Arts & Sciences Magazine

By Emma Foehringer Merchant

More than 55 million people across the world cope with Alzheimer’s disease and other dementias. A small subset—around 2 percent of cases—have a rare, inheritable form called autosomal dominant Alzheimer’s disease, which sets in at an early age, with symptoms sometimes appearing in a person’s 30s. As is the case for all types of Alzheimer’s, there is no cure.

Yakeel Quiroz, a Boston University College of Arts & Sciences professor of psychological and brain sciences, hopes to change that. She started working with people affected by this form of Alzheimer’s disease more than two decades ago, as a student at the University of Antioquia in her native Colombia. Working in the lab of neurologist Francisco Lopera, Quiroz (GRS’06,’13) began investigating the opaque genetic origins of the disease and how science may be able to delay or alleviate its symptoms.

“At that time, there were no treatments,” she says.

The US Food and Drug Administration has since approved two treatments that can help slow the progression of Alzheimer’s. Still, much remains a mystery to scientists, such as precisely what puts some people at increased or reduced risk to develop the disease. “We still don’t have the answers,” says Quiroz.

She brought her expertise—and at least five ongoing studies involving thousands of patients—to BU in fall 2025. Quiroz’s appointment was, in a sense, a homecoming. After completing college in Colombia, she emigrated to Boston, where she earned her master’s in psychology and a PhD in clinical psychology from Boston University. Both degrees involved continuing to work with Colombian families touched by autosomal dominant Alzheimer’s.

Today, Quiroz’s patient cohort includes about 6,000 people, mostly based in the Colombian state of Antioquia, where she grew up. When people agree to join the study, they undergo genetic testing to establish whether they carry any of the handful of genetic mutations that give rise to the disease. By identifying mutations, the research team in Quiroz’s Multicultural Alzheimer’s Prevention & Protection Lab can track how the disease develops over time.

Quiroz’s work monitoring the same patients over decades has shed light on disease pathology and trajectory. But it has also yielded potential insights about how the disease may be avoided.
After identifying the genetic mutations connected to this rare form of the disease, Quiroz and her team felt they had concrete answers about some of the earliest physiological changes present in those who develop autosomal dominant Alzheimer’s disease. But over the years, they began to notice that a handful of those in their study population surprised them: They never developed dementia, even if a relevant mutation was present. “The focus before was characterizing what we call the typical form of the disease. That’s what we did first,” says Quiroz. “Then we started noticing that we have people that were carriers of autosomal dominant mutations, but they were older than 60 and have no memory impairment.

In total, they have identified 3 extremely protected individuals, and more than 120 who have moderate protection despite carrying deterministic genetic mutations. Now, her team is working to identify the mechanisms that may explain the neuroprotection observed in these individuals, and to determine whether these insights may provide clues to delay the onset of the disease in others. Thus far, they have learned that some people have protective mutations that delay the disease by staunching the accumulation of a protein called tau associated with cognitive decline in Alzheimer’s disease. One of the protective mutations is the APOE3 Christchurch mutation. Depending on the number of copies of the Christchurch mutation a person has, the disease may be delayed by years. One patient in the study group named Doña Aliria Piedrahita carried two copies of the protective mutation and lived without symptoms for three decades, despite also carrying the genetic mutation that leads to dementia. After Aliria died, her family donated her brain to Lopera’s group, where the research team was able to show that her protective mutation guarded her against tau pathology, neuroinflammation, and cerebral vascular disease. The team, in collaboration with researchers at Harvard Medical School, is now testing an antibody in animal models that may replicate those protective attributes.

“In the coming years, we may have an option to help individuals at increased risk delay the onset of cognitive impairment,” says Quiroz.

Building on her work with families in Colombia, Quiroz is now working to understand the development of the disease in the US’s Latino diaspora. She launched The Boston Latino Aging Study in 2021 to better understand the cognitive trajectory for Latinos living and growing old in the US.

Qurioz’s team is also looking at factors that could help people become more resilient to the disease, even if they are genetically predisposed to it. That includes not only genetic factors, but also those associated with socioeconomic background, education, and other lifestyle factors.

“In many ways, we are leading the way. There just are not many researchers diving into this,” says Quiroz. Most researchers, “focus on risk factors and disease mechanisms, but we are working to understand how we can boost resilience and strengthen our natural protections.”

Lopera, Quiroz’s mentor and former professor, passed away in 2024. But his legacy lives on with Quiroz’s continued efforts to uncover the mysteries of Alzheimer’s within the study population he helped assemble, and in her mentorship of younger students. Quiroz moved to BU, in part, because her work as a young student kicked off a lifelong research interest and she hopes inviting younger researchers into her lab will do the same. Today, she has five PhD students and three undergraduate students working in her lab.

“I hope to inspire more people to get excited about Alzheimer’s research and the fields of neuroscience and neuropsychology,” she says.