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CANCELED: Bringing Cerebral Palsy (CP) Into the Genomics Era

Who Should Attend: 


As the most common childhood-onset motor disability, cerebral palsy (CP) affects 764,000 individuals in the United States alone and accounts for lifetime healthcare expenses of $1.4 million per person. In approximately 20% of cases (or 150,000 individuals), the cause is unknown, raising concern for a genetic disorder, including treatable conditions where a molecular diagnosis may positively alter the trajectory of a child’s development. Our research aims to (1) determine the genetic landscape of CP, including potentially treatable conditions (2) develop rules to predict which individuals with CP are likely to have a genetic disorder and (3) contribute to an emerging scientific understanding of the pathophysiology of CP that will impact a large patient population.

Dr. Siddharth Srivastava's Figure


Maya Chopra, Dustin L Gable, Jamie Love-Nichols, Alexa Tsao, Shira Rockowitz, Piotr Sliz, Elizabeth Barkoudah, Lucia Bastianelli, David Coulter, Emily Davidson, Claudio DeGusmao, David Fogelman, Kathleen Huth, Paige Marshall, Donna Nimec, Jessica Solomon Sanders, Benjamin J Shore, Brian Snyder, Scellig S D Stone, Ana Ubeda, Colyn Watkins, Charles Berde, Jeffrey Bolton, Catherine Brownstein, Michael Costigan, Darius Ebrahimi-Fakhari, Abbe Lai, Anne O'Donnell-Luria, Alex R Paciorkowski, Anna Pinto, John Pugh, Lance Rodan, Eugene Roe, Lindsay Swanson, Bo Zhang, Michael C Kruer, Mustafa Sahin, Annapurna Poduri, Siddharth Srivastava
Mendelian etiologies identified with whole exome sequencing in cerebral palsy
Ann Clin Transl Neurol. 2022 Feb;9(2):193-205. doi: 10.1002/acn3.51506. Epub 2022 Jan 24.
Siddharth Srivastava, Jamie A Love-Nichols, Kira A Dies, David H Ledbetter, Christa L Martin, Wendy K Chung, Helen V Firth, Thomas Frazier, Robin L Hansen, Lisa Prock, Han Brunner, Ny Hoang, Stephen W Scherer, Mustafa Sahin, David T Miller, NDD Exome Scoping Review Work Group
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
Genet Med. 2019 Nov;21(11):2413-2421. doi: 10.1038/s41436-019-0554-6. Epub 2019 Jun 11.
Siddharth Srivastava, Booil Jo, Bo Zhang, Thomas Frazier, Anne Snow Gallagher, Fleming Peck, April R Levin, Sangeeta Mondal, Zetan Li, Rajna Filip-Dhima, Gregory Geisel, Kira A Dies, Amelia Diplock, Charis Eng, Rabi Hanna, Mustafa Sahin, Antonio Hardan
A randomized controlled trial of Everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome
Hum Mol Genet. 2022 May 20;ddac111. doi: 10.1093/hmg/ddac111. Online ahead of print.


Tuesday, July 26, 2022 - 12:30pm


Conference Room: 
Billings Building – Rosedale Room and Zoom

More Information

Darlene White

Conditions & Recovery

Cerebral Palsy icon
Worldwide, over 24 million children and adults are living with CP.
Motor Recovery Icon
Write and walk again.
Pain and Sensory Recovery Icon
Pain free, touch and smell like before.