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When Christina Kettler gave birth to her first child, Fitz, in the summer of 2019, he seemed happy and healthy.
ENDPOINTS: The story of a 14-year-old with an extremely rare genetic disease who was treated at Rady Children’s Hospital – San Diego with a drug specially developed for him by the N-Lorem Foundation.
Healthy Kids Magazine: At 13 months, seemingly out of nowhere, Hudson started having trouble breathing.
Washington Post: Early research study results show that genome sequencing is catching conditions not found through traditional newborn screening.
NATURE: Streamlined workflows for DNA and RNA sequencing are helping clinicians to deliver prompt, targeted care to people in days — or even hours.
CHILDREN’S HOSPITAL ASSOCIATION: Children’s hospitals and health systems are leading the research and development of pediatric-specific treatments and technologies to ensure happier, healthier futures for kids.
CBS NEWS: Just 48 hours after her birth in a Seattle-area hospital in 2021, Layla Babayev was undergoing surgery for a bowel obstruction.
PRECISION MEDICINE ONLINE: Newborn genome sequencing projects focusing on seemingly healthy babies shortly after birth are forging ahead around the world, but their approaches differ according to each country’s population structure, disease prevalence, healthcare system, treatment availability, and more.
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.
© 2024 Rady Children's Institute for Genomic Medicine.