Decoding disease with biomarkers

“Every disease creates subtle biological footprints—changes in our organs, tissues, cells, or body fluids—as it emerges, progresses, or recedes,” says Danielle. “Biomarkers give us the tools to find and interpret these changes, allowing us to potentially evaluate disease risk, enable diagnosis, or monitor prognosis or response to treatment.” 

Danielle and her team are driving biomarker innovation across Biogen’s portfolio. Her team’s vision is to redefine how biomarkers are applied—and for all investigational programs and marketed products at Biogen to be fueled with insights from biomarkers, to develop the best options for patients. 

“We take a fundamentally different approach to biomarkers at Biogen,” adds Jane Grogan, Ph.D., Head of Research. “The work of this team spans all disease states and is powered by deep and dynamic internal expertise, paired with partnerships with academic experts and specialized companies. We embed this capability within Research so that biomarker strategy informs our thinking from the earliest stages of drug development.”

The next potential game-changer in Alzheimer’s disease

Biogen’s biomarkers leadership has transformed Alzheimer's research and treatments. Biogen was the first to use positron emission tomography (PET) imaging of β-amyloid plaques to confirm disease pathology in its trials—enrolling patients most likely to benefit from treatment.^1,2,3 PET imaging of β-amyloid plaques has become the gold standard in diagnosing Alzheimer’s disease and monitoring the response to anti-amyloid treatment response. 

“Focusing on patients who had Alzheimer’s, and not other forms of dementia, was a paradigm shift for the entire field,” says Danielle. “It enabled Biogen to demonstrate for the first time the potential benefit of removing β-amyloid plaques, paving the way for the first class of approved anti-amyloid treatments for patients.”

Now, Biogen is looking to the next frontier: blood-based screenings. These tests are more accessible, cost-effective, and scalable than the current imaging tools. Long-standing partner Fujirebio incorporated Biogen’s disease biology knowledge and partnership into their development of the first FDA-approved blood-based test for β-amyloid. Biogen’s ongoing collaboration with Beckman Coulter and Fujirebio aims to further refine blood-based testing to identify subgroups of patients or monitor treatment response.

Driving results in rare diseases

Biogen’s pioneering work in biomarkers is perhaps best exemplified by the work to establish neurofilament light chain (NfL), tiny structural proteins that act like scaffolding inside healthy neurons, as a key biomarker for neuromuscular diseases. The US FDA approval of the first treatment for SOD1-ALS⁴—a rare genetic form of amyotrophic lateral sclerosis (ALS)—was based on data showing that NfL levels in cerebrospinal fluid and blood could reflect disease progression and therapeutic impact.

This innovation for patients—decades in the making—reflected the collaborative research efforts of multiple partners internally and externally. Ultimately, Biogen’s clinical studies and leadership in NfL and in ALS gave regulators the confidence to adopt NfL as a biomarker with the potential to predict clinical benefit, paving the way for the first approved therapy for SOD1-ALS.

Today, NfL is an invaluable tool for data-driven decision-making in ALS R&D. When a Biogen program studying a more common genetic form of the disease did not demostrate reductions in NfL levels in a Phase 1 study, clinical development was halted. 

“Biomarkers don’t just guide us forward—they can tell us when to stop too,” says Danielle. “These tools allow us to make decisions earlier in the drug development process and strategically deploy our resources and focus on the programs with the highest probabilities of success to benefit patients and their families.”

Expanding in immunology

As Biogen’s immunology portfolio grows, so does its biomarker expertise in autoimmune disorders. Danielle and her team are now combining innovative use of established biomarkers with emerging technologies into novel options.  

In lupus for example, the rapid and sustained reduction of type I interferon (IFN) gene signatures and IFNα serum concentrations have helped demonstrate pharmacodynamic effects in one of Biogen's Phase 2 studies.⁵ These biomarker data correlated with clinical responses providing support for the mechanism of action of the drug. 

Looking ahead, Biogen is partnering with specialized companies and academic labs to validate exploratory translational methods, and advance new technologies, with a goal of understanding the biological impact of existing treatments, identifying patients who may benefit the most, and translating clinical data to identify new mechanisms, tackle new diseases or enhance efficacy.

A toolbox for the future

By leveraging advanced chemistry and imaging methodologies, the team achieved a first-of-its-kind milestone: mapping the distribution of an intrathecally administered drug across the human central nervous system over multiple days. This landmark technical achievement will help inform the development of potential future therapies.⁶

“The beauty of biomarkers is that they cut across all aspects of disease biology and the research and development of new medicines,” concludes Danielle. "The power of biomarkers lies in their potential to accelerate R&D and increase the impact of those medicines for patients." 

Looking ahead, Biogen is also applying advanced computational and AI-powered approaches to uncover biomarker signals, revealing biological impact earlier than before, with the goal of helping guide faster, smarter R&D decisions.

From Alzheimer’s disease to ALS to autoimmune disorders, Biogen is leading the way in decoding disease—and transforming the future of medicine.