Human complex diseases such as common cancers and diabetes are characterized by high molecular heterogeneity contributed by both genetic and non- genetic factors. This molecular heterogeneity can not only complicate diagnosis, risk stratification and patient care, but also lead to differential therapeutic response and treatment efficiency. Therefore, understanding the molecular mechanisms underlying the complexity and heterogeneity of complex diseases may lead to more effective pharmacotherapies and better outcomes. In addition, lack of effective biomarkers that could be utilized for clinical applications such as early detection and longitudinal surveillance of disease progression poses further challenges in improving clinical outcomes and life quality in patients. Although numerous genetic variants have been appreciated and exploited for the precision medicine of complex diseases, few of them are of clinical relevance and they may only explain partially the observed complexity. Epigenetic modifications, as the mediator between genetic and non-genetic factors, contribute extensively to the molecular heterogeneity and various biological processes including disease pathogenesis. Technological advances in epigenomic profiling during the past decades have significantly expanded our capability to explore novel epigenetic modifications, such as cytosine modifications, histone modifications, and noncoding RNAs in clinical specimens such as tissue and circulating materials and begun to offer opportunities for precision epigenetic medicine.

Creator

• Zeng, Chang

DOI

• https://doi.org/10.21985/n2-7t4c-vr33

Subject

• Epidemiology
• Bioinformatics

Language

• en

Alternate Identifier

• http://dissertations.umi.com/northwestern:15643
• etdadmin_upload_832581

Keyword

• Complex disease
• Cancer
• Diabetes
• Precision medicine
• Epigenetics

Date created

• 2021-01-01

Resource type

• Dissertation

Rights statement

• In Copyright