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

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.

AdventHealth diagnoses severely underweight baby with rare allergy using genomic testing

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 the quickest turnaround for genomic test results in the country, to Central Florida for the first time.

Rady Children’s Institute for Genomic Medicine Receives New York State Approval for Clinical Sequencing
The Clinical Genome Center at Rady Children's Institute for Genomic Medicine® is one of few labs nationwide approved to perform whole exome and whole genome sequencing on samples sent from all 50 states and the District of Colombia. Photo by Earnie Grafton.

Rady Children’s Institute for Genomic Medicine Receives New York State Approval for Clinical Sequencing

San Diego – February 18, 2021 – Rady Children’s Institute for Genomic Medicine (RCIGM) is now licensed by New York State to perform clinical molecular testing making the Institute one of the few laboratories nationwide approved to perform whole exome and whole genome sequencing (WGS) on samples sent from all 50 states and the District of Columbia.

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Parents, Doctors Agree: Genome Sequencing as a First-Tier Diagnostic Test Benefits Critically Ill Infants
Rapid Whole Genome Sequencing is making a difference in babies' and families' lives. Photo by Earnie Grafton.

Parents, Doctors Agree: Genome Sequencing as a First-Tier Diagnostic Test Benefits Critically Ill Infants

Findings of two new studies by Rady Children’s Institute for Genomic Medicine

SAN DIEGO – Nov. 5, 2020— A vast majority of doctors and parents of babies in intensive care, with diseases of unknown origin, believe genomic sequencing is beneficial in managing care, according to two new papers published by Rady Children’s Institute for Genomic Medicine. Read More

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.

Inside Our Child’s Battle With Mitochondrial Disease

“Despite a beautiful pregnancy and delivery with every prenatal screening and precaution taken, Evan was born with mitochondrial disease.” Lindzi Scharf shares a personal essay on Variety.com about her family’s diagnostic odyssey and how RCIGM offered a break-through diagnosis and, just as importantly, a personal touch.

Global Genes and Rady Children’s Institute for Genomic Medicine Partner to Develop Next-Generation Support Network for Families with Diagnosed Gene-Based Rare Diseases

ALISO VIEJO, Calif.; Oct. 14, 2020 – As gene-based diagnostics are shortening the path to an accurate diagnosis, the risk of disparities in service and support have increased. To reduce those disparities, Global Genes, a leading rare disease patient advocacy organization, is pleased to announce a new partnership with Rady Children’s Institute for Genomic Medicine (RCIGM) to develop a next-generation support network for families with gene-based diagnosed rare diseases. Read More

Genomenon and Rady Children’s Institute for Genomic Medicine Collaborate to Accelerate Diagnosis of Rare Genetic Disorders in Newborns

Mastermind Genomic Search Engine Now Part of RCIGM’s Analysis and Variant Interpretation Workflow

Ann Arbor, Michigan – October 6, 2020 The Rady Children’s Institute for Genomic Medicine (RCIGM) and Genomenon, Inc. today announced a strategic collaboration to accelerate the diagnosis of critically-ill newborns with rare genetic disorders. The collaboration combines the Institute’s genomic research expertise with Genomenon’s Mastermind Genomic Search Engine to advance precision medicine for infants in an intensive care setting. Read More

AdventHealth for Children, Rady Children’s Institute launch genomics partnership to help critically ill kids

ORLANDO, Fla., and SAN DIEGO, Oct. 5, 2020 AdventHealth for Children is partnering with Rady Children’s Institute for Genomic Medicine to bring rapid and ultra-rapid whole genome sequencing to Central Florida families for the first time. The testing will help critically ill babies and children in intensive care with unexplained medical conditions receive appropriate care. Read More