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Anatomical Phenomics

Research team

We study the link between brain structure and inter-individual variability in health and disease.

The causes of variability in brain function and disease between individuals are complex, with contributions from genetic, metabolic and environmental factors. We specialise in the relationship between brain anatomy and inter-individual variability. We develop quantitative MRI (qMRI) based techniques to study how histological differences in brain microstructure relate to the genetic and phenotypic variability observed in health and disease.

Improving our understanding of these relationships will allow:

  • Earlier, more accurate diagnoses in conditions such as Parkinson’s disease (PD)
  • Better predictions of future disease progression at an individual subject level
  • Insight into the biological foundations of structural-functional variation

We have developed a number of novel techniques using quantitative MRI and probabilistic tractography to map brain structures that are not normally visible on MRI, including brainstem and thalamic nuclei, cortical lamina and white matter architecture. These provide more accurate measurements of structural brain changes that can be used to help understand the differences observed between individuals, and have applications in functional neurosurgical procedures such as deep brain stimulation.

Our vision is to develop clinical tools to identify and accurately diagnose neurodegenerative conditions before the obvious signs of disease emerge, help provide more personalised treatments tailored to individual subjects, and create a framework where disease-modifying therapies can be started before brain tissue has been irreversibly lost.

 

Ongoing work

We have (i) developed techniques to map thalamic nuclei at an individual subject level using probabilistic tractography; (ii) improved pre-processing pipelines for cerebral small vessel disease, (iii) used the patterns of damage to predict future vascular dementia, (iv) demonstrated a spectrum of disease phenotypes based on anatomy and (v) improved the segmentation of brainstem structures in vivo.

Quantitative MRI for Anatomical Phenotyping in Parkinson’s disease (qMAP-PD)

Parkinson’s disease (PD) is the second most common neurodegenerative condition. It is diagnosed based on clinical signs, that become detectable once 50-60% of the substantia nigra dopamine producing neurons have been lost. However, PD is thought to begin between 10 and 20 years before this, with some of the earliest changes found within the brainstem and enteric plexus. When the condition manifests, both the presentation and progression is highly variable between individuals. While groups at high risk of developing PD can be identified, it is not possible to accurately predict who will later develop PD.

qMAP-PD is a longitudinal study to examine phenotypic variability in the presentation and progression of early and pre-clinical PD. It is using the latest novel anatomical qMRI imaging methods, combined with detailed clinical phenotyping, high-throughput genotyping and other blood-based biomarkers, and will also leverage other large imaging-genetic datasets from the UK Biobank and International Parkinson’s Disease Genomics Consortium.

 

To find out more, please visit the qMAP-PD website.

 


Principal Investigator

Dr Christian Lambert

Team

Francisca Ferreira

PhD student (i4health)

Nicola Smith

Research Assistant

Gabrielle Sheehan

Research Assistant

Research areas