In early 2023, a year after my son was diagnosed with Prader-Willi syndrome (PWS), I began experimenting with newly emerging artificial intelligence (AI) tools to support our family’s care journey. They showed promise but offered little practical help at the time. That changed dramatically last year, when large language models (LLMs) and other AI services […]
Rady Children’s Institute for Genomic Medicine in San Diego proved a game-changer in putting together the pieces. “Evan’s specialists were all based in Los Angeles, but in terms of somebody who was able to oversee such a complex situation, it was Rady’s that led the charge on that,” Scharf says. “They worked in collaboration with the Undiagnosed […]
Researchers at Rady Children’s Institute for Genomic Medicine (RCIGM) in San Diego have successfully applied long-read genome sequencing to reveal the genetic underpinnings of complex psychiatric conditions in a 17-year-old patient, showcasing the potential of this advanced technology for clinical diagnosis and future gene therapies.
Dr. Stephen F. Kingsmore, President and CEO of Rady Children’s Institute for Genomic Medicine, discusses how rapid whole genome sequencing helped diagnose a rare genetic condition that caused baby Dakota’s kidneys to fail—leading to lifesaving treatment and a path forward for her family.
Growing evidence shows that genetic testing can inform schizophrenia management by identifying rare genetic variants that may influence treatment and outcomes. Dr. Aaron Besterman, a Health Sciences Associate Clinical Professor at USCD, explores the newest technological advancements in schizophrenia care.
While using genetics to inform schizophrenia management has become a promising new method, it also comes with several ethical challenges. Dr. Aaron Besterman, a Health Sciences Associate Clinical Professor at UC San Diego, explains how limited research and potential risks can complicate how we leverage these genetic technologies.
Routine newborn screenings showed the seemingly healthy little boy she and her husband, Daniel, had named Fitz had severe combined immunodeficiency (SCID), a rare genetic disorder that results in a nonfunctioning immune system.
In a paper published this week in the American Journal of Human Genetics, collaborators led by the Rady Children’s Institute for Genomic Medicine (RCIGM) formally spelled out plans to improve detection and treatment of rare hereditary pediatric diseases through rapid whole-genome sequencing (rWGS).
When Christina Kettler gave birth to her first child, Fitz, in the summer of 2019, he seemed happy and healthy.
ENDPOINTS: The story of a 14-year-old with an extremely rare genetic disease who was treated at Rady Children’s Hospital – San Diego with a drug specially developed for him by the N-Lorem Foundation.
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