrating the imminent advent of the genomic medicine era. Copyright © 2020 Trajanoska and Rivadeneira.

Authors Trajanoska K, Rivadeneira F
Journal Frontiers in endocrinology
Publication Date 2020;11:556610
PubMed 33162933
PubMed Central PMC7581702
DOI 10.3389/fendo.2020.556610

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