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 […]
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 […]
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 […]
Two studies published in the American Journal of Human Genetics show the potential for genomic screening in newborns to address high rates of infant hospitalization and mortality in the United States and reported a 97 percent reduction in false positives based on a method derived from human evolution.
Rady Children’s Hospital-San Diego is pleased to announce that Praveen Raju, MD, PhD, will be appointed as Medical Director, Pediatric Neuro-Oncology Program, Rady Children’s Hospital-San Diego.
Rady Childrens Institute for Genomic Medicine (RCIGM) is proud to announce that Aaron D. Besterman, MD, received a Young Investigator Grant from the Brain & Behavior Research Foundation.
This study will help medical teams determine the pathogenicity of a variant in the STXBP1 gene – which can cause severe seizures, intellectual disability, and developmental delays — to swiftly end the diagnostic odyssey for patients and their families.
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