The battle against Alzheimer’s disease is advancing rapidly, thanks to groundbreaking research from the Icahn School of Medicine at Mount Sinai and other institutions around the world. Where there was once a bleak landscape—where diagnosis came too late and with very limited treatment options—there is now hope for researchers, clinicians, and patients as new drugs and imaging technologies become available. With the advancement of diagnostic tools, the research community has its sights set on an even more ambitious goal: preventing or delaying Alzheimer’s disease before it ever takes hold.
“This is why I’m very excited about blood biomarkers,” Dr. Elahi continues. “We’re entering an era where, similar to early cancer detection, we can potentially change the course of Alzheimer’s disease if we catch it early.”
Dr. Elahi isn’t alone in her optimism. “We are really on the verge of revolutionizing medicine here,” agrees Mary Sano, PhD, Professor of Psychiatry and Director of the Alzheimer’s Disease Research Center (ADRC) at Icahn Mount Sinai. These emerging blood biomarkers can be a powerful tool for detecting early signs of brain degeneration, but they’re not yet ready for widespread use.
Mary Sano, PhD, left, Professor of Psychiatry and Director of the Alzheimer’s Disease Research Center, and Fanny Elahi, MD, PhD, Associate Professor of Neurology; Neuroscience; and Pathology, Molecular and Cell-Based Medicine.
“We need more data from a diverse range of people to fully realize the potential of these biomarkers,” says Dr. Sano. “The general public needs to know about these biomarkers, and how they can make them more powerful by participating in research studies.”
What are blood biomarkers and how are they linked to Alzheimer’s disease?
In the past, detecting Alzheimer’s and related degenerative diseases required invasive procedures, like spinal taps, and was typically reserved for patients already experiencing symptoms of cognitive decline. While these work-ups–or comprehensive tests– measure certain proteins, or biomarkers, that are telltale signs of the disease, they silo brain health from the rest of the body, says Dr. Elahi.
Now, researchers and physicians understand that what is present in the brain can be detected in the rest of the body, including blood, opening up new possibilities for early diagnosis. Key blood biomarkers linked to Alzheimer’s include:
- Hyperphosphorylated tau: One hallmark of Alzheimer’s disease is amyloid beta plaque buildup in the brain, and elevated levels of hyperphosphorylated tau in the blood is predictive of amyloid beta brain accumulation. This biomarker can accelerate the diagnosis and help guide the work-up that lead to treatment decisions.
- Neurofilament light (NfL): This structural protein found in neurons and axons is shed when axons degenerate, and is one of the earliest known biomarkers of brain degeneration for Alzheimer’s and other related dementia disorders. NfL levels can provide valuable insight into the disease’s progression
- Glial fibrillary acidic protein (GFAP): This protein is highly expressed by specialized brain cells called astrocytes. Approved by the Food and Drug Administration as a biomarker for traumatic brain injury, several studies show that levels of GFAP are also elevated in patients with Alzheimer’s disease and related dementias.
Paving the way for preventive screening
Blood biomarkers are currently being tested as a diagnostic tool for Alzheimer’s disease, with major efforts like the Davos Alzheimer’s Collaborative leading the charge. Mount Sinai is a key participant in these studies, which currently focus on individuals already showing symptoms.
However, researchers like Dr. Elahi are eager to expand studies to include healthy individuals, aiming to catch the disease before symptoms even appear. Mount Sinai’s ADRC is also at the forefront of this research, studying biomarkers from blood and neuroimaging to enhance early detection. However, to make these tools truly effective for widespread screening, especially in individuals who do not have symptoms, more data is needed from diverse populations.
“We are learning so much, but we need more participants to help use fine-tune these biomarkers,” says Dr. Sano. “We’re on the cusp of making these tools useful to clinicians and to the broader public.”
How you can help make preventive screening a reality
Participating in Alzheimer’s research is a vital step toward turning these promising biomarkers into reliable tools for prevention. Signing up for an Alzheimer’s disease research center registry is a good start, says Dr. Sano. The team at Mount Sinai will reach out to interested individuals offering various ways to participate.
Diversity in these studies is crucial. “Different factors, like comorbidities, can influence biomarker levels, and we need to understand these nuances,” says Dr. Elahi. Historically, Alzheimer’s research has been predominantly white-centric, but the disease affects people of all backgrounds. To create effective screening tools, the research community needs participants from a wide range of medical, socioeconomic, gender, age, race, and ethnic backgrounds.
“We need to shift our thinking from treating Alzheimer’s disease to preventing it,” says Dr. Sano. This message is going to be important for people in their 30s, 40s, and 50s, so they can take appropriate steps, such as screening or adjusting lifestyle habits, to reduce or delay the risk.
“New tools, such as blood biomarkers, that push the frontier of early detection will impact what we learn about the causes of disease and eventually revolutionize treatments,” says Dr. Elahi.