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Long-Read Sequencing Pinpoints Genetic Basis for Psychiatric Diagnosis in Pediatric Case

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.

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Advanced Genome Sequencing Enables Genetic Diagnosis for Complex Psychiatric Conditions

Findings highlight value of pursuing genetic testing, including advanced sequencing methods, for accurate diagnoses San Diego—April 9, 2025– In a manuscript published today in the American Journal of Psychiatry titled Long-Read Genome Sequencing in Clinical Psychiatry: RFX3 Haploinsufficiency in a Hospitalized Adolescent With Autism, Intellectual Disability, and Behavioral Decompensation, authors describe how they leveraged long-read genomic sequencing (LRS) to make a genetic diagnosis in a17-year-old male with autism spectrum disorder, intellectual disability, and acute behavioral decompensation that would not have been possible by standard methods. Through the use of LRS, a cutting-edge technology that reads extended stretches of DNA in ...

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Breakthrough Study Sheds New Light on Causes of Spina Bifida and Potential Treatments

New Research Published in Nature Offers Hope for Understanding and Preventing Common Birth Defect San Diego—April 1, 2025– Scientists at Rady Children’s Institute for Genomic Medicine, and the Department of Neurosciences and Pediatrics at the University of California, San Diego, have made a significant breakthrough in understanding the causes of spina bifida, a serious birth defect affecting thousands of newborns each year. The new study, published this week in Nature, reveals critical insights into how this condition develops and opens the door for potential future treatments. Spina bifida, or meningomyelocele, occurs when the spine and spinal cord do not form ...