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UC San Diego & Rady Children’s Health Designated as NORD® Rare Disease Center of Excellence

Designation joins UC San Diego and Rady Children’s with a national network spanning more than 150 academic medical centers, research institutions, and children’s hospitals working together to advance rare disease care and research in Southern California and nationwide SAN DIEGO, Calif. — Sept. 21, 2026 — UC San Diego and Rady Children’s Health San Diego today announced that they have been designated together as a NORD® Rare Disease Center of Excellence by the National Organization for Rare Disorders (NORD®). The designation recognizes UC San Diego and Rady Children’s leadership in rare disease care and research and connects its experts with ...

Press Releasesepilepsygene therapyJoseph GleesonKim-McManusNeurogenomics

Personalized Gene Therapy Helps Teen with Rare Form of Severe Epilepsy Walk Independently

The two-year treatment targeting protein production by disease-causing mutations dramatically reduced seizures and sparked developmental gains, helping one teenager walk independently. SAN DIEGO, Calif. — July 21, 2026 – SCN2A‑related developmental epileptic encephalopathy (DEE) is a rare, severe form of childhood epilepsy and one of the most common causes of monogenic autism. The condition is caused by single mutations to the sodium voltage-gated channel alpha subunit (SCN2A) gene, which controls the flow of sodium ions into neurons. These mutations promote abnormal brain excitability, resulting in uncontrolled seizures along with developmental delays, autism, movement problems and gastrointestinal issues. Most of these ...

Media CoverageNICUpodcastrapid Whole Genome SequencingSpotlightStephen Kingsmore

Tomorrow’s Cure: Shortening the Diagnostic Journey

This episode of “Tomorrow’s Cure” explores the dramatic changes happening in pediatric care thanks to whole genome sequencing. Hear from Whitney Thompson, M.D., assistant professor of medical genetics and pediatrics at Mayo Clinic, Stephen Kingsmore, M.D. president and CEO of Rady Children’s Institute for Genomic Medicine, and Sean George, CEO of Inflection Medicine, as they discuss the life-changing feeling of identifying rare genetic diseases and giving patients a precise diagnosis.

Press ReleasesBeginNGSnewborn screeningrapid Whole Genome Sequencingrare diseaseSpotlight

King Faisal Specialist Hospital & Research Centre Joins BeginNGS® Consortium to Advance Newborn Screening by Genome Sequencing in the Region

BeginNGS Enables Early Detection of Hundreds of Treatable Genetic Disorders in Newborns Riyadh, Saudi Arabia —October 7, 2025– Rady Children’s Institute for Genomic Medicine (RCIGM) today announced an agreement with King Faisal Specialist Hospital & Research Centre (KFSHRC), a leading healthcare, research, and education institution recognized across Middle East and Internationally for providing world-class medical care and advancing healthcare standards, to collaborate on implementing RCIGM’s genome-based newborn screening platform, BeginNGS. As a not-for-profit healthcare system, KFSHRC joins the BeginNGS Consortium as a Bronze level member. Launched by RCIGM and its founding partners in 2022, BeginNGS is designed to prevent or ...