Geisinger to study genetic causes of cerebral palsy

DANVILLE, Pa. – Andres Moreno De Luca, M.D., M.B.A, assistant professor and neuroradiologist at Geisinger’s Autism & Developmental Medicine Institute, has been awarded $3.3 million from the Eunice Kennedy Shriver National Institute of Child Health & Human Development of the National Institutes of Health to study genetic variants that cause cerebral palsy (CP).

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. Birth asphyxia—a lack of oxygen to the brain before, during, or just after birth—was considered the most frequent cause of CP for many years, but multiple studies have shown that it accounts for less than 10 percent of all cases.

A growing body of evidence suggests that a large proportion of CP cases are caused by rare variants in DNA, as has been found in other similar brain disorders. 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.

About Geisinger
Geisinger is among the nation’s leading providers of value-based care, serving 1.2 million people in urban and rural communities across Pennsylvania. Founded in 1915 by philanthropist Abigail Geisinger, the non-profit system generates $10 billion in annual revenues across 134 care sites - including 10 hospital campuses, and Geisinger Health Plan, with 600,000 members in commercial and government plans. The Geisinger College of Health Sciences educates more than 5,000 medical professionals annually and conducts more than 1,400 clinical research studies. With 26,000 employees, including 1,600 employed physicians, Geisinger is among Pennsylvania’s largest employers with an estimated economic impact of $14 billion to the state’s economy. On March 31, 2024, Geisinger became the first member of Risant Health, a new nonprofit charitable organization created to expand and accelerate value-based care across the country.  Learn more at geisinger.org or connect with us on Facebook, Instagram, LinkedIn and X.