Progressive neurodegenerative diseases are often difficult to diagnose, taking months and sometimes even years to confirm a correct diagnosis, all while the disease continues to advance. Key to prevention and early treatment of neurodegenerative disease is having an accurate test that can predict risk for patients at the earliest stages. Even better is having a test that can predict risk for those who have yet to show any symptoms at all.

Rapid diagnosis can dramatically improve patient outcomes while saving time and expense as well as sparing the emotional angst of simply not knowing.

Our research has led us to the discovery of diagnostic tests based on blood biomarkers for both ALS and Alzheimer's Disease.

Exosomes contain biomarkers that can differentiate between people who have ALS and those who do not.

New Diagnostic Tests

Currently, an ALS diagnosis is based on clinical features with the elimination of alternative diagnoses. Our research has led us to the discovery of a new way to look for this disease. With patient samples from our clinical trials and from the Centers for Disease Control, we have repeatedly validated a microRNA fingerprint for ALS. Based on a single small blood sample, we can rapidly identify an individual at risk of ALS, which will help improve patient outcomes by allowing therapy to be started more quickly.

Based on our discovery of a molecular fingerprint that can predict neuronal death much earlier in the process, our research has also led us to the discovery of a unique metabolite--an intermediate or end product of metabolism--for Alzheimer's that can identify the disease at the earliest possible stage. This biomarker test can supplement clinical diagnosis for early detection of this disease, and potentially could identify at-risk individuals prior to symptom onset.

Dr Rachael Dunlop processes data from the ALS Biomarker project.

Our hope is that both of these biomarker diagnostic tests will be available for medical professional use in the coming years.

See our Biomarker research papers here.