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Finding Answers for Undiagnosed Patients with Rare Genetic Diseases


Despite the ability of whole genome sequencing to diagnose patients with rare genetic disease, the technology still leaves many patients without a clear diagnosis. Rady Children’s Institute for Genomic Medicine, which has innovated the use of rapid whole genome sequencing in the neonatal and pediatric ICU, is now working to diagnosed patients left undiagnosed by […]

September 16, 2021

A childhood of daily seizures. A medicine created just for her son. Will it work?

San Diego Union-Tribune

San Diego nonprofit n-Lorem plans to treat patients with rare genetic diseases for free, and for life. It’s an approach some, like RCIGM CEO Stephen Kingsmore, say could revolutionize medicine — if it can be scaled.

September 16, 2021

Nicklaus Children’s Hospital ‘Project Baby Manatee’: Advanced Genomics Cuts Diagnostic Delays & Costs

Florida Trend

When a child is born with symptoms so rare that they confound doctors, or an older child develops an acute medical condition few health care professionals have treated before, it can cause needless suffering for the child and tremendous anxiety or depression for parents powerless to help.

September 13, 2021

Genome Giants: Stephen F. Kingsmore – President and CEO of Rady Children’s Institute for Genomic Medicine

Frontline Genomics

Frontline Genomics interviewed RCIGM founder, Stephen Kingsmore, as part of their Genome Giants series, which explores the lives and motivations of some of the most influential figures within the genomics field.

September 7, 2021

Rady Children’s and Takeda Partner to Develop Treatments for Rare Genetic Diseases

Clinical OMICS

“While we’ve made great progress in diagnosing rare genetic diseases for critically ill newborns and children, only an estimated 10% of childhood genetic diseases currently have effective treatments,” Stephen Kingsmore, president and CEO of the Rady Institute for Genomic Medicine, told Clinical Omics. “The collaboration with Takeda is our Institute’s first effort focused on ending the […]

July 16, 2021

Rapid Genetic Testing May Have Spared This Baby From Death

MedPage Today

For an infant with seizures, every passing hour risks more harm to the newborn’s brain. That’s why this story from Rady Children’s Hospital in San Diego is so inspiring, not just for parents and their children, but for doctors and geneticists.

June 16, 2021

Opinion: Genome sequencing can lead to life-changing care for infants. California should make it more available

San Diego Union-Tribune

Innovative medical technology is constantly being developed, and with it comes the possibility for incredible breakthroughs in modern medicine. California has never seen scientific advancements within closer reach than they are today. For critically ill infants hospitalized with unexplained rare diseases, the opportunity to benefit from a medical miracle has arrived.

April 14, 2021

Rapid Genome Sequencing Can Save Babies With Rare Diseases, If They Can Get It


Undiagnosed genetic diseases take a serious physical and emotional toll on families. Rapid genome sequencing can provide answers and guide treatment decisions, but so far, insurance companies have been reluctant to pay. That’s beginning to change.

March 31, 2021

AdventHealth diagnoses severely underweight baby with rare allergy using genomic testing

FOX 35 Orlando

A Central Florida family is thanking AdventHealth and genomic testing for a life-saving diagnosis that saved their baby boy. Six months ago, when Michael Ferrara-Urban was three-months-old, he was admitted to AdventHealth for Children (AHFC) for “failure to thrive.” Last April, AHFC partnered with Rady Children’s Institute for Genomic Medicine in San Diego to bring […]

February 19, 2021


Global Genes forges rare-disease support network partnership

Global Genes will work with Rady Children’s Institute for Genomic Medicine (RCIGM) to develop a support network designed to help patients and families dealing with gene-based rare diseases. The collaboration aims to help shorten the path to accurate diagnoses, and reduce the gap in service and support for such diseases.

October 22, 2020