A Network of Collaboration: Linking Patients and Researchers

Today, the HD Biobank holds nearly 1500 individual brain and peripheral tissue samples from over 200 HD patients and approximately 60 healthy ‘control’ subjects, including both fresh frozen and formalin fixed tissues.  While the number and types of tissues vary across donors, more than 20 different brain structures have been isolated and collected, ranging from cortex to basal ganglia to cerebellum. The assortment of peripheral tissues includes spinal cord, heart, liver, spleen and testes.  In addition, the biobank has also collected fibroblast and lymphoblast cell lines, sperm samples and cerebrospinal fluid from many patients.

The DNA portion of the HD Biobank consists of a collection of more than 5500 DNA samples from 1000 unrelated families and 750 single unrelated individuals.  The collection includes DNA samples from over 2500 individuals confirmed to carry the HD mutation and approximately 1700 family members without the HD mutation.  The ethnic breakdown of the collection reflects the composition of the Canadian HD population, being primarily (88%) of European origin.  The remaining non-European samples are a diverse mix of Indigenous North American, East Asian, South Asian, Central and South American, African, and Middle Eastern ancestry.

The HD Biobank database integrates clinical data (age of onset, disease characteristics and progression), demographic data (sex, age, ancestry), genetic data (CAG repeat length, haplotypes, polymorphisms), and pedigree information (recorded to document relationships and inheritance patterns) on a secure platform that protects the privacy and rights of all donors.