Research Partners

International Mosaic Down Syndrome Awareness (IMDSA) benefits from a network of cooperating researchers and institutions and this collaboration improves global awareness and understanding of mosaic Down syndrome. By working together we can be more effective in communicating research-based knowledge to decision makers, help to inform policy and facilitate improved care practices for the future generations.

IMDSA is delighted to introduce some of our key Research Partners.

Colleen Jackson-Cook, PhD


 Colleen Jackson-Cook, PhD

Colleen Jackson-Cook, PhD, FACMG, is a Professor of Pathology, Human & Molecular Genetics, and Obstetrics & Gynecology and serves as the Director of the Molecular Cytogenetic Diagnostic Testing Laboratory in the Division of Molecular Diagnostics at Virginia Commonwealth University. She is board certified as a Clinical Cytogeneticist, as well as a PhD Medical Geneticist, by the American Board of Medical Genetics and Genomics. She is also a founding fellow of the American College of Medical Genetics and Genomics.

Dr. Jackson-Cook received her PhD degree in Human Genetics (with a subspecialty in Cytogenetics) from Virginia Commonwealth University and a master’s degree in Biology from West Virginia University. After completing her Postdoctoral Fellowship in Diagnostic Cytogenetics (under the tutelage of Judith A. Brown, PhD), Dr. Jackson-Cook remained as a faculty member and Associate Director of Cytogenetics at VCU. In 1990 she was recruited to serve as the Director of Cytogenetics at VCU.

Dr. Jackson-Cook is internationally recognized for her work with mosaic Down syndrome and clinical cytogenetics. Additional areas for which she has expertise include acquired chromosomal abnormalities, epigenetics, telomeres, micronuclei, copy number microarrays, and non-mosaic Down syndrome. Her research team has recognized karyotype-phenotype correlations associated with mosaic Down syndrome. Her team has also identified acquired genetic and epigenetic changes associated with aging, stress following childhood adversity, treatments for breast cancer, and fibromyalgia. As a principal investigator, she has received research funding from the National Institutes of Health (NIH) or other sources (Commonwealth Health Research Board, R. Clifton Brooks, Jr. Medical Research Fellowship, and the Jeffress Memorial Trust). She has numerous publications in peer-reviewed journals and books/chapters. She has also published a number of educational documents, as well as a documentary film about Down syndrome (led by Sasha Waters-Freyer), that are directed at patients and their family members, as well as health and educational professionals. She has been invited to give numerous extramural presentations at local, regional, and international meetings including IMDSA’s Research and Retreat Weekends.

Ruth Brown, PhD


 Ruth Brown, PhD

Ruth Brown, PhD, is a Research Associate at Virginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth University.

Dr Ruth Brown’s primary research goal is to examine the developmental pathways of depression and anxiety disorders (e.g., social anxiety, posttraumatic stress disorder [PTSD], etc.) in children and young adults, with the long-term goal of translating these findings into clinical care. Toward this end, she is interested in the development of reliable and valid measures of psychopathology and modifiable, cognitive and affective processes that, when combined with neurological and genetic data, allow for the examination of comprehensive etiological models that can inform treatment. Ruth is particularly interested in the use of multimodal assessment strategies (e.g. self-report, observer-report, behavioral, physiological) to assess these latent constructs across high-risk developmental periods (e.g. adolescence to emerging adulthood) and in high-risk populations (e.g., individuals with developmental disabilities). Ruth Brown’s long-term goal is to develop measures of variables that are critical for the identification of relevant treatment mechanisms and the design of effective and efficient treatment programs.


International Mosaic Down Syndrome Association

PO Box 321, Stow, MA 01775
1-855-IMDSA-21|  Email - President, Brandy Hellard
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