Finding Sources of Childhood Epilepsy in South America
When medical researchers in Sao Paulo, Brazil needed help for a project to develop diagnostics for children with epilepsy in very poor, remote areas of South America, they reached out to Renata Pellegrino, PhD, the technical director of the Center for Applied Genomics at the Children's Hospital of Philadelphia. They sought to discover epilepsy mutations in genes of children in an effort to ultimately lead to treatments.
Dr. Pellegrino, a native of Brazil, and her staff are well known for their passionate work detecting the genetic causes of some of the most prevalent childhood diseases, often leading to life-saving treatments. “I feel very emotional about these kids,” Dr. Pellegrino said. “They are the reason why I do my job.”
Dr. Pellegrino received blood samples that were often dry and very poor in quality from the researchers at the Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo. Her team had the tricky task to achieve genetic identification from these blood samples. “The challenge of this project was to work successfully with the blood specimens,” Dr. Pellegrino said. “To do a very good capture with very bad samples is very difficult.”
To help address these difficulties, Dr. Pellegrino asked Twist Bioscience to provide custom target enrichment panels rather than try to sequence a whole genome, Pellegrino said, as target enrichment procedures isolate specific genomic regions of interest before next-generation sequencing.
“The Twist library panels allowed us to focus on important, medically relevant genes instead of forcing us to work with a whole genome,” Pellegrino added. “The panel was very simple, with a very simple protocol. So cost was reasonable for the exome with very, very good (exome) candidates.”
To learn more about how the Center for Applied Genomics at the Children's Hospital of Philadelphia moved forward with this project, read the case study, “Genomics Research Center Discovers Sources of Childhood Epilepsy using Twist Custom Panels.”
Dr. Pellegrino will give a presentation related to this subject at the AGBT 2019 conference in Marco Island, Florida, March 1, 2019 at the Twist Gold Sponsored Lunch Workshop called, “Leading the Way in Target Enrichment: Exceptional Performance, Improved Efficiency and Rapid Customization of Targeted Sequencing.”
Her presentation is titled “High-Efficiency Neurological Panel Design Using Twist Bioscience Double-Stranded Custom Targeted Enrichment Probes and Capture Optimization for Aged Dry Blood Spot Samples.” For conference details and registration information, click here.
Dr. Pellegrino said she feels great satisfaction because her team is making a difference by helping sick children. “I wake up and go to work for long hours and I’m happy about it,” she said, “because I know the impact we’re having on people’s lives.”
Featured image: Blood spot test (Source: Adobe Stock)