Genetic and Epigenetic Biomarkers for Personalized Rehabilitation

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While cerebral palsy (CP) is caused by a neurological injury, research suggests that genetic and epigenetic factors contribute to severity of CP symptoms and their progression. 

To understand these factors, we will collect blood samples to analyze the DNA of children with CP. DNA is the unique genetic material that carries the instructions for our bodies’ development and function. It is stored in every cell in our bodies as a long strand of coded sequence. A gene is a segment of DNA sequence responsible for a trait. For example, one gene might be responsible for eye color, while another gene is responsible for blood type. Your complete set of genes is called your genome. Genetic testing allows us to study the specific genes a person has. In this study, we will look at 3 genes that are associated with brain development, muscle formation, and tissue repair.

We will also use the collected blood samples to look at participants' epigenome. Our DNA sequence never changes, but our bodies can regulate our genes by turning them “on” or “off”. A brain cell and a muscle cell have the same DNA but they don’t function in the same way because they are using different genes. Understanding this complex process is called epigenetics. All of the factors that can regulate your DNA is called your epigenome. A person’s epigenome changes throughout their life from factors like aging, growth, lifestyle, environment, and disease. Epigenetic testing allows us to study which genes are “on” or “off”. Groups of similar genes are often affected together so we call these epigenetic patterns. For the epigenetic testing in this study, we will look at one type of epigenetic change, called DNA methylation, to see if participants' epigenetic patterns are related to known patterns associated with CP and if they change over time.

Collectively, these two types of tests will help us find correlations with musculoskeletal impairments and with responses to treatments in the parallel BAPACS studies: Smart Ankle-Foot Orthosis and Potential Muscle Growth Drug for Gait and Spinal Stimulation and Potential Muscle Growth Drug for Movement Training. This information can be used in the future to develop personalized rehabilitation strategies tailored to individuals to better treat CP. 

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This project is led by Andrea Domenighetti, PhD and Francesco Lanotte, PhD.

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This project is associated with the Translational Biomedicine Lab and Building Advanced Cerebral Palsy Assistive Care Solutions (BACPACS) Centers.