Annual Report 2023-2024

Her work could help with that. The marker, known as collagen X biomarker, could let a physician know precisely if a patient is growing and when they have stopped. This data has the potential to inform decisions about bracing, which can improve patient outcomes. Genomics Institute expands reach internationally The Shriners Children’s Genomics Institute launched in 2019 with the vision to use what we learn about genetics to improve care and quality of life for children with conditions treated by our healthcare system. Researchers are taking genetic samples from patients who choose to participate to sequence thousands of genomes each year. The result is a large clinical database that is available for researchers and physicians to access for studies related to any conditions our physicians see. “In the over four years since we built the Institute, basically from the ground up, we've already made important discoveries that have been published and are moving towards helping our kids with disorders such as cerebral palsy and scoliosis,” said Marc Lalande, Ph.D., vice president of research.

Shriners Children’s is very fortunate to have technology to achieve this. With the NovaSeq sequencer that was installed last summer, researchers can sequence 120 human genomes in less than two days with the results available more quickly than in the past. This is achieved at only 25% of the previous cost per genome. The NovaSeq also has bioinformatics capabilities, which are key to interpreting the genetic data. And researchers are expanding their data pool to international locations. Data collection at Shriners Children's Mexico has begun, and international samples were collected at outreach clinics in Cypress, Puerto Rico, Guam and Saipan this past year. “Diversity is a key point with respect to genetics,” said Kamran Shazand, Ph.D., director of the Genomics Institute. “Each ethnic background has slight genetic differences. And as a result, even mutations that are associated with disorders can differ from one ethnic background to another. By getting the highest level of diversity in our research project, we are hoping to have access to an international level of genetic information. The goal is to find those different variants for a given disorder in different populations across the world.”

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