Jackson Cook, Colleen K PHD

This conference provides an innovative approach for advancing research participation opportunities and knowledge sharing related to mosaic and non-mosaic Down syndrome, by bringing researchers/professionals to self-advocates and their family members/care providers in a collaborative and supportive setting that is most convenient for the participants. This conference will also: (1) build and/or expand relationships among researchers, clinicians, social scientists, educators, and members of the mosaic/non-mosaic Down syndrome community; and (2) provide a means for reducing disparities in knowledge and/or research participation opportunities by focusing on the inclusion of people who have an uncommon form of Down syndrome (called mosaic Down syndrome) and by targeting recruitment activities and strategies to enhance the inclusion of participants and trainees from minority groups.

Down syndrome is associated with many health conditions, including ones that result in developmental problems, as well as disorders that are acquired with aging (such as early onset Alzheimer-like dementia, hearing loss; cataracts; and inflammation-related conditions). The overall goal of this study is to identify biological changes related to cytoplasmic self-DNA that are acquired with age (body cell chromosomal changes, telomere shortening, senescence, and/or epigenetic alterations) as a result of a trisomic imbalance for chromosome 21 in people with mosaic Down syndrome; with the expectation that this knowledge will provide foundational information needed to develop new health screening tests and/or treatments.

As the most common genetic cause of intellectual disability, Down syndrome is a public health concern. The proposed research will create new models of Down syndrome to advance the study of Down syndrome neuropathophysiology. The aims of this proposal include generating Down syndrome-specific human pluripotent stem cells from non-embryonic sources.