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
Company’s membership to support evolution of genome-informed newborn screening healthcare delivery system
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.
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.
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 ...
Growing evidence shows that genetic testing can inform schizophrenia management by identifying rare genetic variants that may influence treatment and outcomes. Dr. Aaron Besterman, a
While using genetics to inform schizophrenia management has become a promising new method, it also comes with several ethical challenges. Dr. Aaron Besterman, a Health
Becker’s Healthcare Podcast: RCHSD President and CEO Patricio A. Frias shares the exciting innovative research being conducted at Rady Children’s Institute for Genomic Medicine.
PEDIATRIC MELTDOWN PODCAST: Podcast host Dr. Lia Gaggino talks with Dr. Caleb Bupp, Dr. Andrea Scheurer and Dr. Joseph Fakhoury about Project Baby Deer.
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