Skip to navigation Skip to main content Skip to footer

Approved Research

Progression and risk in Neurodegenerative Disorders

Principal Investigator: Dr Maryam Shoai
Approved Research ID: 54107
Approval date: October 27th 2022

Lay summary

In this project we would like to focus on disorders like Alzheimer's Disease, Parkinson's Disease, Motor Neuron Disease, and other neurodegenerative disorders.

Facts about neurodegenerative disorders:

1)           Most have no known cure.

2)           We find out we are at risk of these only when the symptoms start. Much later than the disease process started.

3)           In some cases, like Alzheimer's disease the symptoms don't manifest until close to 20% of the brain volume has been lost.

4)           The only promising therapies we have so far, work best when they catch the disease early, i.e. before the symptoms start becoming too noticeable.

We believe that some of the genetic variations that have been discovered so far for each disease is not specific to the disease itself, but in fact a proxy for neurodegeneration in general. We suspect this has happened because the statistical models set up for their discovery did not take this possibility in to account.

If there are genetic differences between two disorders, then with enough samples for each disorder, the "right" statistical model, and knowledge of the disorders, we will be able to identify the true genetic variables that drive risk and progression rate.

Our project will aim to identify these disease specific variants. These disease specific variants will then be able to help us identify who is more likely to have any of the diseases we have studied and in the event of them getting the disease how fast are they likely to progress?

Knowing the answer to these will enable health care providers to work closely with those affected and their families and come up with a more efficient care plan for the patient. Importantly, answering the questions above will enable the clinician to start the treatment at an appropriate time for the disorder, before the brain has already degenerated.

Hence, we enable the patient to feel more in control of the disorder and in cases where life style choices (for example exercise) can be useful delaying techniques, delay the disorder by several years.