Expanding Genome Integrity Assays to Population Studies

This list entails grantees funded through the Expanding Genome Integrity Assays to Population Studies (U01) Research Project Cooperative Agreement (RFA-ES-17-006).

Supported projects both develop novel technologies and continue to improve on existing ones. Many of these assays and approaches have been tested, mainly in laboratory settings, and are now being pilot tested in population-based and clinical studies using accessible biological samples, such as blood, buccal, and skin samples, to reflect DNA damage and repair in target tissues (e.g., lung, breast, or brain). These novel assays measure responses in individual DNA repair pathways (Base-Excision Repair, Nucleotide-Excision Repair, Non-Homologous End Joining, MisMatch Repair), as well as mutational changes that occur when DNA damage is not properly repaired. These approaches are being pilot tested in human studies that evaluate cancer of the lung, breast, and skin; pulmonary disease; neurodegeneration; premature aging syndromes; and a rare skin disease called xeroderma pigmentosum.

Albert Einstein College of Medicine
Assessing genome sequence integrity in normal human cells
Principal Investigators: Jan Vijg, Ph.D., Simon Spivack, M.D.

Columbia University
DNA Repair Phenotype: The Missing Link in Breast Cancer Risk Assessment
Principal Investigator: Mary Beth Terry, Ph.D., David Brenner, Ph.D., Benjamin Tycko, M.D., Ph.D., Hui-Chen Wu, Ph.D.

Fred Hutchinson Cancer Research Center
PREcision Disease preventIon via somatiC muTagenesis enumeration (PREDICTION)
Principal Investigator: Eric Holland, M.D., Ph.D., Christopher Li, M.D., Ph.D.

Harvard University
Multi-Pathway DNA Repair Capacity Measurements in Lung Cancer Patients and Healthy Controls
Principal Investigators: Zachary Nagel, Ph.D. (Harvard), and David Christiani, M.D., Ph.D. (Harvard), Bevin Engelward, Ph.D. (MIT)

Lovelace Biomedical & Environmental Research Institute
DNA Repair Capacity Assays for Lung Disease Risk Assessment
Principal Investigator: Steven Belinsky, M.D., Ph.D.

University of Minnesota
Measuring Nucleotide Excision Repair in Human Populations
Principal Investigator: Laura Niedernhofer, Ph.D.

University of South Alabama
Measuring genomic DNA damage and DNA repair capacity in longitudinal population samples - a step towards precision prevention
Principal Investigator: Robert Sobol, Ph.D.