News Center

Press ReleasesBeginNGSGeneticsnewborn genomics sequencingSpotlight

BeginNGS® Consortium Announces Alexion, AstraZeneca Rare Disease as its First Platinum Member

Company’s membership to support evolution of genome-informed newborn screening healthcare delivery system

Media CoverageDNA SequencingGenetic DiagnosisSpotlightStephen Kingsmore

Accelerating Genome Analysis to Screen Newborn Babies in Hours Instead of Days

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.

Media CoverageAutism Spectrum DisorderClinical PsychiatryGenetic TestingPsychiatric GeneticsSpotlight

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.

Press ReleasesAutism Spectrum DisorderBehavioral HealthClinical PsychiatryGenetic DiagnosisGenetic Testing

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 ...