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Genetic Causes of Cerebral Palsy Explored

by Colleen Fleiss on Sep 15 2022 11:45 PM
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Genetic Causes of Cerebral Palsy Explored
$3.3 million from the Eunice Kennedy Shriver National Institute of Child Health & Human Development of the National Institutes of Health has been awarded to explore the genetic variants that cause cerebral palsy (CP).

What is Cerebral Palsy

Cerebral palsy is a developmental brain disorder that impacts early motor development, balance and posture. It affects 1 in 500 people and is the most common motor disability in childhood, according to the Centers for Disease Control and Prevention.
As has been found in other similar brain disorders, a growing body of evidence suggests that a large proportion of CP cases are caused by rare variants in DNA. Dr. Moreno De Luca’s study will analyze DNA sequence data from Geisinger’s MyCode® Community Health Initiative paired with electronic health data, as well as DNA sequence data from GeneDx (Sema4), a leader in genomic testing and analysis for rare disorders, to identify the individual genes and regions of the genome responsible for CP.

“We anticipate that this study will provide evidence to support the inclusion of genetic testing in routine clinical care for individuals with cerebral palsy,” Dr. Moreno De Luca said. “This project could also foster future research into molecular mechanisms of disease, helping to develop targeted therapies for specific genomic variants.”

Dr. Moreno De Luca’s team will also analyze MRI studies of a subgroup of participants, allowing the team to identify shared neuroimaging features related to specific genes, gene families and molecular pathways.

Source-Eurekalert


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