Rare Disease Report: Newborn Screening Awareness & Novel Diagnostic Tool
October 10, 202220m 46s
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Show Notes
In the wake of Newborn Screening Awareness Month, this episode dives into a novel diagnostic precision medicine guidance tool called BeginNGS. Catherine Nester, RN, and Dr. Stephen Kingsmore, discuss the pivotal role of newborn screening in diagnosing rare diseases.
As representatives from collaborating partners Inozyme Pharma and Rady Children's Institute that created this tool, they explain the impact that BeginNGS can have on the future of rare disease medicine.
As representatives from collaborating partners Inozyme Pharma and Rady Children's Institute that created this tool, they explain the impact that BeginNGS can have on the future of rare disease medicine.