Today is World Cerebral Palsy Day, a day that’s all about ideas that will change the world for people with cerebral palsy. Last year’s winners include a designer walker and a spill-proof cup. I have an idea—but the thing is, it already exists. The concept: More research for cerebral palsy. Some 17 million people across the world have cerebral palsy, and an estimated 350 million are closely connected to a child with CP. It is the most common childhood physical disability—and yet, there’s been a severe lack of federal funding for research into treatment and prevention.
One woman leading the charge: Cynthia Frisina, executive director and founder of Reaching for the Stars and mom to a daughter with CP. Her non-profit recently co-funded research at Kennedy Krieger and Johns Hopkins that showed the brains of kids with CP have more plasticity—and potential for recovery—than previously believed. In March, Cynthia testified before Congress to push for more funding for CP research. Now the 2015 Committee on Appropriations is urging the National Institutes of Health to develop a five-year strategic plan for CP prevention, treatment and cure, and pushing the Centers for Disease Control to build on research methods. As Cynthia says, “Never before that we know of have the words ‘prevention, treatment and cure’ ever been used in conjunction with cerebral palsy in U.S. federal legislation. This is a tremendous step forward.”
Also on the frontier of the research landscape: The CP Genetic Research Network. Principal investigator Michael Kruer, a pediatric neurologist and CP genetics researcher, answered some questions:
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Dr. Michael Kruer |
In a nutshell, what’s known so far about the genetic component of CP?
Genes are the DNA “recipe” that contain the instructions needed to build a human being. Some control things like hair or eye color. Others are critical for brain development. Cerebral palsy genes fall in this latter category. If a gene is missing or if the genetic code is incorrect, (a “mutation”) this can alter the blueprint and affect that gene’s function, disrupting neurodevelopment. Mutations can arise in many ways. Most participants in our study do not have a family history of CP, but some do.
To be quite honest, there is more that we don’t know about CP genetics than we DO know.
• We do know that out of the 25,000 or so genes in the human body, mutations in just one gene can cause CP in many cases. Current estimates indicate that literally dozens of genes that cause CP are waiting to be discovered.
• Another thing we do know is that of the handful of CP genes known, several map to the same pathway. Our studies indicate that these genes control the way brain cells connect to and communicate with each other. In the laboratory we have begun testing compounds that can improve these connections with very promising results.
What are you still hoping to discover about the genetic component of CP?
The goal of the CP Genetic Research Network is to transform the state of the science in CP. Our efforts will allow us to discover new genes as the cause of CP in our participants. For any participant, if we discover the cause of their CP, we can share that information with them if they wish. Some genes are likely to map to the CP pathway we have already identified. Others will point us in exciting new directions.
Could this prevent cerebral palsy down the road in unborn infants?
We’re not yet at this point with other offers, but other research in CP is aimed at this.
How will pinpointing genetic causes of CP be of help to future generations of children?
Through these efforts we seek to develop completely new ways to treat CP, not by treating symptoms but by targeting the underlying neurobiological problem. We will be able to develop completely new medicines, targeted to treat what goes wrong in cells rather than symptoms. We will accomplish this by better understanding the biology of the disorder.
How could knowing the genetic causes of CP help kids who currently have the disorder?
For many families, there is a sense that there is SOMETHING that caused their child’s CP, even if no one has been able to able to identify what that is. Some might even think that the cause is known, but in retrospect, there might be more to the story. Our studies are hoping to bring closure to what for some has been a long journey, filled with many office visits and tests. So, we may be able to offer answers as to WHY. Some parents have told me such answers can help them shake off years of unfounded guilt.
I know you’re recruiting for your study. Can you share more about it?
We want to understand what causes CP, and we are targeting those with CP of unknown origin—no premature, no known stroke—with the belief that many of the participants, children and adults, will have a mutation in a single gene that lead to their CP. We will provide an individualized, state-of-the-art evaluation of their genetic code and compare their code with that of their healthy mother and father. On an individual level, for many participants this will allow us to determine the cause of their CP. On a larger level, we think that many people will have mutations in the same genes and that these genes will converge on common pathways that shed new light on brain processes that lead to cerebral palsy when something goes wrong.
In order to enroll, both parents and their child with cerebral palsy need to participate in order to get the most information possible. There is no age limit as long as all three participate. Participation is simple. We send a study kit directly to your home and a swab is brushed on the inside of both cheeks. The samples are then simply dropped in the mail. To get more information, those interested should contact our study coordinator Jessica at kruerlab@sanfordhealth.org. There is no cost to participate but enrollment is limited to the first 100 parent-child trios. Those who enroll by October 3 will receive a free gift card for their time.
Head on over to the World CP Day website and post an idea for something that could change the world for your child with cerebral palsy or others who have it—think a product, technology or service. I encourage you to nominated Reaching for the Stars as your charity/organization, because the organization whose supporters share the most ideas before October 31 2014 will win $10,000.
From my other blog:
What my child with cerebral palsy taught me: parents share
The shocking lack of cerebral palsy research
Why you shouldn’t pity my child with cerebral palsy
Infographic courtesy of World Cerebral Palsy Day.