Researchers are looking for parents and children with CP!
While many children with Cerebral Palsy have an identifiable cause, the cause for a large segment of patients remains unknown.
Dr. Michael Kruer, MD, of Sanford Children’s Hospital, in conjunction with the Cerebral Palsy Genetic Research Collaborative has begun an intensive study to identify the common biology behind the genetic mutations that cause CP.
You or your child can participate in the Cerebral Palsy Genetic Research Collaborative by contacting study coordinator Jessica Howard at, [email protected]. Both adults and children with CP are able to be a part of this study. Participation is easy, as sample collection uses a cheek swab to collect DNA and can be completed from the privacy of your home.
CNS Foundation recently spoke with Dr. Kruer and the following come directly from him and his colleagues.
Genetic forms of Cerebral Palsy?!
Why does CP occur?
The last several decades have brought considerable advances in obstetric and neonatal care. We are caring for unborn babies and premature infants better than ever before. However, despite these important advances in medical care, up to 1 in 250 children are born with some form of cerebral palsy (CP).
Many children are thought to develop CP as a result of unavoidable complications during delivery or related to extreme prematurity. For those without this history, an MRI scan can provide valuable clues that help explain a child’s CP (showing a stroke that occurred during development or a region of the brain that didn’t form correctly, for example).
Although many children have a readily identifiable cause for their CP, for many children the cause of their CP is something of a mystery.
Our research is focused on understanding what causes CP in these kids. Our findings, and those of other researchers, are beginning to indicate that for a substantial proportion of children with CP, their condition is genetic. How substantially single gene mutations contribute to CP is controversial and the subject of ongoing research.
But CP doesn’t run in my family… could my child’s condition still be genetic?
For many genetic diseases, such as cystic fibrosis, there is no prior history in the family. Instead, both parents are carriers of the condition, and each of their children has a 25% chance of inheriting the disease. Rarely, several family members may in fact have CP. Studies of families with multiple children with CP has formed the basis of what we know about CP genetics today.
So what is known at this point in time?
Previous research identified several genes that may lead to CP when mutations develop and discussed here. More recently, our research group has identified a new gene that leads to CP when mutated (Kruer, et al. unpublished) and we are hotly pursuing several others. We’re working with colleagues around the world (Cerebral Palsy Genetic Research Collaborative) to get at these problems. Our work relies on alliances with patients and families to drive it forward.
A common biology?
Recent findings indicate that children with genetic forms of CP don’t have mutations in just one “CP gene.” Instead, affected children may have mutations in completely distinct genes. Interestingly, these genes may map back to a common cellular pathway that affects connections between neurons. This suggests that there may be common elements in the biology of CP, and indicates that treatments targeting these connections may be possible in the future.
Limits of current knowledge
Despite recent advances in genetic technology and capabilities, there is much still to be learned about the role of genetic factors in a given child’s CP. Clinical testing is unavailable at this point in time. Understanding the implications of these findings is still in its infancy.
How can I help researchers solve this puzzle?
Parents and advocacy groups are urged to support research on the genetic basis of CP. CP research has historically been underfunded when compared to other childhood diseases.
You or your child can participate in the Cerebral Palsy Genetic Research Collaborative by contacting study coordinator Jessica Howard at [email protected] Both adults and children with CP are able to be a part of this study. Participation is easy, as sample collection uses a cheek swab to collect DNA and can be completed from the privacy of your home.
We invite you to be part of our search for better diagnostics and better treatments
Michael Kruer, MD
Pediatric Neurologist and Principal Investigator, CP Genetic Research Collaborative
Sanford Children’s Hospital
Cerebral Palsy Genetic Research Collaborative consists of hospitals and universities, including:
Shriners Hospitals for Children
Cincinnati Children’s Hospital Medical Center
Cerebral Palsy Research Registry
Oregon Health and Science University
The Royal Children’s Hospital Melbourne