Grants

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

Summary

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.