PATIENT WORTHY: Catherine Nester spoke with Patient Worthy about the importance of newborn screening, the challenges of diagnostic delays, and how Inozyme is working to transform the treatment landscape for ENPP1 Deficiency and ABCC6 Deficiency, also known as Generalized Arterial Calcification of Infancy (GACI) types 1 and 2, respectively.
FIERCE PHARMA: In part two of this series, we turn our attention to rWGS and the pharmaceutical industry – specifically, the great potential of rWGS in drug development and patient access, and the important role pharma plays in advancing this promising technology.
EXPRESS HEALTHCARE MANAGEMENT: A recent study conducted by the EveryLife Foundation for Rare Diseases has shed light on the potential savings that can be achieved through early diagnosis of rare diseases. The study builds upon existing evidence from Project Baby Bear that supports the benefits of early screening and genetic sequencing for rare diseases.
INSIDE PRECISION MEDICINE: New research by the EveryLife Foundation for Rare Diseases has found that early rare disease diagnosis could save as much as $500,000 per patient.
FIERCE Healthcare: The rare disease journey can be long and difficult. rWGS could offer newborns a greater chance of successful diagnosis and intervention at birth.
Dr. Stephen Kingsmore explains how the BeginNGS consortium members help the project to continually evolve.
Key Largo’s Local10 News covers the impact of Project Baby Manatee.
AJMCtv: Stephen Kingsmore discusses the types of disparities seen in genetic testing as the BeginNGS phase 2 clinical trial is underway.
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.
Stephen Kingsmore, MD, DSc, president and CEO, at Rady Children’s Institute for Genomic Medicine, shares details of the BeginNGS newborn screening program and its future goals.
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