A mosaic Down syndrome model system comparing isogenic trisomic/disomic cells to unmask trisomy-21 related genomic, epigenomic, and senescence changes acquired across the lifespan

Jackson Cook, Colleen K


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.