People with Down syndrome (DS) have a 90% lifetime risk of developing Alzheimer disease (AD) — a significantly greater likelihood than the general population.
Elizabeth Head, PhD, a dean’s professor and vice chair for research in the department of pathology and laboratory medicine at the University of California, Irvine, has spent more than 25 years studying this link, with a goal of identifying targets for interventions that could slow or prevent the development of AD in people with DS.
On July 28, she will deliver a powerful
plenary presentation at ADLM 2026, in which she shares wisdom from her professional journey and insights into the state of current research on DS and AD, and the critical role that clinical laboratorians play in it.
Head said she “stumbled” into this field through her mentor, Ira Lott, MD, emeritus professor of pediatrics and neurology at the University of California, Irvine, who treated children with DS in his clinic. Lott noticed that, as his patients transitioned into adulthood, they really didn’t have a place to go for adult care. So he decided to keep them in the clinic. Because the risk of developing AD is so high for people with DS, he observed that many of his patients developed dementia in real time.
The start of Head’s career also coincided with researchers starting to understand the genetic underpinnings of AD. Specifically, they uncovered the possibility that the high risk of AD in people with DS is tied to overexpression of the genes on chromosome 21, which DS patients have an extra copy of.
Collaborating across genomics, imaging, and biomarkers, and neuropathology Head brings a valuable multidisciplinary perspective to her work. She seeks to better understand AD biomarkers in DS patients at every stage of disease progression, including looking at the brains of these individuals after they pass away.
“You need all those pieces to come together, especially if you want to develop new biomarkers for disease, to help us understand when someone will transition (to dementia),” Head said. The neurobiology is critical for understanding molecular mechanisms that give us our intervention points to what pathways are changing that we can modify, she added.
Head will also discuss the work of the Alzheimer Biomarker Consortium–Down syndrome (ABC–DS), where she serves as a coprincipal investigator. The group is using neuroimaging and fluid biomarker outcomes from a cohort of 550 people with DS over the age of 35 to assess physiologic and neurological changes over time. In addition to identifying informative AD biomarkers, ABC-DS researchers are supporting clinical trials and investigating individual variability in biomarker outcomes. For example, identifying which people with DS are resistant to developing AD could inform precision-medicine approaches to care.
AD in DS is also unique in that Alzheimer’s typically progresses very predictably, with plasma changes, imaging changes, and even neuropathology highly linked to their age. In fact, when researchers use age on the X axis of a graph, they can plot those biomarker changes on the Y axis, Head said. “We can’t do that with the general population because age of onset of Alzheimer’s disease varies widely.”
Currently, an estimated 220,000 people with DS live in the United States alone. In addition to informing their care, this research will be relevant to everyone else, too. “People with DS are really going to benefit, and they’ll be trailblazers in terms of prevention studies, because we know exactly when these pathologies develop,” she said.
If studies are successful in people with DS who have AD, those findings “should immediately translate to the general population,” Head said. “I’m pretty convinced it’s going to help everyone.”
Jen A. Miller is a freelance journalist who lives in Audubon, New Jersey.
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@byjenamiller.bsky.social.
