We detect DNA from dying neurons in the blood — a biomarker of neurodegeneration.

Monitor cell-specific biomarkers of neurodegeneration with our screening tools.

The Current Gap

Early diagnosis and treatment hold immense promise in mitigating the impact of neurodegenerative diseases (NGDs), potentially altering the course of these conditions. At present, diagnostic methods for NGDs rely on a multifaceted approach, incorporating clinical assessments, neuroimaging techniques, and analysis of cerebrospinal fluid (CSF).

However, despite their utility, these methods are beset by limitations, underscoring the pressing need for more effective diagnostic tools and therapeutic interventions.

Informed Science

Misdiagnoses and diagnostic delays are common in neurodegenerative conditions, especially early in disease progression.

75% of individuals with dementia, including Alzheimer’s disease, are undiagnosed.1

Average ALS diagnostic delays range from 9-24 months.2 

At clinical onset of Parkinson’s disease, 40-60% of dopamine neurons in the substantia nigra have already been lost.3

Blood Test Advantages

Current diagnostics for NGDs involve a combination of clinical evaluations, neuroimaging, and cerebrospinal fluid (CSF) analysis. But these approaches are limited by cost, accessibility, and invasivity.

Cell-free DNA (cfDNA) from neurons in the brain is highly fragmented and occurs at low concentrations in the blood. Standard [PCR] techniques are not sensitive enough to detect cfDNA for disease detection, especially early in disease stages.

Less Invasive

Unlike CSF analysis, which requires a lumbar puncture, our blood test only requires a simple blood draw.

Accessible

Our blood test can be ordered by qualified physicians across the country, and is not limited by geographic proximity to imaging centers or specialists. This makes it easier for patients in various locations to access the test.

Cost Effective

Our blood-tests were designed and optimized for high-throughput processing to provide an affordable option for widespread screening.

Thorough

Built on proprietary technology that targets specific regions of DNA, our blood test offers high sensitivity, ensuring reliable detection of DNA at low concentrations.

Our Approach

1. Identify regions of DNA with neuron type-specific methylation patterns.

Analyze blood plasma, publicly available methylation arrays, and whole genome methylation sequencing data from purified neurons of interest to identify DNA regions with neuron type-specific methylation signatures.

2. Ensure the neurons of interest can be identified by analyzing methylation signatures at the target regions.

Extract DNA from purified neurons of interest and blood plasma. Confirm that sequencing and analyzing methylation marks at the target DNA regions correctly identify purified neurons compared to plasma.

3. Determine whether elevated levels of neuron-derived DNA in the blood is associated with disease.

Acquire blood samples from patients with Alzheimer’s, Parkinson’s, and ALS and extract DNA. Sequence and analyze the methylation data to determine whether elevated DNA from neurons correlates with neurodegenerative disease.

4. Optimize the protocol for performance.

Enhance the protocol to improve cost-effectiveness and scalability, leveraging NGS 3.0 and proprietary technologies.

5. Perform additional research to improve the predictive power of the test

Conduct further studies to control for comorbidities and other potential causes of neuron cell death that could lead to false positive signals of elevated levels of DNA from neurons in the blood.

For more details about our clinical validation data:

References & Citations

1: Gauthier, S., Rosa-Neto, P., Morais, J. A., & Webster, C. (2021). World Alzheimer Report 2021: Journey through the diagnosis of dementia. Alzheimer’s Disease International, 2022, 30.

2: Segura, T., Medrano, I. H., Collazo, S., Maté, C., Sguera, C., Del Rio-Bermudez, C., ... & Taberna, M. (2023). Symptoms timeline and outcomes in amyotrophic lateral sclerosis using artificial intelligence. Scientific Reports, 13(1), 702.

3: Giguère, N., Burke Nanni, S., & Trudeau, L. E. (2018). On cell loss and selective vulnerability of neuronal populations in Parkinson's disease. Frontiers in neurology, 9, 383041.