Earlier this summer, Florida and Arizona started offering Medicaid coverage for rapid whole genome sequencing. Find out more about the latest policies.
AJMCtv: Stephen Kingsmore discusses the types of disparities seen in genetic testing as the BeginNGS phase 2 clinical trial is underway.
Rady Children’s Institute for Genomic Medicine is excited to announce that the current version of our rWGS/urWGS test is now validated to include identification of repeat expansions in the PHOX2B gene, associated with Congenital Central Hypoventilation Syndrome (CCHS), and in the DMPK gene, associated with Myotonic Dystrophy Type 1 (DM1).
Inozyme is seeking patients with disease-causing variants in the ENPP1 and/or ABCC6 genes for possible participation in a clinical trial.
RARE DISEASE REPORT: Catherine Nester, RN, and Dr. Stephen Kingsmore, discuss the pivotal role of newborn screening in diagnosing rare diseases along with the impact that BeginNGS can have on the future of rare disease medicine.
GLOBAL GENES PODCAST: Global Genes spoke to spoke to Axel Bolte, co-founder and CEO of Inozyme, about ENPP1 deficiency, its lead experimental therapy to treat the condition, and its work with Rady Children’s Institute for Genomic Medicine to improve the diagnosis of newborns.
PRECISION MEDICINE PODCAST: Dr. Kingsmore joins the Precision Medicine Podcast to discuss the extraordinary role whole-genome sequencing is playing in prolonging and improving the life of critically ill newborns.
RARECAST PODCAST: RARECAST spoke to Matthew Bainbridge, principal investigator and associate director of clinical genomics at Rady Children’s Institute for Genomic Medicine, about the institute’s collaboration with Pacific Biosciences, how long-read sequencing differs from traditional whole genome sequencing, and why this is helping to find answers for undiagnosed patients with rare genetic diseases.
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