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Published on June 14, 2022
Already well known for its groundbreaking effort to rapidly diagnose and treat newborn children with rare, often life-threatening diseases, Rady Children’s Institute for Genomic Medicine (RCIGM) announced it has launched a novel program to evaluate the scalability of new diagnostic and precision medicine that screens for approximately 400 genetic diseases…
Published on July 16, 2021
Rady Children’s Institute for Genomic Medicine announced this week that it will partner with Takeda to develop targeted therapeutics for rare genetic diseases. The San Diego based institute is part of Rady Children’s Hospital-San Diego and is well known for its ground-breaking research on rare genetic diseases. It also provides…
Published on October 5, 2020
Florida’s AdventHealth for Children and Rady Children’s Institute for Genomic Medicine (RCIGM) have announced a partnership that will bring rapid and ultra-rapid whole genome sequencing to help diagnose critically ill infants and children in AdventHealth’s intensive care unit with the aim of providing fast diagnoses of their conditions. The rapid…
Published on June 19, 2020
A pilot program funded by the state of California showed that precision medicine for critically ill babies enrolled in California’s Medicaid program reduced their suffering and yielded better health outcomes, while decreasing the cost of their healthcare, saving the Golden State $2.5 million. The pilot program, Project Baby Bear, was launched…
Published on January 21, 2020
Stephen Kingsmore, M.D., D.Sc., President and CEO of Rady Children’s Institute for Genomic Medicine. Rady Children’s Institute for Genomic Medicine (RCIGM) and Deloitte said today they are exploring plans to use unmanned air systems (UAS) such as drones to fly genomic samples from acutely ill babies…
Published on April 25, 2019
Researchers at Rady Children’s Institute for Genomic Medicine (RCIGM) have built an automated pipeline designed to deliver a potential diagnosis in record time for hospitalized children suspected of having rare genetic diseases. The pipeline required minimal user intervention, increased usability, and shortened the time to diagnosis, delivering a provisional finding in…
Published on September 27, 2018
Looking to spread the success it has achieved in fast genomic screening of severely ill newborns, Rady Children’s Hospital-San Diego is leveraging $2 million in funding from Medi-Call to launch Project Baby Bear, the first California State funded program to offer rapid whole genome sequencing (WGS) for critically-ill newborns. “We…
Published on May 17, 2017
The Rady Children’s Institute for Genomic Medicine (RCIGM) and Alexion Pharmaceuticals said they have launched a strategic partnership designed to accelerate the diagnosis of critically-ill newborns with rare genetic disorders. Under the partnership, Alexion will share, research and further refine its SmartPanel platform, designed to personalize and prioritize suspected rare-disease…
Published on November 22, 2023
Medulloblastoma patients whose tumors contain circular extrachromosomal DNA (ecDNA) are twice as likely to relapse and three times as likely to die within five years of diagnosis, according to new research. Medulloblastoma is an aggressive cancer most often seen in children. “Medulloblastoma arises in the cerebellum, which is a delicate…
Published on October 27, 2023
Fore Genomics has launched its FORESITE 360 whole genome sequencing (WGS) service, which provides a complete DNA map of newborns, infants, and children using an at-home collection kit. The company says FORESITE 360 reveals genetically linked and clinically manageable diseases a baby or child might have now or could develop…
Published on September 15, 2023
New research by the EveryLife Foundation for Rare Diseases, in one of the first studies of healthcare utilization and costs for patients with a rare disease, has found that early rare disease diagnosis could save as much as $500,000 per patient. The report, “The Cost of Delayed Diagnosis in Rare…
Published on August 30, 2023
A recent analysis of published studies reveals that while cannabis-based products, or cannabinoids, seem to help with nausea and vomiting, there is lack of cannabis benefits evidence to determine the dosing, safety, and efficacy of such products for managing these and other symptoms in children with cancer. The analysis is…
Published on August 7, 2023
Results from a randomized study led by Johns Hopkins University School of Medicine show that using the wrong size blood pressure cuff can significantly skew readings and lead to incorrect measurements. In the study, published in JAMA Internal Medicine, the researchers showed that using a cuff that is too small…
Published on June 5, 2023
A little over a decade ago, a paper was published in Science1 that made science fiction a reality. Emmanuel Charpentier, Jennifer Doudna, and colleagues reported that they had identified a means of harnessing an element of a bacterial immune system to carry out genome editing in a way that was…
Published on April 12, 2023
The beginning of this year marks the 40th anniversary of the passing of the Orphan Drug Act. While the field of rare diseases has seen much progress both in diagnostics and the development of new therapies since then, there are still significant challenges that need to be overcome to reach…