GENETIC CAUSES OF CEREBRAL PALSY STUDY
As many of you are aware, CP is a common neurodevelopmental disorder that affects motor development. CP affects an estimated 1:250 people in the US, and is the most common cause of physical disability in childhood. Fewer of you might know that CP is often the result of a mutation, or misspelling, in the body's genetic code, a finding our research group at PCH, working with colleagues from around the world, published last year. Fewer still might realize that the latest research shows that many neurodevelopmental disorders, from learning problems to epilepsy to autism, may represent collections of individually rare genetic conditions. Although each of these conditions might be rare in and of itself, collectively NDDs are quite common and likely affect someone you know.
Although a number of helpful treatments for CP exist, these treatments have been around for some time. Not only have new treatments been slow to come by, butexisting treatments focus on reducing symptoms and not the core problem. Although there is much work to be done, genetics is increasingly serving as a roadmap for CP, and genetic findings are starting to change how doctors treat CP and related disorders. Genetic testing results may allow providers to avoid complications through prevention, reach for the best treatments first rather than through trial-and-error, or even treat CP in exciting new ways.
At the current time, it is difficult to tell if someone has a genetic cause for their CP based on their symptoms alone. There is much to learn about CP genetics - many genes that cause CP have not even been discovered yet! To help answer these questions and many more, the Barrow Neurological Institute at Phoenix Children’s Hospital is partnering with the Cerebral Palsy Research Network and families like yours on the Genetic Causes of Cerebral Palsy study, funded by the National Institutes of Health. The CP Research Network is a national collaboration made up of 30 centers of excellence seeking to establish gold standards in CP care.
Joining the study is easy; all you have to do is provide a saliva sample as a painless way of collecting your DNA. Participation is limited to the first 500 families, and is by invitation-only, although all families receiving care at PCH are eligible.
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