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.

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

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