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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.
Targeted genome sequencing was found to deliver routine results more quickly and at a lower cost; lack of standardization in analytic techniques remains a barrier to diagnosis and medical care for genetic disorders in the first year of life.
During its first year, the BeginNGS newborn whole genome sequencing program welcomed 22 founding members, completed its first phase, and launched next-phase screening for 31 additional genetic disorders.
Rapid, Diagnostic Whole Genome Sequencing May Have Prevented Deaths in Some Cases
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