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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 ...

Press ReleasesDNA SequencingEarly DiagnosisGenetic MutationsGenetic Risk FactorsGenetics

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 ...

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Championing Children’s Health

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.

Press ReleasesAmerican Journal of PsychiatryClinical PsychiatryGenetic TestinggenomicsMental Health

Study Finds Knowledge of Genetics and Genomic Medicine Crucial for Mental Health Providers to Deliver Informed, Personalized Care

San Diego—March 26, 2025– In a manuscript published today in the American Journal of Psychiatry titled Psychiatric Genetics in Clinical Practice: Essential Knowledge for Mental Health Professionals, authors provide updated guidelines on what mental health professionals should know about the latest advances in genetics and how genetics can inform clinical psychiatric practice. Key findings highlight the importance of understanding the genetic architecture of psychiatric disorders, the potential applications of genetic information in risk assessment, diagnosis, treatment selection, and patient education, as well as the ethical and social considerations surrounding the use of genetic data. The paper was developed by the ...