ENIGMA-Cerebral Small Vessel Disease
Background:
Cerebral small vessel disease (cSVD) refers to a range of conditions that occur due to pathologies of the small blood vessels of the brain that supply blood to the white matter and the deep grey matter structures. cSVD is very common and for the most part is clinically silent but may also present with stroke, cognitive decline or dementia, mood disorders and physical dysfunction. On imaging studies using CT or MRI, cSVD presents with pathological-anatomical lesions including white matter hyperintensities (WMH), lacunar strokes, cerebral microhaemorrhages, and enlarged perivascular spaces. In recent years diffusion imaging markers of vascular disease have been also increasingly utilised, including fractional anisotropy, mean diffusivity, peak-width of the skeletonised mean diffusivity (PSMD) and difference in diffusion functions (DDF).
Purpose:
The ENIGMA-cSVD working group aims to explore these imaging constructs and the genetic, epigenetic and transcriptomic architecture of cerebral small vessel disease.
Working Group Goals:
- Conduct imaging meta-analyses of these phenotypes to understand their co-occurrence and help define clinical imaging constructs.
- Conduct larger genome-wide association studies (GWAS) to understand the shared and distinct genetic architecture of these phenotypes.
- Conduct epigenome-wide association studies to identify differentially methylated sites and regions associated with cSVD phenotypes.
- Perform transcriptomic analyses to identify differentially expressed genes associated with cSVD phenotype.
- Conduct druggable-GWAS analyses to assess possible druggable targets to treat cSVD.
- Examine the progression of cerebral blood flow, diffusion MRI related measures (free water compartment, PSMD, and DDF), and small vessel disease lesions and the moderating effects of amyloid and tau load.
ENIGMA-cSVD IS LOOKING FOR NEW MEMBERS!
This ENIGMA-cSVD working group is actively looking for members with the only requirements being that you have MRI imaging data and that you collect basic demographic and medical data on your patients. We are particularly interested in datasets that have genetic data on their participants. For more information you can contact the working group coordinator Dr Matt Lennon (matthew.lennon@unsw.edu.au).
ENIGMA-cSVD Working Group Memorandum of Understanding (MOU): ENIGMA-cSVD Working Group members are asked to sign a short MoU agreement that has been standardized across ENIGMA projects and provides basic framework to protect data privacy, facilitate data sharing, encourage academic productivity, ensure appropriate authorship and publication credit, and implements a system to track and archive data, analyses and publications related to the ENIGMA-cSVD Working Group.
