There is mounting evidence that Cerebral Palsy (CP) is the result of both genetic and environmental factors. Investigating the roles genetics play is crucial to our understanding of the complexity of CP, and may lead to improved interventions for preventing CP, and better diagnostics and treatments for children and their families.
CP-NET’s Genomic research consists of three projects:
- Completing CP-NET Hemiplegic CP Pedigree case study project;
- Creating a DNA database for all sub-types of CP; and
- Collaborative hemiplegic CP Genomics Project.
CP-NET Hemiplegic Pedigree Case Study
This project aimed to create a database of the genetic material (called DNA) present in 350 youth with hemiplegic CP. The DNA was taken by collecting saliva samples and used to create a hemiplegic CP-NET DNA database. This database allows researchers to look at genetic mutations that are involved in the development, progression and symptoms of CP. Some families, with another family member with CP, a family history of stroke or heart attack before the age of 55 years, or parents, who are biologically related, will have a more detailed analysis of multiple family members. This is done to see if there is a way to determine the risk of a family having a child with hemiplegic CP. If we are able to identify which families are genetically at risk, we can provide them with genetic counseling, closer clinical monitoring and tailor clinical practice to reduce the risk of CP.
CP-NET DNA Database for all sub-types of CP
This project involved the creation of a new population-based database. Saliva was collected from youth with CP, and their parents. If additional genetic risk factors were identified (such as family history of cardiovascular disease or neurodevelopmental disorders) then saliva and clinical data of siblings was also collected. This data will help test future hypotheses about genetic factors and the gene-environment interactions that are associated with CP.
Collaborative Hemiplegic CP Genomics Project
This project will result in the largest collection of subjects with hemiplegic CP in the world. In collaboration with the Children’s Hospital of Philadelphia and the Canadian CP Registry of Canada’s NeuroDevNet, CP-NET will compare over 200 genomes of individuals with hemiplegic CP to their parents and typically developing peers. This will allow scientists to determine rare and common genes that can lead to hemiplegic CP.