Biomarkers in Focus
eBook
Published: February 23, 2026
Credit: Technology Networks.
Biomarkers continue to transform research and clinical strategies, with growing demands for specificity, sensitivity, and translational relevance. Yet, as the field matures, so do the challenges surrounding validation, standardization, and multiomics integration.
Rapid advancements in AI, assay platforms, and spatial biology now offer powerful tools to meet these demands.
This eBook highlights the emerging trends, technologies, and translational strategies shaping biomarker discovery and its application across oncology, neurology, immunology, and beyond.
Download this eBook to explore:
- Strategies to enable more patient-centric clinical trials through biomarker-informed trial design
- Insights into cancer-specific markers, early detection, and treatment response
- Emerging biomarker approaches in materials science and biosensor development
- Biomarker-driven models advancing neuroscience and neurodegenerative research
BIOMARKERS
IN FOCUS
EEG Biomarkers:
The Future of Monitoring
Neurological Health?
Advances in
Nanomaterials for
Detecting Disease
Biomarkers
The Evolution
of Biomarkers in
Modern Cancer Care
Credit: iStock
CONTENTS
4
Advances in Nanomaterials for
Detecting Disease Biomarkers
8
EEG Biomarkers:
The Future of Monitoring
Neurological Health?
11
How Digital Biomarkers Enable
Patient-Centric Clinical Trials
15
The Evolution of Biomarkers in
Modern Cancer Care
19
The Landscape of Potential
Biomarkers for ADHD
22
The Technique That
Can Distinguish Up-Market
Floral Honey
25
What Blood Biomarkers
Can – and Can’t – Tell Us About
Alzheimer’s
BIOMARKERS IN FOCUS 3
TECHNOLOGYNETWORKS.COM
FOREWORD
Biomarkers are transforming science and healthcare by offering precise, measurable
indicators of health, disease and quality.
From molecular signatures that reveal the earliest stages of disease to chemical fingerprints
that ensure product authenticity, novel biomarkers are reshaping diagnostics, treatment
and monitoring.
This eBook brings together a series of articles exploring the latest advances in biomarker
research, spanning fields such as neurology, oncology, food safety and clinical trial design.
Through expert insights and real-world examples, this collection highlights practical
applications, emerging challenges and opportunities for innovation in biomarker research.
The Technology Networks editorial team
4 BIOMARKERS IN FOCUS
Advances in Nanomaterials for
Detecting Disease Biomarkers
Alex Beadle
The early diagnosis of disease is one of the most
important factors in a patient’s clinical treatment.
Depending on the type of disease, an early diagnosis
may broaden the range of potential treatment options
available, increase the opportunities for informed
decision-making and may even allow for the deployment
of preventative measures that can significantly
improve a patient’s quality of life and odds of making a
full recovery.
The non-invasive detection of disease-related
biomarkers plays a key role in improving the early
diagnosis of disease. In recent years, biosensors capable
of detecting biomarkers in bodily fluids have stood out
as a key technology in this field, largely thanks to their
cost-effectiveness, portability and rapid response times.
Advanced biosensors use nanomaterials to improve
their sensitivity and boost signal amplification.
Functionalized nanomaterials can also be used to
further enhance sensor properties such as resolution,
response time, linearity, repeatability, robustness,
biocompatibility and stability.
This article explores the discovery and continued
development of the nanotechnologies that
are underpinning advancements in biomarker
sensing today.
How do biosensors work?
Biomarkers – a portmanteau of the phrase “biological
marker” – are measurable indicators that can be used
to assess some kind of biological state or condition.
Examples of biomarkers include everything from a
person’s blood pressure and heart rate to genetic
markers and other molecules that can be observed using
modern laboratory science.
Credit: iStock/volodyar
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BIOMARKERS IN FOCUS 5
Two of the most widely used laboratory methods for
biomarker detection and quantification are enzymelinked
immunosorbent assay and polymerase chain
reaction methods. While these techniques do have
many advantages – including high sensitivity, selectivity
and repeatability – they are somewhat limited by their
long response times and their consumption of reagents
required for every analytical run. This makes them a less
practical option for continued monitoring or for rapid
biomarker detection for point-of-care applications.
Biosensors are a leading alternative for biomarker
detection. A biosensor is made up of two main
components: the biosensing component that binds to
the target biomarker, and a transducer that converts
this binding event into a measurable signal for detection.
There are a wide variety of different transducer systems
used in biomarkers, including electrochemical, optical,
gravimetric, colorimetric and field-effect transistorbased
sensors.
Advanced nanomaterials push the
detection limits of biosensors
In recent years, the use of nanomaterials has become a
major focus of biosensor development.
Because of their unique structures and small size,
nanomaterials often display unique electrical, optical,
magnetic and thermal properties that can help to
enhance a particular biological signal and improve the
sensitivity of a biosensor.
For example, functionalized nanomaterials are
frequently used as a substrate modifier in biosensors,
as their high surface-to-volume ratio makes them an
ideal surface for immobilizing analytes of interest.
This effectively increases the density of the biomarker
molecule, improving the overall sensitivity of the
biomarker.
There are many other mechanisms by which
nanomaterials can help enhance the function of
biosensors and many different nanomaterial classes
have been effectively utilized in biosensing.
Metallic nanoparticles
Noble metal (i.e., gold, silver and platinum)
nanoparticles are used extensively in many industrial
and scientific applications, such as catalytic converters,
due to their good stability and ease of modification.
Gold nanoparticles (AuNPs) are of particular interest
for optical and electrochemical biosensors. This is
largely due to their high conductivity, biocompatibility,
stability and the ease with which their surface can be
modified by thiol groups.
Optical biosensors
Optical biosensors work by detecting
changes in light signals (intensity, frequency,
polarization) as a light source interacts with
a biorecognition element that has bound to a
biomarker. Optical biosensors are the most
common class of biosensor.
Electrochemical biosensors
Electrochemical biosensors make use of
changes in electrical properties (current,
potential, impedance, etc.) that can occur
when a bioreceptor and an analyte interact.
In electrochemical biosensing, AuNPs can be
advantageous when the target biomarker molecules are
present in small amounts, and thus the electrochemical
signals are relatively weak. The very high electrical
conductivity of AuNPs allows for the electrochemical
signals from such redox reactions to still be detected
with high sensitivity and selectivity.
Noble metal nanoparticles are also favored in optical
biosensors as their colors can be detected with the
naked eye. Their color may also change depending
on their state, which again is of use in biosensing. For
example, researchers have used surface-functionalized
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BIOMARKERS IN FOCUS 6
AuNPs in biosensing platforms to detect the SARSCoV-
2 coronavirus, relying on the red-to-purple color
change that occurs when AuNPs begin to aggregate
together around a virus particle.
Noble metal nanoparticles have also been used for
viral pathogen detection in electrochemical biosensors,
including for viruses such as SARS-CoV-2, human
immunodeficiency virus, hepatitis, influenza and
Zika virus.
Carbon-based nanomaterials
Carbon nanomaterials are another popular type of
nanomaterial that is commonly incorporated into
optical and electrochemical biosensing platforms.
The unique structure of carbon nanotubes (CNTs)
makes them of great interest for biomarker sensing
applications. The tubular structure results in a very high
surface area-to-volume and aspect ratio, while retaining
good chemical stability and electrical conductivity.
In electrochemical biosensors, CNTs can be used to
increase the active surface areas of the electrodes
and improve electron transfer, which can increase
the sensitivity and lower the limit of detection for
electrochemical sensors.
Modified CNTs have been demonstrated in
electrochemical biosensors that can quantify multiplex
biomarkers in human blood serum for cancer diagnosis.
Multiplex biomarker analysis
Multiplex assays can simultaneously measure
multiple relevant biomarkers in a single
sample, providing a more comprehensive
view of the biological processes at play.
Depending on their physical structure, CNTs may also
have fluorescent properties that can be leveraged for
fluorescence-based optical biosensors.
Graphene – a two-dimensional sheet of carbon atoms
arranged in a lattice – is a useful material for wearable
biosensors, where graphene’s biocompatibility and
flexibility make it uniquely suitable for enhancing
performance in wearable device electrodes. Grapheneenhanced
electrochemical sensor electrodes are a
potential solution for the challenges of real-time health
monitoring and personalized medicine, with this
technology already having been demonstrated in the
real-time non-invasive tracking of biomarkers relating to
inflammation, diabetes, gout and heart diseases.
Quantum dots
Quantum dots (QDs), sometimes known as “zerodimensional”
materials, are traditionally semiconductor
particles (though can also be made of graphene or
regular carbon) measuring less than 10 nanometers in
size, and made up of just a few thousand atoms in total.
At this small size, QDs are strongly affected by quantum
phenomena that play a significant role in how the dots
absorb and emit light. The fact that their behavior can
only be explained by quantum physics – not the laws
of classical physics – has led to QDs being explored
for a vast range of different applications, including in
medicine, batteries, catalysis and as a component of
biomarker-detecting biosensors.
Their strange light absorption properties make QDs a
prime target for use in optical fluorescence biomarker
detection. QDs can be conjugated with antibodies,
aptamers or other molecules that will target a specific
biomarker and act as light-emitting probes for in vitro
assays. Compared to traditional options for fluorescent
dyes, QDs are advantageous as they do not suffer from
the same issues of photo-bleaching and they can be
easily tuned to emit different wavelengths of light.
While research into QDs is still in its relative infancy,
biosensing devices that use QDs have been developed
for detecting biomarkers relating to cardiovascular
disease, tuberculosis and breast cancer.
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BIOMARKERS IN FOCUS 7
Challenges and opportunities in
nanotechnology
Nanomaterials have a very particular appeal for enabling
better biomarker analysis. There is a diverse range of
different materials that offer unique size- and shapedependent
properties that could be used to enhance
analytical biosensors. The potential for nanomaterials
to enable rapid, cost-effective, portable biomarker
test kits is an attractive prospect for those looking
to improve point-of-care diagnostics and continued
health monitoring in individuals suffering from serious
diseases or cancers.
While the future outlook for these systems is
bright, there are still several challenges that these
nanomaterial-enabled biosensors must overcome.
Firstly, while there are some examples of commercially
available biosensors that feature nanotechnology,
the majority of this type of biomarker biosensor
development is in the laboratory research phase and
must still be proven to be commercially viable.
One aspect of this challenge is that synthesizing and
characterizing these nanomaterials often requires
the efforts of very skilled technicians. Ensuring the
reproducibility and stability of nanoparticle-based sensors
as they are produced and used in real-world situations
is also key; for real ease-of-use, a sensor must be stable
enough to analyze whole blood without any additional
sample dilution or processing, for example. With
portability being a desired feature, it is also important
that these technologies can demonstrate a good shelf-life
within reasonable expected temperature conditions.
Despite these challenges, innovation continues to
drive increasingly novel nanomaterials and new ways of
detecting and quantifying disease-related biomarkers.
With the advancement of these technologies,
scientists hope to further improve point-of-care and
personalized diagnostics to deliver the best possible
outcomes for patients.
Credit: iStock/Love Employee
8 BIOMARKERS IN FOCUS
EEG Biomarkers:
The Future of Monitoring
Neurological Health?
Molly Coddington
According to a 2024 study, over 1 in 3 individuals
are affected by neurological conditions worldwide,
with the overall disability-adjusted life years caused
by neurological conditions increasing by 18% since
1990. As the global burden of these conditions – such as
stroke, dementia and epilepsy – rises, there is a growing
urgency to be able to diagnose them earlier and with
greater accuracy.
Dr. Javier Escudero, reader in biomedical signal
processing at the University of Edinburgh, has published
several papers exploring and discussing the potential
role of the electroencephalogram (EEG) as a biomarker
for brain disorders, including Alzheimer’s disease.
Technology Networks had the pleasure of interviewing
Escudero, who discussed how the EEG offers a
unique window into real-time brain activity, why its
affordability, portability and non-invasiveness make it
a strong candidate for remote monitoring and potential
global health applications.
Q: Can you explain why a wider variety
of biomarkers could help to diagnose
neurological disorders, such as neurodegenerative
diseases?
A: Neurodegenerative conditions, such as Alzheimer’s
disease, are very complex and typically develop over
many years. A variety of changes take place in the brain,
Credit: iStock/janiecbros
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BIOMARKERS IN FOCUS 9
and not all of these changes happen at the same time. A
single test or scan may not be able to capture this variety
of processes, and it may not be able to accurately reflect
the evolution of the disease across all its stages.
Having a variety of biomarkers provides more options
for clinical experts to understand what is going on
in the disease process. Biomarkers capture different
phenomena of the evolution of the disease. For example,
an imaging scan may show whether some regions of
the brain have shrunk or whether there is a localized
lesion. A spinal fluid test may pick up a buildup of
abnormal proteins in the brain. These processes happen
at different stages in the disease. Having diverse
biomarkers may also help to distinguish different
types of neurological conditions. The ultimate aim is
to diagnose these conditions earlier so that, hopefully,
disease-modifying drugs can slow disease progression.
Q: What is an EEG, and how might it be
used in clinical practice/ research?
A: An EEG is a test that measures the small electric
fields generated by neurons, the brain’s nerve cells.
Each neuron produces a tiny electrical current when it
becomes active. When enough nearby neurons become
active together, the electric field becomes large enough
so that it can be detected non-invasively, over the scalp,
with appropriate electrodes on the skin.
The voltages captured by these electrodes are then
magnified and recorded by a computer. It is typical to
place 20 or so electrodes on the scalp to capture fields
generated by different brain regions, but, depending on
the application, this number of electrodes could be lower
or much higher. In this way, the patterns captured in the
EEG can tell us a lot about how well the brain functions.
It is common to use the EEG in clinical practice to
diagnose and monitor conditions such as epilepsy.
Though the EEG is not yet accepted as a biomarker for
dementia, or Alzheimer’s disease in particular, there is
increasing interest in this application. There is evidence
that Alzheimer’s disease disrupts how different brain
regions communicate with each other. There is also
increasing interest in enabling the use of EEG as a
remote screening and/or monitoring tool. The EEG
is non-invasive, affordable in comparison with other
neuroimaging techniques and portable.
This makes the EEG an ideal candidate to assess brain
activity remotely, away from hospitals. This could be
valuable, for example, to monitor epilepsy at home or to
assess brain damage after an accident.
Q: Are there research or clinical examples
where the EEG has helped identify
brain-activity-based biomarkers for specific
diseases or conditions?
A: Yes. A notorious example is epilepsy, where EEG is
used in clinical practice to determine the presence and
type of abnormal electrical bursts in the brain that lead
to seizures.
" This makes the EEG
an ideal candidate to
assess brain activity
remotely, away from
hospitals. This could
be valuable, for
example, to monitor
epilepsy at home or to
assess brain damage
after an accident."
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BIOMARKERS IN FOCUS 10
Q: What are the core challenges that
exist in this research field?
A: In the past, the field of EEG analysis has been held
back by a lack of large datasets and standardization
procedures to ensure that EEG data acquired at
different labs can be analyzed together. However, this is
changing rapidly.
Several research groups and consortia are now sharing
EEG data. This facilitates research and helps ensure
that the findings can be generalized to different settings,
importantly low- and middle-income countries. Progress
is being made, but there is still work to be done. Beyond
the availability of data itself, it is important to ensure
that the analysis of EEG that would lead to a potential
biomarker is reliable and not influenced by external
factors that may vary from day to day. It is also important
to ensure that any potential biomarker is not only
sensitive enough to pick up that something abnormal
is going on in the brain, but it is also specific enough to
inform about what the cause of the abnormality may be.
Q: What do you think the future of brain
biomarker research could look like?
A: I envisage “multimodal” biomarkers to inform
clinicians about the “brain health” of a person. These
multimodal biomarkers would combine, with the help
of artificial intelligence, information obtained from
neuroimaging, blood tests, EEG and other methods with
the personal clinical history of the individual. In this
way, they would assist clinicians in achieving patientspecific
early diagnosis of neurological conditions, such
as Alzheimer’s disease.
I think that the EEG has an important role to play in
this future, given its non-invasiveness and affordability,
which enables the possibility to acquire EEG data at
home or in the community, even in combination with
data about the performance of the person on certain
tasks (such as games on tablets or phones). The wealth
of longitudinal data acquired in this way would enable
us to detect promptly very subtle changes in brain
function caused by neurological diseases, even before
serious symptoms arise.
MEET THE INTERVIEWEE:
Dr. Javier Escudero is a reader in biomedical signal processing
at the Institute for Imaging, Data and Communications in the
School of Engineering of the University of Edinburgh, UK. His
research interests are in the development and application
of signal processing and machine learning algorithms for
physiological signals.
Credit: iStock/LightFieldStudios
11 BIOMARKERS IN FOCUS
How Digital Biomarkers Enable
Patient-Centric Clinical Trials
Blake Forman
From smartphones to wearables, digital devices
have become a key aspect of everyday life. These
technologies can collect an array of data about a person,
such as their fitness level and mood. Harnessing these
devices in clinical trials to capture digital biomarkers
has the potential to enable more adaptive, patientcentric
trials.
The increasing amount and variety of data collected
by digital devices, alongside advancements in the
miniaturization of electronics, have created new
possibilities for integrating digital biomarkers into
clinical trials. These measures have several advantages
over traditional clinical outcome assessments and can be
useful in trials where accurate and timely data collection
is crucial for assessing investigational treatments.
“Digital biomarkers can be integrated into clinical trials
in several ways: as exploratory endpoints to understand
physiological correlates of disease activity or treatment
response, as stratification tools to identify high-risk
participants or even as surrogate endpoints of treatment
response,” Dr. Robert Hirten, associate professor of
medicine, artificial intelligence and human health at
What are digital biomarkers?
Digital biomarkers are objective,
quantifiable indicators of health, disease or
treatment response collected and measured
by digital devices such as smartphones,
wearables and implants. Examples of digital
biomarkers include heart rate variability
from a smart watch and recorded speech
patterns to track mood.
Credit: iStock/Khanchit Khirisutchalual
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BIOMARKERS IN FOCUS 12
the Icahn School of Medicine at Mount Sinai, told
Technology Networks.
Digital biomarkers can be used in tandem with
traditional trial measures, such as self-reports or
clinical interviews. This enables the collection of
objective, continuous data reflecting participants'
real-world experiences, which complements standard
trial endpoints. “This can result in a more precise
assessment of how a treatment affects daily functioning
and behavior,” Dr. Nick Jacobson, associate professor
in biomedical data science, psychiatry and computer
science at the Geisel School of Medicine at Dartmouth,
told Technology Networks.
“It's possible that digital biomarkers could detect
treatment responses or subtle changes more quickly
or sensitively than conventional methods, potentially
leading to more efficient trial designs,” Jacobson
continued. “They also provide valuable information
on how a treatment impacts everyday life outside the
clinic setting.”
Digital biomarkers of mental wellbeing and
gut health
Many areas of medicine could benefit from the
implementation of digital biomarkers. In clinical trials for
neurological disorders, cognitive and motor functions
are traditionally assessed with specific tests, clinical
interviews or through self-reporting of symptoms.
Digital biomarkers can provide a non-invasive and
objective measurement that more accurately represents
how a patient is responding to a treatment.
Smartphones and wearables offer significant advantages
to the field of mental health. “They allow for continuous,
objective monitoring of behavior and physiology using
passive sensors like accelerometers and GPS right
in people's daily lives,” explained Jacobson. This data
stream allows for the development of digital biomarkers
that “can assist in predicting and detecting mental health
conditions such as anxiety and depression earlier than
might otherwise be possible.”
Beyond clinical trials, wearables and sensors that
collect digital biomarkers offer a range of benefits for
monitoring and treating mental health conditions.
“For monitoring, these tools provide a highly detailed,
real-time view of symptom fluctuations, offering insights
that are difficult to capture through infrequent clinic
visits or memory-based self-reports,” Jacobson said.
“When it comes to treatment, this continuous data
“It's possible that
digital biomarkers
could detect treatment
responses or subtle
changes more quickly
or sensitively than
conventional methods,
potentially leading
to more efficient trial
designs,” Jacobson
continued. “They
also provide valuable
information
on how a treatment
impacts everyday
life outside the
clinic setting.”
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BIOMARKERS IN FOCUS 13
stream supports the creation of personalized, just-intime
adaptive interventions. Such systems can identify
moments of increased need or risk and deliver targeted
support right when it could be most helpful.”
Jacobson and colleagues have developed a generative
AI therapy chatbot called Therabot. This is designed
to provide real-time support for the many people
who lack regular or immediate access to a mental
health professional.
“Digital tools, including smartphone applications
and AI-driven platforms like the Therabot system
developed in my lab, can deliver evidence-based
assessment and therapeutic interventions at scale. This
reaches individuals who might otherwise struggle to
access traditional care due to cost, location or stigma,”
stated Jacobson.
The use of wearables to collect digital biomarkers
has applications for a range of diseases beyond
mental health conditions. “Wearable technology
offers a potentially new approach to managing IBD
[inflammatory bowel disease] by enabling continuous,
non-invasive monitoring of patients in their daily lives,”
explained Hirten.
In a recent study, Hirten and colleagues evaluated
how several physiological metrics are associated with
IBD flares. They found that circadian patterns of heart
rate variability identify such inflammatory instances.
In addition, changes in these metrics can identify and
precede flares of IBD by up to seven weeks.
“Although further research is needed, our hope is
that this can give patients and their doctors a critical
window to intervene early,” said Hirten. “Beyond
flare prediction, wearables hold promise in being able
to monitor treatment response, identifying ongoing
symptoms and inflammation – all outside the traditional
confines of the clinic.”
Challenges in integrating digital biomarkers
in clinical trials
As outlined in the examples above, the potential of
digital biomarkers to advance many aspects of human
health is immense. However, there are still challenges
that need to be overcome for them to see more regular
use in clinical trials.
One of the primary concerns is around data privacy,
given the sensitive nature of the data collected. This
is in addition to other challenges that still need to be
evaluated, “Including ensuring data quality, validating
digital measures against gold standards and navigating
evolving regulatory frameworks,” said Hirten.
AI and machine learning have the potential to help
overcome some of these challenges by improving data
quality and integrity.
“AI and machine learning are central to extracting
meaningful insights from the high-volume data
generated by wearables. These tools can identify subtle
patterns and temporal trends that are not discernible
through traditional analysis,” Hirten explained.
By learning an individual’s unique physiological baseline
and deviations from it, AI can enhance the accuracy and
clinical relevance of data collected using wearable devices.
“AI also drives personalization; my research, supported
by the National Institute of Mental Health, indicates
that deep learning models tailored to an individual's
unique data streams often provide the most accurate
predictions of symptom changes, paving the way for
highly personalized mental healthcare,” stated Jacobson.
“AI can also help by integrating data from multiple
sources, like sensors and self-reports, to build a more
complete picture of an individual's mental health.”
Given the data security and regulatory challenges
that come with integrating digital biomarkers in
clinical trials, Hirten recommends that “A thoughtful,
methodologically rigorous approach is essential to
unlock their full potential.”
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BIOMARKERS IN FOCUS 14
Future outlooks for digital biomarkers in
clinical trials
Digital biomarkers offer substantial value in clinical
trials by providing objective, continuous and realtime
data on participants. “In the future, I believe
digital biomarkers will become integral to the design
and execution of clinical trials. They will enable more
adaptive, patient-centric trials—where real-world data
informs eligibility, dosing and endpoints in real time,”
said Hirten.
Continued advancements in AI and machine learning are
set to further enhance the accuracy of digital biomarkers.
Moreover, digital biomarkers could improve patient
engagement by integrating other digital technologies
such as remote monitoring and AI chatbots. “We’ll also
see digital biomarkers supporting broader inclusion by
potentially reducing the need for frequent site visits,
which is especially valuable for participants in remote or
underserved areas,” Hirten concluded.
“As regulatory standards evolve and validation
frameworks mature, digital biomarkers may transition
from exploratory tools to accepted clinical endpoints,
helping us bring more precise and timely therapies to
patients with chronic diseases.”
ABOUT THE INTERVIEWEES
Dr. Nicholas Jacobson is an associate professor of biomedical data
science, psychiatry and computer science at Dartmouth, where he
directs the AI and Mental Health: Innovation in Technology Guided
Healthcare (AIM HIGH) Lab in Dartmouth’s Center for Technology
and Behavioral Health. His research leverages technology –
particularly AI and data from smartphones and wearable devices
– to enhance the assessment and scalable treatment of anxiety,
depression and related conditions.
Dr. Robert Hirten is an associate professor of medicine, artificial
intelligence and human health at the Icahn School of Medicine at
Mount Sinai. Hirten’s research focuses on the use of connected
devices and digital technology for the study of health and disease.
Leveraging this technology, he leads wearable device studies
across patient populations and disease states. His work has
resulted in the development of novel machine learning algorithms
derived from wearable devices for the prediction of various health
and disease endpoints.
15 BIOMARKERS IN FOCUS
The Evolution of Biomarkers in
Modern Cancer Care
Isabel Ely, PhD
Cancer biomarkers are biological indicators found in
blood, body fluids or tissues that signal the presence
of abnormal processes or diseases. In oncology, these
markers offer more than just cancer identification –
they provide critical insights into disease progression,
recurrence risks and treatment outcomes. Tumor
markers can serve as prognostic indicators, forecasting
the disease’s course, whereas predictive biomarkers can
help guide treatment responses.
Classified by proteins like enzymes, hormones and
receptors, cancer biomarkers also emerge from genetic
changes – mutations, amplifications and translocations
– that help categorize cancer types and guide therapy.
For effective clinical use, cancer biomarkers must be
detectable through reliable, cost-efficient methods that
improve patient outcomes.
The use of biomarkers in cancer care has expanded
dramatically, offering new avenues for earlier diagnosis,
improved treatment selection and more accurate
prognostic predictions.
The evolution of cancer biomarkers
in precision oncology
In the era of precision oncology, biomarkers are
redefining how we detect, diagnose and treat cancer.
Unlike traditional approaches, which often rely on
population-level trends and non-specific clinical
signs, biomarker-guided strategies enable a more
individualized, predictive and dynamic model of
cancer care.
Credit: iStock/angelp
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BIOMARKERS IN FOCUS 16
“Biomarkers have fundamentally reshaped how we
understand cancer,” Professor Samra Turajlic, group
leader and consultant medical oncologist at The Francis
Crick Institute and The Royal Marsden Hospital,
told Technology Networks. “Historically, we treated
cancers by site and appearance; now, we can probe the
biological processes driving each tumor.”
Traditional diagnostic tools, such as imaging or
histopathological evaluation, often detect cancer only
after it has progressed to a detectable size or caused
symptoms. In contrast, biomarkers – especially those
detectable in blood or other biofluids – can signal
the presence of malignancy before clinical symptoms
appear. For example, a previous study used cell-free
DNA methylation patterns for multi-cancer early
detection, achieving a specificity of over 99% across
more than 50 cancer types, with promising sensitivity
even for stage I cancers.
“Biomarkers have allowed us to identify specific
mutations, immune profiles or metabolic shifts that give
us clues about how a cancer emerged, how it behaves
and how it might respond to treatment,” said Turajlic.
“Importantly, they’ve helped reveal that cancer isn’t
a static disease; it evolves, and our biomarkers must
evolve with it.”
One significant advantage of biomarkers is their ability
to guide targeted therapy. Traditional treatments such
as chemotherapy are often applied broadly, with varying
success and considerable toxicity. Biomarkers, however,
enable clinicians to match patients with therapies likely
to be most effective for their specific tumor profile.
The landmark use of epidermal growth factor receptor
mutation diagnosis in guiding treatments for non-small
cell lung cancer illustrates this: patients with these
mutations respond dramatically better to tyrosine
kinase inhibitors than to standard chemotherapy.
Similarly, the presence of PD-L1 expression or tumor
mutational burden (TMB) has become instrumental in
predicting response to immune checkpoint inhibitors.
In the KEYNOTE-158 study, pembrolizumab showed
durable responses in patients with high TMB across
various tumor types, leading to the US Food and Drug
Administration's (FDA) approval of the biomarker as a
companion diagnostic.
Biomarkers can be classified into diagnostic, predictive
and prognostic categories, each with distinct roles in
enhancing cancer management.
“Biomarkers have
allowed us to identify
specific mutations,
immune profiles or
metabolic shifts that
give us clues about
how a cancer emerged,
how it behaves and
how it might respond
to treatment,” said
Turajlic. “Importantly,
they’ve helped
reveal that cancer
isn’t a static disease;
it evolves, and our
biomarkers must
evolve with it.”
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BIOMARKERS IN FOCUS 17
Diagnostic
Diagnostic biomarkers are crucial for identifying cancer
in its early stages – when treatment is most effective.
These biomarkers typically identify molecular changes
associated with cancer cells, making it possible to detect
cancer before symptoms appear.
Circulating tumor DNA (ctDNA) was identified by Diaz
and colleagues as a promising diagnostic biomarker
for the early detection of colorectal cancer. Their
research demonstrated that ctDNA analysis could
detect cancer-related mutations in plasma samples,
offering a less invasive and highly sensitive method for
early diagnosis, potentially replacing traditional tissue
biopsies. This study laid the groundwork for ongoing
efforts to integrate ctDNA-based tests into routine
cancer screening.
Predictive
Predictive biomarkers help clinicians predict how
patients will respond to specific therapies, allowing for
more personalized treatment plans. These biomarkers
provide information on the likelihood that a patient will
respond to a particular drug or treatment regimen, thus
optimizing therapeutic outcomes.
A well-known example of a predictive biomarker is the
use of the HER2 gene amplification status in breast
cancer. A pivotal study by Slamon and colleagues
demonstrated that patients with HER2-positive
breast cancer (those with overexpression of the HER2
protein) were more likely to benefit from trastuzumab
(Herceptin™), a targeted therapy. This finding led to
the FDA's approval of trastuzumab for HER2-positive
breast cancer, revolutionizing treatment and improving
survival rates. Testing for HER2 status is now a routine
part of breast cancer diagnosis and treatment planning
Prognostic
Prognostic biomarkers provide insight into a patient’s
likely disease course, irrespective of treatment, helping
clinicians assess the aggressiveness of the cancer
and predict patient outcomes. These biomarkers are
essential for determining the best course of action,
particularly when choosing between treatment regimens
or deciding whether active surveillance is appropriate.
A notable example of prognostic biomarker use is the
Oncotype DX test for breast cancer – a gene expression
test that analyzes a panel of 21 genes to assess the
risk of recurrence in early-stage breast cancer. The
TAILORx trial demonstrated that patients with low
Oncotype DX scores could safely avoid chemotherapy,
sparing them from unnecessary side effects without
compromising their survival. The study significantly
influenced how breast cancer treatment is personalized,
demonstrating how prognostic biomarkers can improve
decision-making.
Identifying and validating reliable cancer biomarkers is
a complex and multi-faceted challenge that continues to
hinder advancements in personalized oncology.
“Cancer is profoundly heterogeneous, not just
between patients, but within a single patient’s tumor,”
Turajlic explained. “This means that a single biopsy
might not capture the full biological landscape.
That’s compounded by sample variability and assay
heterogeneity; different labs, platforms and protocols
can yield different results even when analyzing the same
biomarker in the same patient.”
Even more challenging is the ability to differentiate
between benign and malignant conditions using a single
marker or a set of biomarkers. Research has shown that
the genetic and molecular diversity between tumors
is a key obstacle in identifying biomarkers universally
applicable across different cancer subtypes.
“There’s a tendency to treat biomarkers as static
indicators, when, in fact, tumors evolve – especially
under the selective pressure of treatment. Without
dynamic, longitudinal measures, we risk missing the
biological shifts that are most clinically relevant.”
Even after a potential biomarker is identified, validating
its clinical utility is a lengthy and rigorous process. It
must demonstrate not only that it can accurately detect
or predict disease but also that it can improve patient
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BIOMARKERS IN FOCUS 18
outcomes. This requires large-scale clinical trials to
confirm the biomarker’s sensitivity, specificity and
reproducibility in real-world settings. Furthermore,
biomarkers must meet regulatory standards set by
bodies, such as the FDA, a process that can be slow and
resource-intensive.
Turajlic explained that this often leads to a slow and
uneven translation into clinical research, often due
to underestimating the complexity of the disease and
overestimating what a single biomarker can tell us.
“Most current technologies provide a static view,
usually from a single biopsy at one time point. But
cancer is not static. That’s a huge limitation.”
Despite the promising strides in cancer biomarker
research, several challenges must be addressed to
maximize their clinical impact. Future research must
focus on overcoming the complexities posed by
intra-tumoral heterogeneity, which complicates the
identification of universally applicable biomarkers.
Developing biomarkers that are consistently
present across various types of cancer and stages,
as well as distinguishing between malignant and
benign conditions, will be crucial for improving
diagnostic accuracy.
Turajlic and her team are looking to progress the
use of biomarkers in cancer research by conducting
the Multiomic Analysis of Immunotherapy Features
Evidencing Success and Toxicity (MANIFEST) project
– for which Turajlic is the project’s lead.
“The MANIFEST project is a national effort to build
a sustainable, National Health Service-embedded
platform for deep genotyping and phenotyping,
specifically focused on understanding what drives
patient response, adverse effects and resistance to
immunotherapy,” she explained.
As part of the MANIFEST project, Turajlic and the
team are collecting rich, longitudinal data from patients,
including multiomic profiles from tissue, blood and
stool, so they can identify biological signatures that
predict both efficacy and toxicity of immunotherapy.
“One of our central aims is to move away from single
biomarkers and instead build integrated models
that consider multiple biological layers and time
points. We’re trying to move towards composite,
multiomic biomarkers where we integrate genetic,
transcriptomic, proteomic and clinical data into a more
holistic signature that reflects both the tumor and
its environment. That’s what will ultimately enable
more tailored and effective treatment strategies,”
Turajlic detailed.
Moreover, advancements in technologies like liquid
biopsies and single-cell analysis hold great promise
in revolutionizing biomarker detection. Non-invasive
methods for continuous monitoring of tumor evolution,
such as ctDNA analysis and minimal residual disease
detection, will play a key role in early detection,
monitoring and personalized treatment strategies.
“We're now seeing progress with single-cell sequencing,
spatial transcriptomics and liquid biopsy, all of which
give us a more dynamic picture,” she said. “These
technologies can help us track clonal evolution, monitor
treatment response and identify emerging resistance.
“The challenge now is integrating these technologies
into routine care in a way that’s scalable, cost-effective
and clinically meaningful. That’s where collaboration
between researchers, clinicians and data scientists
becomes crucial,” Turajlic concluded.
ABOUT THE INTERVIEWEE
Professor Samra Turajlic is a group leader and consultant medical
oncologist at The Francis Crick Institute and The Royal Marsden
Hospital. She completed her undergraduate studies at Oxford
University and her clinical training at University College London
Medical School. She gained a PhD in 2013 from the Institute of
Cancer Research in the field of melanoma genetics and targeted
therapy resistance. Turajlic is the chief investigator of translational
studies into melanoma and kidney cancer (TRACERx), and her
research goal is to develop an evolutionary understanding of
cancer for patient benefit.
19 BIOMARKERS IN FOCUS
The Landscape of Potential
Biomarkers for ADHD
Katie Brighton
Attention deficit/hyperactivity disorder (ADHD) is a
developmental condition that is characterized by an
ongoing pattern of inattention, hyperactivity or both.
It is one of the most common disorders in children and
affects approximately five percent of children worldwide.
In 40-50% of cases, the disorder persists in adults.
The clinical presentation and symptom profile of
ADHD vary greatly from individual to individual, and
co-morbidities including autism spectrum disorder,
intellectual disability and learning disorders such as
dyslexia are common.
The current diagnostic process is based on behavioral
tests and interviews prescribed by the Diagnostic and
Statistical Manual of Mental Disorders, 5th Edition. This
form of diagnosis can prove challenging, particularly
in cases with predominantly inattentive presentation,
when co-morbidities are present or for the female sex.
“Currently, ADHD diagnosis relies exclusively on
clinical presentation and patient history, underscoring
the need for clinically relevant, reliable and objective
biomarkers,” Sheng-Yu Lee, Liang-Jen Wang and
Cheng-Fang Yen said in their recent work.
Biomarkers could form a more objective and
accurate means of diagnosing ADHD. This listicle
reviews potential biomarkers for ADHD, including
neuroendocrine markers, genetic markers and
metabolite markers.
Potential neuroendocrine
biomarkers
Yen and colleagues propose that the neuroendocrine
system, which is closely linked to age and sex, may
influence the development of neural circuitry and
Credit: iStock/Ivan Bajic
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BIOMARKERS IN FOCUS 20
therefore ADHD. The sex-based differences in the
neuroendocrine system may account for the higher
prevalence of ADHD in males.
Their research focused on the most common steroid
in the human body, dehydroepiandrosterone sulfate
(DHEA-S), which is produced by the adrenal cortex and
the brain. In their study, people with ADHD had lower
levels of DHEA-S compared to controls, and DHEA-S
levels were negatively correlated with impulsivity.
In boys with ADHD, the researchers found that
polymorphisms in the STS gene, which influences
androgen synthesis and metabolism and has previously
been associated with increased ADHD risk, were
linked to DHEA S levels. This indicates that STS gene
polymorphisms could contribute to the pathology of
ADHD and form an ADHD biomarker.
Potential genetic biomarkers
The first wave of genetic studies into ADHD focused on
genes involved in dopaminergic neurotransmission, in
keeping with the hypothesis that ADHD may be, in part,
caused by altered dopamine signaling.
The variable number of tandem repeats in the
3’-untranslated region of the dopamine transporter
gene, DAT1, has been identified as a potential biomarker
for ADHD, with the 10-repeat variant having been
associated with childhood ADHD, and the 9-repeat
variant more strongly linked to adulthood ADHD.
A seven-repeat allele of the dopamine D4 receptor gene,
DRD4, is also associated with ADHD in children, with
neuropsychological and neuroimaging studies linking
this variant with worsened attention and impulsivity.
Altered Wnt signaling, which orchestrates cell
proliferation and differentiation, has also been linked
to neurodevelopmental disorders including ADHD.
LRP5 and LRP6 code for essential Wnt signaling
activation receptors, and research has indicated that a
variant of LRP5 is associated with childhood ADHD in
girls, and a variant of the LRP6 gene is associated with
ADHD in boys.
More recently, a genome-wide association study
outlined that many genetic variants combine to increase
the risk of ADHD, finding variants across 12 different
loci that significantly differ between individuals with
ADHD and neurotypical controls.
Potential metabolite biomarkers
Metabolites are small molecules formed during
biochemical reactions, which encompass amino acids,
lipids, hormones and exogenous substances that are
metabolized by humans.
Altered levels of specific metabolites in blood have
previously been linked to neuropsychiatric conditions
including dementia and bipolar depression.
Shi and colleagues used Mendelian Randomization – a
technique used to infer which genes cause disease –
and genome-wide association study data to analyze the
genetic link between plasma metabolites and ADHD.
Their research identified 42 metabolites with a causal
effect on ADHD, 22 of which were positively associated
with ADHD risk. The metabolic pathways implicated in
ADHD risk included long-chain polyunsaturated acid
biosynthesis, and methionine, tyrosine, cysteine and
taurine metabolism.
A particular metabolite of interest was
3-methoxytyramine sulfate (MTS), a product of tyrosine
metabolism and a precursor to the neurotransmitter
dopamine. Shi and colleagues noted that higher
levels of MTS were associated with a reduced risk
of ADHD and that MTS could act as a biomarker of
neurotransmitter activity.
Another study by Hung and colleagues pinpointed 156
metabolites that differed between children with ADHD
and controls. Of these, children with ADHD had notably
increased cholic acid and homoveratric acid levels and
decreased levels of inosine and nicotinuric acid.
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BIOMARKERS IN FOCUS 21
The discovery of metabolites that differ between people
with ADHD and controls could provide insights into
ADHD pathophysiology and may lead to a metabolite
panel that can be used for diagnosis.
Potential neurological biomarkers
Magnetic resonance imaging (MRI) research has
illustrated that the brains of people with ADHD are
structurally different to neurotypical controls. In the
brains of people with ADHD, the volume of gray matter
is reduced and the maturation of cortical and subcortical
regions is delayed.
Electroencephalography has also been used to reveal
differences between specific brainwave patterns that
are associated with ADHD severity, indicating that
neuroimaging techniques have potential for detecting
ADHD biomarkers.
Functional MRI (fMRI) provides better spatial resolution
than MRI, offering greater insights into the brain regions
and networks that are linked to ADHD. Zamanzadeh
and colleagues used fMRI to identify potential diagnostic
biomarkers for ADHD, focused on audiovisual
integration (AVI) networks due to the association
between ADHD and sensory processing deficits.
They examined the brain regions with an established
role in AVI and assessed the organization and efficiency
of the AVI-related brain networks, finding significant
differences in connectivity patterns between controls
and people with ADHD.
Functional near-infrared spectroscopy (fNRI), a
non-invasive brain functional imaging technique, has
identified neurobiological features of ADHD that have
potential for use as a diagnostic biomarker.
Zhou and colleagues used the results from fNRI scans
to identify that children with ADHD exhibit abnormal
activation in the right inferior frontal gyrus and the
left precentral gyrus during a Go/No Go task. They
also found altered functional connectivity patterns in
children with ADHD during the task. Data from the
fNRI scans was also used to create machine learning
classifiers, which could successfully distinguish
between children with ADHD and the controls.
Challenges in applying biomarkers
in clinical practice
The World Federation for ADHD and the World
Federation of Societies of Biological Psychiatry have
identified criteria that candidate biomarkers must meet
before they can be used in the clinic.
For a biomarker to be clinically relevant, it should have
specificity and sensitivity of at least 80% and be easy to
use in the clinic – that is, non-invasive, reliable, simple
to use and cost effective. It should also be confirmed by
two independent studies that are published in peerreviewed
journals.
In accordance with these guidelines, there has yet to be
a clinically valid biomarker identified for ADHD, in part
due to the vast differences in how ADHD may present
in an individual.
In a recent review, Cortese and colleagues outlined how
“methodological limitations, including small sample size,
lack of standardization, confounding factors and poor
replicability” have slowed progress in the field of ADHD
biomarkers.
They propose that larger and more robust studies
supported by increased international collaboration
could improve diagnostic accuracy of biomarkers and
pave the way to their use in the clinic.
With the varied disciplines of research into potential
ADHD biomarkers, there could be the potential to
combine datasets to improve understanding of the
mechanisms behind ADHD and identify clinically
relevant biomarkers in future.
22 BIOMARKERS IN FOCUS
The Technique That Can
Distinguish Up-Market
Floral Honey
Leo Bear-McGuinness
All honey is made by bees, but that doesn’t mean it’s
all uniform. To produce the golden syrup, bees gather
pollen from countless different species of flower.
As such, most honey sold around the world can be
considered poly-floral.
Some up-market producers, however, claim their honey
is mono-floral – made from pollen predominantly
sourced from the same species of flower. Mānuka
honey, made from the pollen of the New Zealand
mānuka tree, is one of the more notable varieties
sold in this high-end market, along with honey
made from Scottish heather, buckwheat, clover and
blueberry plants.
But how can consumers know their expensive jar of honey
is actually pure? After all, the honey market has become
notorious in recent years for defrauding customers.
According to the European Commission, just under
half of the commercial honey sold on the continent is
fraudulent. In a report published in 2023, the governing
body found that out of 320 products sourced from 20
countries, 147 (46%) contained suspicious adulterants
such as syrup made from rice and wheat.
Is the high-end world of honey really above such fraud?
Fortunately, one research team has developed a test to
help determine just that.
Credit: iStock/Deniz Cengiz
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BIOMARKERS IN FOCUS 23
Floral honey testing
“The aim of my study was to develop a method based on
liquid chromatography [LC] coupled to HRMS [highresolution
mass spectrometry] for the classification of
honeys from different floral origin, including buckwheat,
clover and blueberry,” said Dr. Lei Tian, a researcher at
McGill University’s Department of Food Science and
Agricultural Chemistry.
Speaking at Technology Networks’ Advances in Food &
Beverage Analysis 2022, Tian began her presentation
by busting a few myths about mono-floral honey.
“Mono-floral honey is a type of honey, which has a
distinctive flavor or other attribute due to its being
predominantly from the nectar of a single plant species,”
she said. “But we can never control a bee, [make] it
focus on one flower or one type of flower. This is very
difficult. In fact, [it’s rare] to have 100% mono-floral
honey. According to the literature, if one pollen type is
representative of more than 45% of the total number of
pollen in the sample, it [can be] identified as a monofloral
honey.”
With that lower-than-expected threshold in mind, Tian
sourced 45 honey products, advertised as mono-floral,
from a market in Montreal to use as samples for her
testing method.
“I selected the mono-floral honey: blueberry buckwheat
and clover,” she told the Technology Networks audience.
“In total, we collected 45 honey samples, 15 for each
type, and we used 30 samples to build the classification
model, 10 for each type.”
Once happy with the honey, the next step was preparing
the samples for floral honey testing.
“For the method to analyze the honeys,” Tian continued,
“we use a dilution and injection method. It's very
simple. We take 0.2 grams of honey and we dilute
with acetonitrile and water mixture, [in a] one to one
ratio, and then we filter the solution through the 0.22
micrometer filter. And then, for the filtrate, we further
dilute it 10 times using water. And then the final solution
we inject directly into the LC-QTOF-MS [liquid
chromatography coupled to quadrupole time-of-flight
mass spectrometry].”
Finally, once the samples were tested by the “diluteand-
shoot” method, Tian and her colleagues validated
their results.
“For data treatment and interpretation for the honey
classification, we acquire the data under different LCMS
conditions,” she said, “because one of our objectives
in the present study was to find the best working
condition to study honey.”
“And then, for data processing, we have different steps
to select the feature list, which is used to build the
models for the honey botanical classification. For data
analysis, we build the classification model with different
samples selected. And then, for data interpretation, we
classify the honey and check the impact of the different
LC-MS conditions on the data quality we acquired.”
The bees’ tease
Honey is one of the most counterfeited foods on the
market. A substantial portion of these adulterated
products comes from China, according to the Honey
Authenticity Network. Given that country-of-origin
labeling is not required by most regulators for a
product blended from elements sourced from more
than one country, many shoppers will be unaware that
their honey is Chinese and potentially less pure than
advertised.
In her study, published in Analytica Chimica Acta in
2024, Tian reports that her “dilute-and-shoot” method
successfully distinguished all the buckwheat, clover and
blueberry honeys. Indeed, the total ion chromatograms
(TICs) recorded were so precise that the team observed
an additional signifier in the blueberry honey: a unique
TIC peak with a retention time of 2.88 minutes.
With its efficacy now proven, Tian says her “relatively
fast, simple method” is ready to be further improved by
other researchers and analysts within the food sector,
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BIOMARKERS IN FOCUS 24
for the future development of “advanced predictive
models for honey botanical origin.”
Before long, the method could be central to any new
floral honey testing required by regulators. Until then,
consumers of blueberry honey will just have to have a
little faith in their brand of choice.
ABOUT THE INTERVIEWEE:
Dr. Lei Tian obtained a PhD degree in food science from McGill
University in 2020. She then worked as a postdoctoral fellow
at the University of Amsterdam, Netherlands, on microplastics
analysis. Currently, she is leading a project in the laboratory of
Prof. Stéphane Bayen at McGill University, on the development and
optimization of a standardized non-targeted analysis approach to
track various quality attributes of food simultaneously.
Credit: iStock/Boogich
25 BIOMARKERS IN FOCUS
What Blood Biomarkers
Can – and Can’t – Tell Us
About Alzheimer’s
Rhianna-lily Smith
Efforts to diagnose Alzheimer’s disease earlier and more
easily are picking up pace, especially with the rise of
blood-based biomarkers.
These tests measure proteins such as pTau217 and
pTau181 in the blood, and are being explored as simpler,
less invasive alternatives to traditional diagnostic
methods. These markers mirror the same pathological
features found in brain tissue or cerebrospinal fluid
(CSF). Researchers hope they could help detect
signs of disease many years before symptoms begin,
potentially at a stage where therapeutic intervention
may slow progression.
Historically, Alzheimer’s diagnosis has relied on a
combination of clinical assessments and more invasive
tests. These include neuroimaging methods such as PET
scans to detect amyloid plaques and lumbar puncture
procedures to collect CSF, where beta-amyloid and tau
levels can be measured. These markers have been used
for years to support diagnosis, particularly in research
settings and memory clinics.
“Protein aggregates of beta-amyloid and of the
tau protein in the brain are the key pathological
hallmarks that define Alzheimer’s disease,” Dr.
Patrick Oeckl, a neuroscientist at the German Center
for Neurodegenerative Diseases, told Technology
Networks. Oeckl leads a research group focused on
translational biomarker development using advanced
mass spectrometry techniques, and has over 15 years of
experience in the field.
Credit: iStock/angelp
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BIOMARKERS IN FOCUS 26
According to Oeckl, biomarker changes can be
detected long before symptoms begin. “Exact numbers
are difficult to predict,” he said, “but the current
data indicate that changes might be measured as
early as 20 years before the clinical diagnosis of
Alzheimer’s disease.”
While blood tests may be easier to use, the fluid they
rely on brings a different set of challenges.
This article explores the scientific potential, limitations
and future of blood-based biomarkers for Alzheimer’s,
and why fluid context still matters.
The promise of blood-based
Alzheimer’s biomarkers
Blood-based biomarkers for Alzheimer’s typically
involve measuring abnormal forms of tau or betaamyloid
proteins in the bloodstream.
Over the past decade, advances in assay sensitivity,
particularly for forms such as pTau217 and pTau181,
have made it possible to detect these proteins at very
low concentrations in plasma.
This has raised hopes for routine, non-invasive
screening tools that could complement or even replace
more invasive procedures.
“These biomarkers are very promising and studies
indicate that their performance can be identical to the
measurement in cerebrospinal fluid,” Oeckl said.
Another blood-based biomarker under investigation
is beta-synuclein, a protein found at synapses that is
released into the bloodstream when these connections
begin to deteriorate.
A 2025 study led by Oeckl found that blood levels
of beta-synuclein began to rise ~11 years before the
expected onset of dementia symptoms in individuals
with a genetic predisposition to Alzheimer’s. The
research followed participants in the Dominantly
Inherited Alzheimer’s Network (DIAN), combining
biomarker data with cognitive tests and brain scans.
While the study focused on familial Alzheimer’s disease,
Oeckl noted that similar patterns may apply to sporadic
cases. If confirmed, beta-synuclein could be used not
just for early diagnosis, but also to monitor treatment
effects in trials targeting neurodegeneration.
“I am excited to see if synaptic biomarkers such as betasynuclein
can be used to monitor treatment effects of
novel anti-amyloid and other drugs,” said Oeckl.
Fluid-specific performance and
diagnostic risk
Not all biomarkers perform equally well across different
biofluids. CSF, which is in direct contact with the brain
and spinal cord, tends to provide a more specific picture
of central nervous system pathology. Blood, however,
circulates throughout the entire body and contains
proteins from multiple organs and tissues, which can
interfere with interpretation.
“Some biomarkers show equally good performance
in CSF and blood,” Oeckl said, “whereas for others,
especially those with expression also in non-brain
tissue, measurement in CSF is better.”
One example is tau, a key Alzheimer’s-related
protein. Research has shown that tau proteins,
including pTau217 and pTau181, can also be released
from muscle tissue in certain diseases. In a recent
study, blood levels of these proteins were elevated
not only in Alzheimer’s disease patients but also in
individuals with amyotrophic lateral sclerosis (ALS), a
neurodegenerative muscle disease.
“It is not yet completely clear how other diseases
of muscle tissue affect blood levels of pTau217 and
pTau181,” Oeckl noted.
Further investigation using muscle biopsies revealed
the presence of these phosphorylated tau proteins in
muscle tissue, with ALS samples showing increased
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BIOMARKERS IN FOCUS 27
pTau reactivity in atrophic muscle fibers. These
findings suggest that elevated blood pTau levels might
reflect pathology outside the brain, such as muscle
degeneration, underscoring the importance of careful
interpretation of blood biomarker results.
A blood test therefore might show elevated tau levels
that are unrelated to Alzheimer’s pathology, pointing to
the disease when the signal is coming from somewhere
else entirely.
This is a key reason why CSF often gives a more
accurate picture; it reflects what’s happening in the
brain, without interference from the rest of the body.
The future of blood-based
biomarkers
Despite these limitations, blood biomarkers are
advancing quickly, and researchers continue to explore
their role in diagnostic workflows.
“I’m most excited about how and if blood biomarkers
such as pTau217 will be integrated in clinical routine,”
said Oeckl. “Especially in primary care and for
preclinical diagnosis.”
One proposed approach is to use these biomarkers in a
tiered testing model. Blood tests could be used for broad
initial screening, followed by more specific confirmation
through CSF analysis or neuroimaging when needed.
This could expand access to early detection without
relying solely on more invasive or costly methods.
The growing promise of blood-based biomarkers is now
also beginning to translate into real-world clinical tools.
In May 2025, the US Food and Drug Administration
(FDA) cleared the first blood test to aid in the diagnosis
of Alzheimer’s disease: the Lumipulse G pTau217/β-
Amyloid 1-42 Plasma Ratio. Designed for use in adults
aged 55 and older with symptoms of cognitive decline,
the test measures levels of pTau217 and β-amyloid 1-42
in plasma to infer the presence of amyloid plaques in
the brain.
While not a stand-alone diagnostic tool, this FDAcleared
test provides a less invasive and potentially
more accessible alternative to PET imaging or
lumbar punctures – representing an important step
toward broader clinical implementation of bloodbased
biomarkers.
ABOUT THE INTERVIEWEE:
Dr. Patrick Oeckl is a neuroscientist and head of the research
group for Translational Mass Spectrometry and Biomarker
Research at the German Center for Neurodegenerative Diseases
Ulm (DZNE) and Ulm University Hospital, Department of
Neurology, Germany. His interest is to uncover pathophysiological
mechanisms of neurodegenerative diseases and the discovery,
validation and implementation of biomarkers in CSF and blood to
improve diagnosis, personalized medicine and drug development.
He has more than 15 years of experience in biomarker discovery
and validation in academia and industry using mass spectrometry
and immunoassays with a high expertise in the challenging
measurement of low abundant proteins by mass spectrometry in
biofluids such as synucleins or neurofilaments. He has published
more than 100 peer-reviewed articles in scientific journals.
BIOMARKERS IN FOCUS 28
TECHNOLOGYNETWORKS.COM
CONTRIBUTORS
Alexander Beadle
Alexander is a Science Writer and Editor for Technology
Networks. He writes news and features for the Applied
Sciences section, leading the site's coverage of topics
relating to materials science and engineering. Before
joining Technology Networks in 2023, Alexander worked
as a freelance science writer, reporting on a broad
range of topics including cannabis science and policy,
psychedelic drug research and environmental science. He
holds a masters degree in Materials Chemistry from the
University of St Andrews, Scotland.
Blake Forman
Blake pens and edits breaking news, articles and
features on a broad range of scientific topics with a
focus on drug discovery and biopharma. Blake earned
an honors degree in chemistry from the University of
Surrey, which involved a placement year at the Medicines
and Healthcare products Regulatory Agency (MHRA)
laboratory, where he developed new pharmaceutical
testing methods. Blake also holds an MSc in chemistry
from the University of Southampton. His research project
focused on the synthesis of novel fluorescent dyes often
used as chemical/bio-sensors and as photosensitizers
in photodynamic therapy. Blake held several editorialbased
roles before joining Technology Networks as Senior
Science Writer in 2024.
Isabel Ely, PhD
Isabel is a Science Writer and Editor at Technology
Networks. She holds a BSc in exercise and sport science
from the University of Exeter, a MRes in medicine and
health and a PhD in medicine from the University of
Nottingham. Her doctoral research explored the role of
dietary protein and exercise in optimizing muscle health
as we age.
Katie Brighton
Katie joined Technology Networks in January 2022
after completing a bachelor’s degree in biochemistry
and a master’s by research degree in molecular and
cellular biology, both at the University of Leeds. They
loved the breadth of scientific content covered in their
undergraduate studies and wanted to share their passion
for research through science communication. As a
scientific copywriter, Katie assembles newsletters, writes
promotional webinar copy, supports the publication’s inhouse
writers and produces scientific content.
Leo Bear-McGuinness
Leo is a Science Writer at Technology Networks where he
focuses on environmental and food research. He holds a
bachelor's degree in biology from Newcastle University
and a master's degree in science communication from the
University of Edinburgh.
Molly Coddington
Molly is a Senior Writer and Newsroom Team Lead at
Technology Networks. Molly reports on various scientific
topics, covering the latest breaking news and writing
long-form pieces. Before joining Technology Networks in
2019, Molly worked as a clinical research associate in the
NHS and as a freelance science writer. She has a firstclass
honors degree in neuroscience from the University
of Leeds and received a Partnership Award for her efforts
in science communication.
Rhianna-lily Smith
Rhianna-lily graduated from the University of East
Anglia with a BSc in biomedicine and completed her MSc
by Research in microbiology at the Quadram Institute
Bioscience in 2023. Her research primarily focused on the
gut microbiome in pregnant women throughout gestation.
During her MSc, she developed a passion for science
communication and later joined Technology Networks as
an Editorial Assistant.
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