In this special episode from the AACPDM annual meeting, Belinda Deramore Denver talks about vision in CP and her current work to better understand how children use their vision to help intervene early and with the right interventions.
Cohort-based whole exome and whole genome sequencing and copy number variant (CNV) studies have identified genetic etiologies for a sizable proportion of patients with cerebral palsy (CP). These findings indicate that genetic mutations collectively comprise an important cause of CP.
An international study recently published in the journal Nature Genetics has provided the first firm evidence that for a substantial number of people, their cerebral palsy (CP) may be caused by a genetic mutation, or mis-spelling in the body’s DNA blueprint.
"In addition to commonly associated environmental factors, genomic factors may cause cerebral palsy. We performed whole-exome sequencing of 250 parent–offspring trios, and observed enrichment of damaging de novo mutations in cerebral palsy cases."
To give you an idea about genetic variation between each of us, there are about three million differences in our genetic code. They go to influence the color of our hair and the color of our eyes, the way we walk.
