Stanford Psychiatry researcher receives grant to advance the understanding of the interaction between Down syndrome and Alzheimer's disease pathology

September 12, 2023

Jennifer Bruno, PhD

Congratulations to Stanford Psychiatry’s Jennifer Bruno, who was awarded a grant from the National Institute on Aging titled “Toward a neuroscientific understanding of the interaction between Down syndrome and Alzheimer's disease pathology.”

Dr. Bruno is a Senior Research Scholar working with research mentor Hadi Hosseini, assistant professor of psychiatry and behavioral sciences, on projects that combine information from genetics, brain imaging and deep behavioral phenotyping using computational methods to understand complex, multidimensional phenotypes.

The study will integrate advanced multimodal neuroimaging and fluid biomarkers to predict Alzheimer’s disease (AD) neuropathology and hallmark neuropsychological symptoms before the onset of dementia.

Neurodegenerative changes associated with AD are present in almost all individuals with Down syndrome (DS) by age 40 years, and the lifetime risk of developing dementia is more than 90% in this population. Understanding patterns of neuropsychiatric and pathological brain changes before AD diagnosis is critical for facilitating interventions prior to the onset of irreversible neuropsychiatric and pathological brain changes. However, charting of pathological brain changes and diagnosis of dementia is extremely challenging in individuals with DS who have brain and neuropsychological differences present through the lifespan.

This project uses a computational neuroscientific framework which will utilize conventional resting state functional MRI, advanced quantitative MRI and multimodal biomarker data to disentangle brain and neuropsychological changes specific to DS and AD (within the context of DS). Specifically, Dr. Bruno and the research team will test the overarching hypothesis that whole brain connectivity and brain microstructure represent intermediate phenotypes between primary brain pathologies and neuropsychological outcomes in DS and AD.

Together, the results of this proposal will advance a mechanistic understanding of DS- and AD-specific pathological brain changes and how reorganization of functional networks relates to neuropsychological changes.

“Alzheimer’s disease pathology accumulates across the lifespan in people with Down syndrome,” says Dr. Bruno. “Thus, Down syndrome represents an ideal model syndrome within which to examine this devastating pathology from a developmental perspective. Not only will the results of this project be informative toward the development of treatments for persons with Down syndrome, they will also be useful in understanding Alzheimer’s disease in the general population.”

Dr. Bruno is a translational researcher at the interface of developmental cognitive neuropsychology and neurobiology. Her research aims to understand the basis of typical and atypical brain development. An overarching goal of her work is to understand when, how, and why individuals with neurodevelopmental and neuropsychiatric disorders fall off the trajectory of typical brain development. Recent publications written by Dr. Bruno and colleagues include “Altered canonical and striatal-frontal resting state functional connectivity in children with pathogenic variants in the Ras/mitogen-activated protein kinase pathway” published in the journal Molecular psychiatry and “Brief intensive social gaze training reorganizes functional brain connectivity in boys with fragile X syndrome” published in the journal Cerebral cortex.

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