Genetic/Epigenetic factors contributing to chromosomal instability that arises due to aging, a trisomy 21 imbalance, or exposure to chemotherapy
Colleen Jackson-Cook, PhD, FACMG is the director of Cytogenetics at VCU. She is an American Board of Medical Genetics and Genomics certified clinical cytogeneticist, PhD medical geneticist, and founding fellow of the American College of Medical Genetics. Her research focuses on quantifying acquired chromosomal instability, telomeric length alterations, and epigenetic changes that arise in somatic cells and identifying genetic and environmental factors that influence the acquisition of these cytogenetic/epigenetic changes. Her research also includes assessments of the phenotypic outcomes associated with the acquisition of somatic cell cytogenetic/epigenetic alterations and the role that these cytogenetic/epigenetic changes play in mediating adverse, often age-related, health outcomes.
Research projects that are ongoing in her lab include:
- studies of chromosomal abnormalities acquired with aging using a twin study design;
- epigenetic and chromosomal changes acquired by women who develop adverse psychoneurological symptoms following their receipt of chemotherapy for breast cancer;
- epigenetic and chromosomal changes associated with a history of adversity (childhood sexual abuse; dating violence) using a discordant identical twin study design; and
- karyotypic, epigenetic, and phenotypic studies of people with mosaicism for Down syndrome.
Her lab has the largest international study of people with mosaicism for trisomy 21 and is expanding this area of research in collaboration with the International Mosaic Down Syndrome Association (which is a support group that formed from her research studies).
The results of her research will provide opportunities for the development of biomarkers to identify “at risk” individuals and for the development of interventions to alleviate adverse health outcomes since the epigenetic (and potentially cytogenetic) acquired changes are thought to be reversible. In addition to her research (and clinical) activities, she is active in teaching and enjoys training students.