Dr. Kruer’s application cites evidence that up to 30% of CP cases are related to genetics so this study has the potential to significantly increase our understanding of those genetic factors. This knowledge can then be used to better predict the evolution of an individual’s symptoms over time and assess a family’s risk of having additional children with CP. “We are thrilled to have the opportunity to partner with other CPRN investigators and the support of the NIH as we conduct these important studies,” says Kruer. “In time, genomic discoveries in CP will allow us to match currently available treatment tools to each patient better than ever before. We also believe that genomic findings may provide a window into how neurodevelopment goes awry in CP, facilitating the development of new treatments that target the underlying cause rather than treating symptoms.”
CPRN clinical registry sites will refer patients with unknown causes of CP to Dr. Kruer in Phoenix. Those patients will be enrolled in the study and receive a genetic sampling kit for their saliva. Dr. Kruer’s lab will perform the genomic analysis which will be connected with the phenotypic (observable human characteristics) analysis from the CPRN clinical registry to enable the study findings. This study will happen over five years.
The potential for future studies combining genomic analysis with the CPRN clinical registry is significant. NIH’s Precision Medicine initiative, which “aims to understand how a person’s genetics, environment, and lifestyle can help determine the best approach to prevent or treat disease,” is spurring the use of genetics to personalize treatments for what would achieve the best outcome for individuals. Dr. Kruer is already planning follow-on studies that will leverage this initial research into Precision Medicine types of studies for CP. If you or someone you know has an unknown cause of CP, it could be due to a genetic cause. Sign up for CPRN for alerts about the study to learn more.