Busciglio Lab

University of California-Irvine

OTHER BASIC SCIENCES

Irvine · United States

NIH-funded
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NIH R01 · 2025

The role of immune deregulation and NGF dysmetabolism in the development of Alzheimer disease in individuals with Down syndrome

PROJECT SUMMARY/ABSTRACT Down syndrome (DS) is a developmental genetic condition caused by trisomy of human chromosome 211-6. DS occurs in approximately 1 in 600-1000 live births and affects more than 300,000 individuals in the USA. Neuropathological and clinical features of Alzheimer’s disease (AD) present early in life through the seventh decade in a predictable sequence of events, and include amyloid plaques, neurofibrillary tangles, nerve growth factor (NGF) dysmetabolism and cholinergic basal forebrain degeneration, CNS inflammation, and cognitive decline1-10. DS is an outstanding natural genetic model for the study of AD pathophysiology, AD biomarkers research and to conduct…

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